2019

RNA toxicity in non-coding repeat expansion disorders.
Swinnen B, Robberecht W, Van Den Bosch L.
EMBO J. 2019 Nov 13:e101112. doi: 10.15252/embj.2018101112. [Epub ahead of print] Review.

Bioactive Aliphatic Polycarbonates Carrying Guanidinium Functions: An Innovative Approach for Myotonic Dystrophy Type 1 Therapy.
Baroni A, Neaga I, Delbosc N, Wells M, Verdy L, Ansseau E, Vanden Eynde JJ, Belayew A, Bodoki E, Oprean R, Hambye S, Blankert B.
ACS Omega. 2019 Oct 21;4(19):18126-18135. doi: 10.1021/acsomega.9b02034. eCollection 2019 Nov 5.

MicroRNA-Based Therapeutic Perspectives in Myotonic Dystrophy.
López Castel A, Overby SJ, Artero R.
Int J Mol Sci. 2019 Nov 9;20(22). pii: E5600. doi: 10.3390/ijms20225600. Review.

Hormonal and metabolic gender differences in a cohort of myotonic dystrophy type 1 subjects: a retrospective, case-control study.
Spaziani M, Semeraro A, Bucci E, Rossi F, Garibaldi M, Papassifachis MA, Pozza C, Anzuini A, Lenzi A, Antonini G, Radicioni AF.
J Endocrinol Invest. 2019 Nov 30. doi: 10.1007/s40618-019-01156-w. [Epub ahead of print]

Myotonic dystrophy type 1 alters muscle twitch properties, spinal reflexes, and perturbation-induced trans-cortical reflexes.
Shields RK, Lee J, Buelow A, Petrie M, Dudley-Javoroski S, Cross S, Gutmann L, Nopoulos PC.
Muscle Nerve. 2019 Nov 26. doi: 10.1002/mus.26767. [Epub ahead of print]

Recovery in the Myogenic Program of Congenital Myotonic Dystrophy Myoblasts after Excision of the Expanded (CTG)n Repeat.
André LM, van Cruchten RTP, Willemse M, Bezstarosti K, Demmers JAA, van Agtmaal EL, Wansink DG, Wieringa B.
Int J Mol Sci. 2019 Nov 13;20(22). pii: E5685. doi: 10.3390/ijms20225685.

Targeting myotonic dystrophy by preimplantation genetic diagnosis-karyomapping.
Targeting myotonic dystrophy by preimplantation genetic diagnosis-karyomapping.
Taiwan J Obstet Gynecol. 2019 Nov;58(6):891-894. doi: 10.1016/j.tjog.2019.04.002.

Increased Muscleblind levels by chloroquine treatment improve myotonic dystrophy type 1 phenotypes in in vitro and in vivo models.
Bargiela A, Sabater-Arcis M, Espinosa-Espinosa J, Zulaica M, Lopez de Munain A, Artero R.
Proc Natl Acad Sci U S A. 2019 Nov 21. pii: 201820297. doi: 10.1073/pnas.1820297116. [Epub ahead of print]

Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1.
Johnson NE, Aldana EZ, Angeard N, Ashizawa T, Berggren KN, Marini-Bettolo C, Duong T, Ekström AB, Sansone V, Tian C, Hellerstein L, Campbell C.
Neurol Clin Pract. 2019 Oct;9(5):443-454. doi: 10.1212/CPJ.0000000000000646. Review.

Diabetes, Metformin, and Cancer Risk in Myotonic Dystrophy Type I.
Alsaggaf R, Pfeiffer RM, Wang Y, St George DMM, Zhan M, Wagner KR, Amr S, Greene MH, Gadalla SM.
Int J Cancer. 2019 Nov 20. doi: 10.1002/ijc.32801. [Epub ahead of print]

Overground exoskeletons may boost neuroplasticity in myotonic dystrophy type 1 rehabilitation: A case report.
Portaro S, Naro A, Leo A, Cimino V, Balletta T, Buda A, Accorinti M, Calabrò RS.
Medicine (Baltimore). 2019 Nov;98(46):e17582. doi: 10.1097/MD.0000000000017582.

Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region.
Pagola-Lorz I, Vicente E, Ibáñez B, Torné L, Elizalde-Beiras I, Garcia-Solaesa V, García F, Delfrade J, Jericó I.
Orphanet J Rare Dis. 2019 Dec 2;14(1):276. doi: 10.1186/s13023-019-1227-x. Review.

Strength training and aerobic exercise training for muscle disease.
Voet NB, van der Kooi EL, van Engelen BG, Geurts AC.
Cochrane Database Syst Rev. 2019 Dec 6;12:CD003907. doi: 10.1002/14651858.CD003907.pub5. Review.

Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study.
Wang Y, Best A, Fernández-Torrón R, Alsaggaf R, Garcia-Puga M, Dagnall CL, Hicks B, Thompson M, Matheu Fernandez A, Zulaica Ijurco M, Greene MH, Lopez de Munain A, Gadalla SM.
Ann Clin Transl Neurol. 2019 Dec 5. doi: 10.1002/acn3.50954. [Epub ahead of print]

Regional brain atrophy in gray and white matter is associated with cognitive impairment in Myotonic Dystrophy type 1.
Labayru G, Diez I, Sepulcre J, Fernández E, Zulaica M, Cortés JM, López de Munain A, Sistiaga A.
Neuroimage Clin. 2019 Nov 6;24:102078. doi: 10.1016/j.nicl.2019.102078. [Epub ahead of print]

TNNT2 Missplicing in Skeletal Muscle as a Cardiac Biomarker in Myotonic Dystrophy Type 1 but Not in Myotonic Dystrophy Type 2.
Bosè F, Renna LV, Fossati B, Arpa G, Labate V, Milani V, Botta A, Micaglio E, Meola G, Cardani R.
Front Neurol. 2019 Sep 27;10:992. doi: 10.3389/fneur.2019.00992. eCollection 2019.

A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.
Ballester-Lopez A, Koehorst E, Almendrote M, Martínez-Piñeiro A, Lucente G, Linares-Pardo I, Núñez-Manchón J, Guanyabens N, Cano A, Lucia A, Overend G, Cumming SA, Monckton DG, Casadevall T, Isern I, Sánchez-Ojanguren J, Planas A, Rodríguez-Palmero A, Monlleó-Neila L, Pintos-Morell G, Ramos-Fransi A, Coll-Cantí J, Nogales-Gadea G.
Hum Mutat. 2019 Oct 14. doi: 10.1002/humu.23932. [Epub ahead of print]

Cell-type-specific dysregulation of RNA alternative splicing in short tandem repeat mouse knockin models of myotonic dystrophy.
Nutter CA, Bubenik JL, Oliveira R, Ivankovic F, Sznajder ŁJ, Kidd BM, Pinto BS, Otero BA, Carter HA, Vitriol EA, Wang ET, Swanson MS.
Genes Dev. 2019 Oct 17. doi: 10.1101/gad.328963.119. [Epub ahead of print]

Syndromes associated with multiple pilomatricomas: When should clinicians be concerned?
Ciriacks K, Knabel D, Waite MB.
Pediatr Dermatol. 2019 Oct 16. doi: 10.1111/pde.13947. [Epub ahead of print]

Caregiver Burden and Related Factors Among Caregivers of Patients with Myotonic Dystrophy Type 1.
Kurauchi G, Endo M, Odaira K, Ono R, Koseki A, Goto M, Sato Y, Kon S, Watanabe N, Sugawara N, Kimura E, Takada H.
J Neuromuscul Dis. 2019 Oct 17. doi: 10.3233/JND-190386. [Epub ahead of print]

Texture analysis of sonographic muscle images can distinguish myopathic conditions.
Nodera H, Sogawa K, Takamatsu N, Hashiguchi S, Saito M, Mori A, Osaki Y, Izumi Y, Kaji R.
J Med Invest. 2019;66(3.4):237-247. doi: 10.2152/jmi.66.237.

A role for cannabinoids in the treatment of myotonia? Report of compassionate use in a small cohort of patients.
Montagnese F, Stahl K, Wenninger S, Schoser B.
J Neurol. 2019 Oct 26. doi: 10.1007/s00415-019-09593-6. [Epub ahead of print]

Intrinsic Myogenic Potential of Skeletal Muscle-Derived Pericytes from Patients with Myotonic Dystrophy Type 1.
Ausems CRM, Raaijmakers RHL, van den Broek WJAA, Willemse M, van Engelen BGM, Wansink DG, van Bokhoven H.
Mol Ther Methods Clin Dev. 2019 Sep 12;15:120-132. doi: 10.1016/j.omtm.2019.09.002. eCollection 2019 Dec 13.

Predicting daytime sleepiness and fatigue: a 9-year prospective study in myotonic dystrophy type 1.
Laberge L, Gallais B, Auclair J, Dauvilliers Y, Mathieu J, Gagnon C.
J Neurol. 2019 Oct 31. doi: 10.1007/s00415-019-09592-7. [Epub ahead of print]

Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries.
Higgs C, Hilbert JE, Wood L, Martens WB, Marini-Bettolo C, Nikolenko N, Alsaggaf R, Lochmüller H, Moxley RT, Greene MH, Wang Y, Gadalla SM.
Front Neurol. 2019 Oct 11;10:1071. doi: 10.3389/fneur.2019.01071. eCollection 2019.

The potential of engineered eukaryotic RNA-binding proteins as molecular tools and therapeutics.
Shotwell CR, Cleary JD, Berglund JA.
Wiley Interdiscip Rev RNA. 2019 Nov 3:e1573. doi: 10.1002/wrna.1573. [Epub ahead of print] Review.

Daily activity performance in congenital and childhood forms of myotonic dystrophy type 1: a population-based study.
Eriksson BM, Ekström AB, Peny-Dahlstrand M.
Dev Med Child Neurol. 2019 Nov 8. doi: 10.1111/dmcn.14395. [Epub ahead of print]

Paving the way for a better understanding of the pathophysiology of gait impairment in myotonic dystrophy: a pilot study focusing on muscle networks.
Naro A, Portaro S, Milardi D, Billeri L, Leo A, Militi D, Bramanti P, Calabrò RS.
J Neuroeng Rehabil. 2019 Sep 18;16(1):116. doi: 10.1186/s12984-019-0590-0.

High incidence of falls in patients with myotonic dystrophy type 1 and 2: A prospective study.
Berends J, Tieleman AA, Horlings CGC, Smulders FHP, Voermans NC, van Engelen BGM, Raaphorst J.
Neuromuscul Disord. 2019 Aug 28. pii: S0960-8966(19)31103-4. doi: 10.1016/j.nmd.2019.08.012. [Epub ahead of print]

A CTG repeat-selective chemical screen identifies microtubule inhibitors as selective modulators of toxic CUG RNA levels.
Reddy K, Jenquin JR, McConnell OL, Cleary JD, Richardson JI, Pinto BS, Haerle MC, Delgado E, Planco L, Nakamori M, Wang ET, Berglund JA.
Proc Natl Acad Sci U S A. 2019 Sep 30. pii: 201901893. doi: 10.1073/pnas.1901893116. [Epub ahead of print]

Structure of an RNA helix with pyrimidine mismatches and cross-strand stacking.
Montemayor EJ, Virta JM, Hagler LD, Zimmerman SC, Butcher SE.
Acta Crystallogr F Struct Biol Commun. 2019 Oct 1;75(Pt 10):652-656. doi: 10.1107/S2053230X19012172. Epub 2019 Sep 24.

Consensus-based care recommendations for adults with myotonic dystrophy type 2.
Schoser B, Montagnese F, Bassez G, Fossati B, Gamez J, Heatwole C, Hilbert J, Kornblum C, Kostera-Pruszczyk A, Krahe R, Lusakowska A, Meola G, Moxley R 3rd, Thornton C, Udd B, Formaker P; Myotonic Dystrophy Foundation.
Neurol Clin Pract. 2019 Aug;9(4):343-353. doi: 10.1212/CPJ.0000000000000645. Review.

Serum Cardiac-Specific Biomarkers and Atrial Fibrillation in Myotonic Dystrophy Type I.
Russo V, Rago A, Atripaldi L, Leonardi S, Papa AA, Politano L, Golino P, Potpara TS, Nigro G.
J Cardiovasc Electrophysiol. 2019 Oct 3. doi: 10.1111/jce.14211. [Epub ahead of print]

FISH Protocol for Myotonic Dystrophy Type 1 Cells.
Klein AF, Arandel L, Marie J, Furling D.
Methods Mol Biol. 2020;2056:203-215. doi: 10.1007/978-1-4939-9784-8_13.

In Vitro Synthesis and RNA Structure Probing of CUG Triplet Repeat RNA.
van Cruchten RTP, Wansink DG.
Methods Mol Biol. 2020;2056:187-202. doi: 10.1007/978-1-4939-9784-8_12.

Experimental System to Study Instability of (CGG)_n Repeats in Cultured Mammalian Cells.
Kononenko AV, Ebersole T, Mirkin SM.
Methods Mol Biol. 2020;2056:137-150. doi: 10.1007/978-1-4939-9784-8_9.

Analysis of Trinucleotide Repeat Stability by Integration at a Chromosomal Ectopic Site.
Gadgil RY, Rider SD Jr, Lewis T, Barthelemy J, Leffak M.
Methods Mol Biol. 2020;2056:121-136. doi: 10.1007/978-1-4939-9784-8_8.

Tracking Expansions of Stable and Threshold Length Trinucleotide Repeat Tracts In Vivo and In Vitro Using Saccharomyces cerevisiae.
Williams GM, Petrides AK, Balakrishnan L, Surtees JA.
Methods Mol Biol. 2020;2056:25-68. doi: 10.1007/978-1-4939-9784-8_3.

Fast Assays to Detect Interruptions in CTG.CAG Repeat Expansions.
Tomé S, Gourdon G.
Methods Mol Biol. 2020;2056:11-23. doi: 10.1007/978-1-4939-9784-8_2.

Comparison of Usefulness of Cardiac Resynchronization Therapy in Patients With Type 1 Myotonic Dystrophy With Versus Without Left Bundle Branch Block.
Nikhanj A, Sivakumaran S, Yogasundaram H, Becher H, Kimber S, Siddiqi ZA, Oudit GY.
Am J Cardiol. 2019 Sep 9. pii: S0002-9149(19)31008-2. doi: 10.1016/j.amjcard.2019.08.039. [Epub ahead of print]

Comparison of Usefulness of Cardiac Resynchronization Therapy in Patients With Type 1 Myotonic Dystrophy With Versus Without Left Bundle Branch Block.
Nikhanj A, Sivakumaran S, Yogasundaram H, Becher H, Kimber S, Siddiqi ZA, Oudit GY.
Am J Cardiol. 2019 Sep 9. pii: S0002-9149(19)31008-2. doi: 10.1016/j.amjcard.2019.08.039. [Epub ahead of print]

Age-related cognitive decline in myotonic dystrophy type 1: An 11-year longitudinal follow-up study.
Labayru G, Aliri J, Zulaica M, López de Munain A, Sistiaga A.
J Neuropsychol. 2019 Aug 13. doi: 10.1111/jnp.12192. [Epub ahead of print]

Benign tumors in myotonic dystrophy type I target disease-related cancer sites.
Alsaggaf R, St George DMM, Zhan M, Pfeiffer RM, Wang Y, Anderson LA, Liu Z, Koshiol J, Bauer AJ, Wagner KR, Greene MH, Amr S, Gadalla SM.
Ann Clin Transl Neurol. 2019 Aug;6(8):1510-1518. doi: 10.1002/acn3.50856. Epub 2019 Jul 26

Analysis of the functional capacity outcome measures for myotonic dystrophy.
Jimenez-Moreno AC, Nikolenko N, Kierkegaard M, Blain AP, Newman J, Massey C, Moat D, Sodhi J, Atalaia A, Gorman GS, Turner C, Lochmüller H.
Ann Clin Transl Neurol. 2019 Aug;6(8):1487-1497. doi: 10.1002/acn3.50845. Epub 2019 Jul 22.

Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort.
Cumming SA, Jimenez-Moreno C, Okkersen K, Wenninger S, Daidj F, Hogarth F, Littleford R, Gorman G, Bassez G, Schoser B, Lochmüller H, van Engelen BGM, Monckton DG; OPTIMISTIC Consortium.
Neurology.2019 Aug 8. pii: 10.1212/WNL.0000000000008056. doi: 10.1212/WNL.0000000000008056. [Epub ahead of print]

Deprivation of Muscleblind-Like Proteins Causes Deficits in Cortical Neuron Distribution and Morphological Changes in Dendritic Spines and Postsynaptic Densities.
Lee KY, Chang HC, Seah C, Lee LJ.
Front Neuroanat. 2019 Jul 30;13:75. doi: 10.3389/fnana.2019.00075. eCollection 2019

Prevalence of left ventricular systolic dysfunction in myotonic dystrophy type 1: a systematic review.
Russo V, Sperlongano S, Gallinoro E, Rago A, Papa AA, Golino P, Politano L, Nazarian S, Nigro G.
J Card Fail. 2019 Aug 12. pii: S1071-9164(19)30204-0. doi: 10.1016/j.cardfail.2019.07.548. [Epub ahead of print] Review.

Training program-induced skeletal muscle adaptations in two men with myotonic dystrophy type 1.
Roussel MP, Morin M, Girardin M, Fortin AM, Leone M, Mathieu J, Gagnon C, Duchesne E.
BMC Res Notes. 2019 Aug 20;12(1):526. doi: 10.1186/s13104-019-4554-z.

Global Increase in Circular RNA Levels in Myotonic Dystrophy.
Czubak K, Taylor K, Piasecka A, Sobczak K, Kozlowska K, Philips A, Sedehizadeh S, Brook JD, Wojciechowska M, Kozlowski P.
Front Genet. 2019 Jul 18;10:649. doi: 10.3389/fgene.2019.00649. eCollection 2019.

Mitigating RNA Toxicity in Myotonic Dystrophy using Small Molecules.
Reddy K, Jenquin JR, Cleary JD, Berglund JA.
Int J Mol Sci. 2019 Aug 17;20(16). pii: E4017. doi: 10.3390/ijms20164017. Review.

Assessment of small sensory fiber function in myotonic dystrophy type 1.
Boland-Freitas R, Ng K.
Muscle Nerve. 2019 Aug 23. doi: 10.1002/mus.26673. [Epub ahead of print]

Transplantation studies reveal internuclear transfer of toxic RNA in engrafted muscles of myotonic dystrophy 1 mice.
Mondragon-Gonzalez R, Azzag K, Selvaraj S, Yamamoto A, Perlingeiro RCR.
EBioMedicine. 2019 Aug 21. pii: S2352-3964(19)30553-5. doi: 10.1016/j.ebiom.2019.08.031. [Epub ahead of print]

Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations.
Voermans NC, van der Bilt RC, IJspeert J, Hogrel JY, Jeanpierre M, Behin A, Laforet P, Stojkovic T, van Engelen BG, Padberg GW, Sacconi S, Lemmers RJLF, van der Maarel SM, Eymard B, Bassez G.
J Neurol. 2019 Aug 31. doi: 10.1007/s00415-019-09494-8. [Epub ahead of print]

A New View of the T-Loop Junction: Implications for Self-Primed Telomere Extension, Expansion of Disease-Related Nucleotide Repeat Blocks, and Telomere Evolution.
Tomaska L, Nosek J, Kar A, Willcox S, Griffith JD.
Front Genet. 2019 Aug 14;10:792. doi: 10.3389/fgene.2019.00792. eCollection 2019.

Peptide-conjugated oligonucleotides evoke long-lasting myotonic dystrophy correction in patient-derived cells and mice.
Klein AF, Varela MA, Arandel L, Holland A, Naouar N, Arzumanov A, Seoane D, Revillod L, Bassez G, Ferry A, Jauvin D, Gourdon G, Puymirat J, Gait MJ, Furling D, Wood MJA.
J Clin Invest. 2019 Sep 3. pii: 128205. doi: 10.1172/JCI128205. [Epub ahead of print]

Combination Treatment of Erythromycin and Furamidine Provides Additive and Synergistic Rescue of Mis-Splicing in Myotonic Dystrophy Type 1 Models.
Jenquin JR, Yang H, Huigens RW 3rd, Nakamori M, Berglund JA.
ACS Pharmacol Transl Sci. 2019 Aug 9;2(4):247-263. doi: 10.1021/acsptsci.9b00020. Epub 2019 Jul 17.

DMPK is a New Candidate Mediator of Tumor Suppressor p53-Dependent Cell Death.
Itoh K, Ebata T, Hirata H, Torii T, Sugimoto W, Onodera K, Nakajima W, Uehara I, Okuzaki D, Yamauchi S, Budirahardja Y, Nishikata T, Tanaka N, Kawauchi K.
Molecules. 2019 Sep 1;24(17). pii: E3175. doi: 10.3390/molecules24173175.

Clinical and Genetic Characteristics of Childhood-onset Myotonic Dystrophy.
Stokes M, Varughese N, Iannaccone S, Castro D.
Muscle Nerve. 2019 Sep 14. doi: 10.1002/mus.26716. [Epub ahead of print]

Endurance exercise leads to beneficial molecular and physiological effects in a mouse model of myotonic dystrophy type 1.
Sharp L, Cox DC, Cooper TA.
Muscle Nerve. 2019 Sep 11. doi: 10.1002/mus.26709. [Epub ahead of print]

Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test.
Leferink M, Wong DPW, Cai S, Yeo M, Ho J, Lian M, Kamsteeg EJ, Chong SS, Haer-Wigman L, Guan M.
Sci Rep. 2019 Jun 4;9(1):8280. doi: 10.1038/s41598-019-44588-3.

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care.
De Antonio M, Dogan C, Daidj F, Eymard B, Puymirat J, Mathieu J, Gagnon C, Katsahian S; Filnemus Myotonic Dystrophy Study Group, Hamroun D, Bassez G.
Orphanet J Rare Dis. 2019 Jun 3;14(1):122. doi: 10.1186/s13023-019-1088-3.

Summary of Selected Healthcare Encounters among a Selection of Patients with Myotonic Muscular Dystrophy.
Bennett KJ, Mann JR, Ouyang L.
South Med J. 2019 Jun;112(6):349-354. doi: 10.14423/SMJ.0000000000000987.

Intra-Rater Reliability and Concurrent Validity of Quantified Muscle Testing for Maximal Knee Extensors Strength in Men with Myotonic Dystrophy Type 1.
Roussel MP, Hébert LJ, Duchesne E.
J Neuromuscul Dis. 2019;6(2):233-240. doi: 10.3233/JND-190388.

MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1.
Flower M, Lomeikaite V, Ciosi M, Cumming S, Morales F, Lo K, Hensman Moss D, Jones L, Holmans P; TRACK-HD Investigators ; OPTIMISTIC Consortium , Monckton DG, Tabrizi SJ.
Brain. 2019 Jun 19. pii: awz115. doi: 10.1093/brain/awz115. [Epub ahead of print]

Cardiovascular manifestations of myotonic dystrophy.
Wahbi K, Furling D.
Trends Cardiovasc Med. 2019 Jun 13. pii: S1050-1738(18)30224-X. doi: 10.1016/j.tcm.2019.06.001. [Epub ahead of print] Review.

Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes.
Overend G, Légaré C, Mathieu J, Bouchard L, Gagnon C, Monckton DG.
Hum Mol Genet. 2019 Jul 1;28(13):2245-2254. doi: 10.1093/hmg/ddz055.

MRI of trunk muscles and motor and respiratory function in patients with myotonic dystrophy type 1.
Solbakken G, Bjørnarå B, Kirkhus E, Nguyen B, Hansen G, Frich JC, Ørstavik K.
BMC Neurol. 2019 Jun 19;19(1):135. doi: 10.1186/s12883-019-1357-8.

Lower extremity muscle pathology in myotonic dystrophy type 1 assessed by quantitative MRI.
Heskamp L, van Nimwegen M, Ploegmakers MJ, Bassez G, Deux JF, Cumming SA, Monckton DG, van Engelen BGM, Heerschap A.
Neurology. 2019 Jun 11;92(24):e2803-e2814. doi: 10.1212/WNL.0000000000007648. Epub 2019 May 22.

Genome Editing of Expanded CTG Repeats within the Human DMPK Gene Reduces Nuclear RNA Foci in the Muscle of DM1 Mice.
Lo Scrudato M, Poulard K, Sourd C, Tomé S, Klein AF, Corre G, Huguet A, Furling D, Gourdon G, Buj-Bello A.
Mol Ther. 2019 Jun 5. pii: S1525-0016(19)30268-0. doi: 10.1016/j.ymthe.2019.05.021. [Epub ahead of print]

The prevalence of faecal incontinence in myotonic dystrophy type 1.
Petty RKH, Eugenicos MP, Hamilton MJ, Farrugia ME, Robb Y, Ballantyne R, Gregory H, McWilliam C, Longman C.
Neuromuscul Disord. 2019 Jun 7. pii: S0960-8966(18)31261-6. doi: 10.1016/j.nmd.2019.05.009. [Epub ahead of print]

Modulating RNA secondary and tertiary structures by mismatch binding ligands.
Murata A, Nakamori M, Nakatani K.
Methods. 2019 May 9. pii: S1046-2023(18)30372-4. doi: 10.1016/j.ymeth.2019.05.006. [Epub ahead of print] Review.

Body Composition in Patients with Congenital Myotonic Dystrophy.
Ceballos-Sáenz D, Zapata-Aldana E, Singeris S, Hicks R, Johnson N, Campbell C.
Muscle Nerve. 2019 May 10. doi: 10.1002/mus.26509. [Epub ahead of print]

Lower extremity muscle pathology in myotonic dystrophy type 1 assessed by quantitative MRI.
Heskamp L, van Nimwegen M, Ploegmakers MJ, Bassez G, Deux JF, Cumming SA, Monckton DG, van Engelen BGM, Heerschap A.
Neurology. 2019 May 22. pii: 10.1212/WNL.0000000000007648. doi: 10.1212/WNL.0000000000007648. [Epub ahead of print]

(CTG)n repeat-mediated dysregulation of MBNL1 and MBNL2 expression during myogenesis in DM1 occurs already at the myoblast stage.
André LM, van Cruchten RTP, Willemse M, Wansink DG.
PLoS One. 2019 May 22;14(5):e0217317. doi: 10.1371/journal.pone.0217317. eCollection 2019.

Development of novel macrocyclic small molecules that target CTG trinucleotide repeats.
Serrano JF, Lee J, Daniel Curet L, Hagler LD, Bonson SE, Schuster EJ, Zimmerman SC.
Bioorg Med Chem. 2019 May 14. pii: S0968-0896(19)30315-3. doi: 10.1016/j.bmc.2019.05.022. [Epub ahead of print]

Respiratory Care of Patients With Neuromuscular Disease.
Benditt JO.
Respir Care. 2019 Jun;64(6):679-688. doi: 10.4187/respcare.06827.

Unprecedented Hydrophobic Stabilizations from a Reverse Wobble T·T Mispair in DNA Minidumbbell.
Guo P, Lam SL.
J Biomol Struct Dyn. 2019 May 20:1-11. doi: 10.1080/07391102.2019.1621211. [Epub ahead of print]

Advances in imaging of brain abnormalities in neuromuscular disease.
Angelini C, Pinzan E.
Ther Adv Neurol Disord. 2019 May 6;12:1756286419845567. doi: 10.1177/1756286419845567. eCollection 2019. Review.

Modulating RNA secondary and tertiary structures by mismatch binding ligands.
Murata A, Nakamori M, Nakatani K.
Methods. 2019 May 9. pii: S1046-2023(18)30372-4. doi: 10.1016/j.ymeth.2019.05.006. [Epub ahead of print] Review.

Oropharyngeal dysphagia in early stages of myotonic dystrophy type 1.
Franco-Guerrero AA, Márquez-Quiroz LC, Valadéz-Jiménez VM, Cortés H, Murillo-Melo NM, Muñoz B, Cisneros B, Magaña JJ.
Muscle Nerve. 2019 Apr 17. doi: 10.1002/mus.26485. [Epub ahead of print]

Intrinsically cell-penetrating multivalent and multitargeting ligands for myotonic dystrophy type 1.
Lee J, Bai Y, Chembazhi UV, Peng S, Yum K, Luu LM, Hagler LD, Serrano JF, Chan HYE, Kalsotra A, Zimmerman SC.
Proc Natl Acad Sci U S A.2019 Apr 11. pii: 201820827. doi: 10.1073/pnas.1820827116. [Epub ahead of print]

MBNL1 overexpression is not sufficient to rescue the phenotypes in a mouse model of RNA toxicity.
Yadava RS, Kim YK, Mandal M, Mahadevan K, Gladman JT, Yu Q, Mahadevan MS.
Hum Mol Genet.2019 Apr 1. pii: ddz065. doi: 10.1093/hmg/ddz065. [Epub ahead of print]

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.
Gutiérrez Gutiérrez G, Díaz-Manera J, Almendrote M, Azriel S, Eulalio Bárcena J, Cabezudo García P, Camacho Salas A, Casanova Rodríguez C, Cobo AM, Díaz Guardiola P, Fernández-Torrón R, Gallano Petit MP, García Pavía P, Gómez Gallego M, Gutiérrez Martínez AJ, Jericó I, Kapetanovic García S, López de Munaín Arregui A, Martorell L, Morís de la Tassa G, Moreno Zabaleta R, Muñoz-Blanco JL, Olivar Roldán J, Pascual Pascual SI, Peinado Peinado R, Pérez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolomé A, Rubio Pérez MÁ, Urtizberea JA, Zapata-Wainberg G, Gutiérrez-Rivas E.
Neurologia. 2019 Apr 16. pii: S0213-4853(19)30019-2. doi: 10.1016/j.nrl.2019.01.001. [Epub ahead of print]

White Matter Lesions Detected by Magnetic Resonance Imaging in Neonates and Children With Congenital Myotonic Dystrophy.
Peglar LM, Nagaraj UD, Tian C, Venkatesan C.
Pediatr Neurol. 2019 Mar 13. pii: S0887-8994(18)31141-X. doi: 10.1016/j.pediatrneurol.2019.03.004. [Epub ahead of print]

Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1.
Voellenkle C, Perfetti A, Carrara M, Fuschi P, Renna LV, Longo M, Sain SB, Cardani R, Valaperta R, Silvestri G, Legnini I, Bozzoni I, Furling D, Gaetano C, Falcone G, Meola G, Martelli F.
Int J Mol Sci. 2019 Apr 19;20(8). pii: E1938. doi: 10.3390/ijms20081938.

Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1.
Corrales E, Vásquez M, Zhang B, Santamaría-Ulloa C, Cuenca P, Krahe R, Monckton DG, Morales F.
PLoS One.2019 May 2;14(5):e0216407. doi: 10.1371/journal.pone.0216407. eCollection 2019.

C9orf72 and Triplet Repeat Disorder RNAs: G-quadruplex formation, binding to PRC2 and implications for disease mechanisms.
Wang X, Goodrich KJ, Conlon EG, Gao J, Erbse AH, Manley JL, Cech TR.
RNA. 2019 May 2. pii: rna.071191.119. doi: 10.1261/rna.071191.119. [Epub ahead of print]

Myocardial fibrosis by late gadolinium enhancement cardiovascular magnetic resonance in myotonicmuscular dystrophy type 1: highly prevalent but not associated with surface conduction abnormality.
Cardona A, Arnold WD, Kissel JT, Raman SV, Zareba KM.
J Cardiovasc Magn Reson. 2019 May 2;21(1):26. doi: 10.1186/s12968-019-0535-6.

Clinical implication of maximal voluntary ventilation in myotonic muscular dystrophy.
Suh MR, Kim DH, Jung J, Kim B, Lee JW, Choi WA, Kang SW.
Medicine (Baltimore).2019 May;98(18):e15321. doi: 10.1097/MD.0000000000015321.

Precise small-molecule cleavage of an r(CUG) repeat expansion in a myotonic dystrophy mouse model.
Angelbello AJ, Rzuczek SG, Mckee KK, Chen JL, Olafson H, Cameron MD, Moss WN, Wang ET, Disney MD.
Proc Natl Acad Sci U S A.2019 Mar 29. pii: 201901484. doi: 10.1073/pnas.1901484116. [Epub ahead of print]

Perceived fatigue in myotonic dystrophy type 1: a case-control study.
Winblad S, Lindberg C.
BMC Neurol. 2019 Mar 28;19(1):45. doi: 10.1186/s12883-019-1280-z.

Aberrant insulin receptor expression is associated with insulin resistance and skeletal muscle atrophy in myotonic dystrophies.
Renna LV, Bosè F, Brigonzi E, Fossati B, Meola G, Cardani R.
PLoS One.2019 Mar 22;14(3):e0214254. doi: 10.1371/journal.pone.0214254. eCollection 2019.

Sleep-disordered breathing and effects of non-invasive ventilation on objective sleep and nocturnal respiration in patients with myotonic dystrophy type I.
Spiesshoefer J, Runte M, Heidbreder A, Dreher M, Young P, Brix T, Boentert M.
Neuromuscul Disord. 2019 Feb 19. pii: S0960-8966(18)31259-8. doi: 10.1016/j.nmd.2019.02.006. [Epub ahead of print]

A model to predict ventilator requirement in Myotonic Dystrophy Type 1.
Vivekananda U, Turner C.
Muscle Nerve. 2019 Mar 21. doi: 10.1002/mus.26471. [Epub ahead of print]

Abnormal nuclear aggregation and myotube degeneration in myotonic dystrophy type 1.
Wang Y, Hao L, Li H, Cleary JD, Tomac MP, Thapa A, Guo X, Zeng D, Wang H, McRae M, Jastrzemski O, Smith-Fassler AM, Xu Y, Xia G.
Neurol Sci. 2019 Mar 19. doi: 10.1007/s10072-019-03783-w. [Epub ahead of print]

Affective symptoms and apathy in myotonic dystrophy type 1 a systematic review and meta-analysis.
van der Velden BG, Okkersen K, Kessels RP, Groenewoud J, van Engelen B, Knoop H, Raaphorst J.
J Affect Disord. 2019 Mar 7;250:260-269. doi: 10.1016/j.jad.2019.03.036. [Epub ahead of print]

Uncovering health and social care needs among myotonic dystrophy patients: Utility of the Needs and Provisions Complexity Scale.
Holmøy AKT, Johannessen CH, Hope S, van Walsem MR, Aanonsen NO, Hassel B.
Acta Neurol Scand. 2019 Mar 8. doi: 10.1111/ane.13086. [Epub ahead of print]

What is known about the effects of exercise or training to reduce skeletal muscle impairments of patients with myotonic dystrophy type 1? A scoping review.
Roussel MP, Morin M, Gagnon C, Duchesne E.
BMC Musculoskelet Disord. 2019 Mar 5;20(1):101. doi: 10.1186/s12891-019-2458-7.

The role of the protein-RNA recognition code in neurodegeneration.
Nahalka J.
Cell Mol Life Sci. 2019 Apr 12. doi: 10.1007/s00018-019-03096-3. [Epub ahead of print]

Dysregulation of Calcium Metabolism in Type 1 Myotonic Dystrophy.
Hlaing PM, Scott IA, Jackson RV.
Intern Med J. 2019 Apr 9. doi: 10.1111/imj.14307. [Epub ahead of print]

Metabolic impairments in patients with myotonic dystrophy type 2.
Vujnic M, Peric S, Calic Z, Benovic N, Nisic T, Pesovic J, Savic-Pavicevic D, Rakocevic-Stojanovic V.
Acta Myol. 2018 Dec 1;37(4):252-256. eCollection 2018 Dec.

Expanded CUG Repeats Trigger Disease Phenotype and Expression Changes through the RNAi Machinery in C. elegans.
Qawasmi L, Braun M, Guberman I, Cohen E, Naddaf L, Mellul A, Matilainen O, Roitenberg N, Share D, Stupp D, Chahine H, Cohen E, Garcia SMDA, Tabach Y.
J Mol Biol. 2019 Mar 14. pii: S0022-2836(19)30121-4. doi: 10.1016/j.jmb.2019.03.003. [Epub ahead of print] Review.

Sleep Complaints, Sleep and Breathing Disorders in Myotonic Dystrophy Type 2.
Romigi A, Maestri M, Nicoletta C, Vitrani G, Caccamo M, Siciliano G, Bonanni E, Centonze D, Sanduzzi A.
Curr Neurol Neurosci Rep. 2019 Feb 9;19(2):9. doi: 10.1007/s11910-019-0924-0. Review.

Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes.
Kim EY, Barefield DY, Vo AH, Gacita AM, Schuster EJ, Wyatt EJ, Davis JL, Dong B, Sun C, Page P, Dellefave-Castillo L, Demonbreun A, Zhang HF, McNally EM.
JCI Insight. 2019 Feb 7. pii: 122686. doi: 10.1172/jci.insight.122686. [Epub ahead of print]

Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance.
Ben Hamou A, Espiard S, Do Cao C, Ladsous M, Loyer C, Moerman A, Boury S, Kyheng M, Dhaenens CM, Tiffreau V, Pigny P, Lebuffe G, Caiazzo R, Aubert S, Vantyghem MC.
Orphanet J Rare Dis. 2019 Feb 13;14(1):42. doi: 10.1186/s13023-019-1019-3.

Non-invasive evaluation of the relationship between electrical and structural cardiac abnormalities in patients with myotonic dystrophy type 1.
Chmielewski L, Bietenbeck M, Patrascu A, Rösch S, Sechtem U, Yilmaz A, Florian AR.
Clin Res Cardiol. 2019 Feb 14. doi: 10.1007/s00392-019-01414-0. [Epub ahead of print]

Respiratory dysfunction in myotonic dystrophy type 1: A systematic review.
Hawkins AM, Hawkins CL, Abdul Razak K, Khoo TK, Tran K, Jackson RV.
Neuromuscul Disord. 2018 Dec 9. pii: S0960-8966(18)30449-8. doi: 10.1016/j.nmd.2018.12.002. [Epub ahead of print] Review.

CRISPR-cas gene-editing as plausible treatment of neuromuscular and nucleotide-repeat-expansion diseases: A systematic review.
Babačić H, Mehta A, Merkel O, Schoser B.
PLoS One. 2019 Feb 22;14(2):e0212198. doi: 10.1371/journal.pone.0212198. eCollection 2019.

Body composition analysis in patients with myotonic dystrophy types 1 and 2.
Peric S, Bozovic I, Nisic T, Banovic M, Vujnic M, Svabic T, Pesovic J, Brankovic M, Basta I, Jankovic M, Savic-Pavicevic D, Rakocevic-Stojanovic V.
Neurol Sci. 2019 Feb 21. doi: 10.1007/s10072-019-03763-0. [Epub ahead of print]

Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study.
Rossi S, Della Marca G, Ricci M, Perna A, Nicoletti TF, Brunetti V, Meleo E, Calvello M, Petrucci A, Antonini G, Bucci E, Licchelli L, Sancricca C, Massa R, Rastelli E, Botta A, Di Muzio A, Romano S, Garibaldi M, Silvestri G.
J Neurol Sci. 2019 Feb 7;399:118-124. doi: 10.1016/j.jns.2019.02.012. [Epub ahead of print]

Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle.
Vita G, Vita GL, Musumeci O, Rodolico C, Messina S.
Neurol Sci. 2019 Feb 25. doi: 10.1007/s10072-019-03764-z. [Epub ahead of print]

Progressive decline in daily and social activities: A 9-year longitudinal study of participation in myotonic dystrophy type 1.
Raymond K, Levasseur M, Mathieu J, Gagnon C.
Arch Phys Med Rehabil. 2019 Mar 1. pii: S0003-9993(19)30148-0. doi: 10.1016/j.apmr.2019.01.022. [Epub ahead of print]

Conserved functions of RNA-binding proteins in muscle.
Nikonova E, Kao SY, Ravichandran K, Wittner A, Spletter ML.
Int J Biochem Cell Biol. 2019 Feb 25;110:29-49. doi: 10.1016/j.biocel.2019.02.008. [Epub ahead of print]

The Myotonic Dystrophy Health Index: Japanese Adaption and Validity Testing.
Mori I, Fujino H, Matsumura T, Takada H, Ogata K, Nakamori M, Innami K, Shingaki H, Imura O, Takahashi MP, Heatwole C.
Muscle Nerve. 2019 Jan 25. doi: 10.1002/mus.26422. [Epub ahead of print]

Health-related quality of life and its correlates in Japanese patients with myotonic dystrophy type 1.
Endo M, Odaira K, Ono R, Kurauchi G, Koseki A, Goto M, Sato Y, Kon S, Watanabe N, Sugawara N, Takada H, Kimura E.
Neuropsychiatr Dis Treat. 2019 Jan 14;15:219-226. doi: 10.2147/NDT.S187607. eCollection 2019.

The Myotonic Dystrophy Experience: A North American Cross-Sectional Study.
Hagerman KA, Howe SJ, Heatwole CE; Christopher Project Reference Group.
Muscle Nerve. 2019 Jan 24. doi: 10.1002/mus.26420. [Epub ahead of print]

A Nationwide, Population-Based Prevalence Study of Genetic Muscle Disorders.
Theadom A, Rodrigues M, Poke G, O'Grady G, Love D, Hammond-Tooke G, Parmar P, Baker R, Feigin V, Jones K, Te Ao B, Ranta A, Roxburgh R; On Behalf of the MDPrev Research Group.
Neuroepidemiology. 2019 Jan 18;52(3-4):128-135. doi: 10.1159/000494115. [Epub ahead of print]

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.
Lagrue E, Dogan C, De Antonio M, Audic F, Bach N, Barnerias C, Bellance R, Cances C, Chabrol B, Cuisset JM, Desguerre I, Durigneux J, Espil C, Fradin M, Héron D, Isapof A, Jacquin-Piques A, Journel H, Laroche-Raynaud C, Laugel V, Magot A, Manel V, Mayer M, Péréon Y, Perrier-Boeswillald J, Peudenier S, Quijano-Roy S, Ragot-Mandry S, Richelme C, Rivier F, Sabouraud P, Sarret C, Testard H, Vanhulle C, Walther-Louvier U, Gherardi R, Hamroun D, Bassez G.
Neurology. 2019 Jan 18. pii: 10.1212/WNL.0000000000006948. doi: 10.1212/WNL.0000000000006948. [Epub ahead of print]

Pluripotent Stem Cell-Based Drug Screening Reveals Cardiac Glycosides as Modulators of Myotonic Dystrophy Type 1.
Maury Y, Poydenot P, Brinon B, Lesueur L, Gide J, Roquevière S, Côme J, Polvèche H, Auboeuf D, Alexandre Denis J, Pietu G, Furling D, Lechuga M, Baghdoyan S, Peschanski M, Martinat C.
iScience. 2019 Jan 25;11:258-271. doi: 10.1016/j.isci.2018.12.019. Epub 2018 Dec 27.

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.
Gutiérrez Gutiérrez G, Díaz-Manera J, Almendrote M, Azriel S, Eulalio Bárcena J, Cabezudo García P, Camacho Salas A, Casanova Rodríguez C, Cobo Esteban AM, Díaz Guardiola P, Fernández-Torrón R, Gallano Petit MP, García Pavía P, Gómez Gallego M, Gutiérrez Martínez AJ, Jericó I, Kapetanovic García S, López de Munaín Arregui A, Martorell L, Morís de la Tassa G, Moreno Zabaleta R, Muñoz-Blanco JL, Olivar Roldán J, Pascual Pascual SI, Peinado Peinado R, Pérez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolomé A, Rubio Pérez MÁ, Urtizberea JA, Zapata-Wainberg G, Gutiérrez-Rivas E.
Med Clin (Barc). 2019 Jan 23. pii: S0025-7753(18)30731-0. doi: 10.1016/j.medcli.2018.10.028. [Epub ahead of print]

Accuracy of B-natriuretic peptide for the diagnosis of decompensated heart failure in muscular dystrophies patients with chronic respiratory failure.
Meng P, Nguyen LS, Jabbour F, Ogna A, Clair B, Orlikowski D, Annane D, Lofaso F, Fayssoil A.
Neurol Int. 2018 Dec 20;10(4):7917. doi: 10.4081/ni.2018.7917. eCollection 2018 Dec 5.

Expanded CUG repeats in DMPK transcripts adopt diverse hairpin conformations without influencing the structure of the flanking sequences.
van Cruchten RTP, Wieringa B, Wansink DG.
RNA. 2019 Jan 30. pii: rna.068940.118. doi: 10.1261/rna.068940.118. [Epub ahead of print]

Cognitive and adaptive functioning in congenital and childhood forms of myotonic dystrophy type 1: a longitudinal study.
Lindeblad G, Kroksmark AK, Ekström AB.
Dev Med Child Neurol. 2019 Jan 31. doi: 10.1111/dmcn.14161. [Epub ahead of print]

Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review.
Landfeldt E, Edström J, Jimenez-Moreno C, van Engelen BGM, Kirschner J, Lochmüller H.
Patient. 2019 Feb 4. doi: 10.1007/s40271-019-00357-y. [Epub ahead of print] Review.

Comparison of brain magnetic resonance imaging between myotonic dystrophy type 1 and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
Kim H, Lim YM, Oh YJ, Lee EJ, Kim KK.
PLoS One. 2018 Dec 6;13(12):e0208620. doi: 10.1371/journal.pone.0208620. eCollection 2018.

Mrc1 and Tof1 prevent fragility and instability at long CAG repeats by their fork stabilizing function.
Gellon L, Kaushal S, Cebrián J, Lahiri M, Mirkin SM, Freudenreich CH.
Nucleic Acids Res. 2018 Nov 23. doi: 10.1093/nar/gky1195. [Epub ahead of print]

Non-invasive monitoring of alternative splicing outcomes to identify candidate therapies for myotonic dystrophy type 1.
Hu N, Antoury L, Baran TM, Mitra S, Bennett CF, Rigo F, Foster TH, Wheeler TM.
Nat Commun. 2018 Dec 7;9(1):5227. doi: 10.1038/s41467-018-07517-y.

Heart involvement in patients with myotonic dystrophy type 2.
Peric S, Bjelica B, Aleksic K, Kovacevic M, Cvitan E, Mandic Stojmenovic G, Rakocevic Stojanovic V.
Acta Neurol Belg. 2018 Dec 7. doi: 10.1007/s13760-018-1052-3. [Epub ahead of print]

Cancer Risk in Myotonic Dystrophy Type I: Evidence of a Role for Disease Severity.
Alsaggaf R, St George DMM, Zhan M, Pfeiffer RM, Wang Y, Wagner KR, Greene MH, Amr S, Gadalla SM.
JNCI Cancer Spectr. 2018 Nov;2(4):pky052. doi: 10.1093/jncics/pky052. Epub 2018 Dec 10.

Cannabis use in myotonic dystrophy patients in Germany and USA: a pilot survey.
Montagnese F, White M, Klein A, Stahl K, Wenninger S, Schoser B.
J Neurol. 2018 Dec 15. doi: 10.1007/s00415-018-9159-2. [Epub ahead of print]

Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPKExpansions in Somatic Cells.
Pešović J, Perić S, Brkušanin M, Brajušković G, Rakočević-Stojanović V, Savić-Pavićević D.
Front Genet. 2018 Nov 27;9:601. doi: 10.3389/fgene.2018.00601. eCollection 2018.

Human iPSC Models to Study Orphan Diseases: Muscular Dystrophies.
Xia G, Terada N, Ashizawa T.
Curr Stem Cell Rep. 2018;4(4):299-309. doi: 10.1007/s40778-018-0145-5. Epub 2018 Oct 4.

Structural white matter networks in myotonic dystrophy type 1.
van Dorst M, Okkersen K, Kessels RPC, Meijer FJA, Monckton DG, van Engelen BGM, Tuladhar AM, Raaphorst J; OPTIMISTIC consortium.
Neuroimage Clin. 2018 Nov 28. pii: S2213-1582(18)30360-7. doi: 10.1016/j.nicl.2018.101615. [Epub ahead of print]

Consensus-based care recommendations for adults with myotonic dystrophy type 1.
Ashizawa T, Gagnon C, Groh WJ, Gutmann L, Johnson NE, Meola G, Moxley R 3rd, Pandya S, Rogers MT, Simpson E, Angeard N, Bassez G, Berggren KN, Bhakta D, Bozzali M, Broderick A, Byrne JLB, Campbell C, Cup E, Day JW, De Mattia E, Duboc D, Duong T, Eichinger K, Ekstrom AB, van Engelen B, Esparis B, Eymard B, Ferschl M, Gadalla SM, Gallais B, Goodglick T, Heatwole C, Hilbert J, Holland V, Kierkegaard M, Koopman WJ, Lane K, Maas D, Mankodi A, Mathews KD, Monckton DG, Moser D, Nazarian S, Nguyen L, Nopoulos P, Petty R, Phetteplace J, Puymirat J, Raman S, Richer L, Roma E, Sampson J, Sansone V, Schoser B, Sterling L, Statland J, Subramony SH, Tian C, Trujillo C, Tomaselli G, Turner C, Venance S, Verma A, White M, Winblad S.
Neurol Clin Pract. 2018 Dec;8(6):507-520. doi: 10.1212/CPJ.0000000000000531.

2018 ACC/AHA/HRS Guideline on the Evaluation and Management of Patients With Bradycardia and Cardiac Conduction Delay.
Kusumoto FM, Schoenfeld MH, Barrett C, Edgerton JR, Ellenbogen KA, Gold MR, Goldschlager NF, Hamilton RM, Joglar JA, Kim RJ, Lee R, Marine JE, McLeod CJ, Oken KR, Patton KK, Pellegrini CN, Selzman KA, Thompson A, Varosy PD.
Circulation. 2018 Nov 6:CIR0000000000000628. doi: 10.1161/CIR.0000000000000628. [Epub ahead of print]

2018 ACC/AHA/HRS Guideline on the Evaluation and Management of Patients With Bradycardia and Cardiac Conduction Delay: Executive Summary.
Kusumoto FM, Schoenfeld MH, Barrett C, Edgerton JR, Ellenbogen KA, Gold MR, Goldschlager NF, Hamilton RM, Joglar JA, Kim RJ, Lee R, Marine JE, McLeod CJ, Oken KR, Patton KK, Pellegrini CN, Selzman KA, Thompson A, Varosy PD.
Circulation. 2018 Nov 6:CIR0000000000000627. doi: 10.1161/CIR.0000000000000627. [Epub ahead of print]

Quantitative myotonia assessment using a commercially-available dynamometer in myotonic dystrophy types 1 and 2.
Horáková M, Horák T, Parmová O, Bednařík J, Voháňka S.
Muscle Nerve. 2018 Dec 21. doi: 10.1002/mus.26401. [Epub ahead of print]

Gender difference in clinical conditions among hospitalized adults with myotonic dystrophy.
Ouyang L, Wang Y, Valdez R, Johnson N, Gutmann L, Street N, Bolen J.
Muscle Nerve. 2018 Dec 21. doi: 10.1002/mus.26402. [Epub ahead of print]

Understanding left ventricular hypertrabeculation/noncompaction: pathomorphologic findings and prognostic impact of neuromuscular comorbidities.
Stöllberger C, Finsterer J.
Expert Rev Cardiovasc Ther. 2018 Dec 20. doi: 10.1080/14779072.2019.1561280. [Epub ahead of print]

Dissecting Pathogenetic Mechanisms and Therapeutic Strategies in Drosophila Models of Myotonic Dystrophy Type 1.
Souidi A, Zmojdzian M, Jagla K.
Int J Mol Sci. 2018 Dec 18;19(12). pii: E4104. doi: 10.3390/ijms19124104

Transcriptome alterations in myotonic dystrophy skeletal muscle and heart.
Wang ET, Treacy D, Eichinger K, Struck A, Estabrook J, Olafson H, Wang TT, Bhatt K, Westbrook T, Sedehizadeh S, Ward A, Day J, Brook D, Berglund JA, Cooper T, Housman D, Thornton C, Burge C.
Hum Mol Genet. 2018 Dec 17. doi: 10.1093/hmg/ddy432. [Epub ahead of print]

Making gene editing a therapeutic reality.
Conboy I, Murthy N, Etienne J, Robinson Z.
F1000Res. 2018 Dec 21;7. pii: F1000 Faculty Rev-1970. doi: 10.12688/f1000research.16106.1. eCollection 2018.

Could weight loss contribute to the improved mobility with metformin in patients with myotonic dystrophy type 1?
Carvalho V, Martins J.
Brain. 2019 Jan 7. doi: 10.1093/brain/awy335. [Epub ahead of print]

Chronic exercise mitigates disease mechanisms and improves muscle function in myotonic dystrophy type 1 mice.
Manta A, Stouth DW, Xhuti D, Chi L, Rebalka IA, Kalmar JM, Hawke TJ, Ljubicic V.
J Physiol. 2019 Jan 10. doi: 10.1113/JP277123. [Epub ahead of print]

µLAS: Sizing of expanded trinucleotide repeats with femtomolar sensitivity in less than 5 minutes.
Malbec R, Chami B, Aeschbach L, Ruiz Buendía GA, Socol M, Joseph P, Leïchlé T, Trofimenko E, Bancaud A, Dion V.
Sci Rep. 2019 Jan 10;9(1):23. doi: 10.1038/s41598-018-36632-5.

2018

Therapeutic Genome Editing for Myotonic Dystrophy Type 1 Using CRISPR/Cas9.
Wang Y, Hao L, Wang H, Santostefano K, Thapa A, Cleary J, Li H, Guo X, Terada N, Ashizawa T, Xia G.
Mol Ther. 2018 Sep 11. pii: S1525-0016(18)30444-1. doi: 10.1016/j.ymthe.2018.09.003. [Epub ahead of print]

Disturbed Ca₂₊ Homeostasis in Muscle-Wasting Disorders.
Avila G.
Adv Exp Med Biol. 2018;1088:307-326. doi: 10.1007/978-981-13-1435-3_14.

Comparative Sleep Disturbances in Myotonic Dystrophy Types 1 and 2.
Romigi A, Franco V, Placidi F, Liguori C, Rastelli E, Vitrani G, Centonze D, Massa R.
Curr Neurol Neurosci Rep. 2018 Oct 31;18(12):102. doi: 10.1007/s11910-018-0903-x.

Drugging the RNA World.
Disney MD, Dwyer BG, Childs-Disney JL.
Cold Spring Harb Perspect Biol. 2018 Nov 1;10(11). pii: a034769. doi: 10.1101/cshperspect.a034769.

A potential role of extended simple sequence repeats in competing endogenous RNA crosstalk.
Witkos TM, Krzyzosiak WJ, Fiszer A, Koscianska E.
RNA Biol. 2018 Nov 5:1-11. doi: 10.1080/15476286.2018.1536593. [Epub ahead of print]

Nuclear Envelope Transmembrane Proteins in Myotonic Dystrophy Type 1.
Hintze S, Knaier L, Limmer S, Schoser B, Meinke P.
Front Physiol. 2018 Oct 30;9:1532. doi: 10.3389/fphys.2018.01532. eCollection 2018.

A study of the impact of DNA helical rise on protein-DNA interaction.
Pedone F, Mazzei F, Santoni D.
Genomics. 2018 Nov 16. pii: S0888-7543(18)30308-2. doi: 10.1016/j.ygeno.2018.11.009. [Epub ahead of print]

Cardiac Phenotypes in Hereditary Muscle Disorders: JACC State-of-the-Art Review.
Arbustini E, Di Toro A, Giuliani L, Favalli V, Narula N, Grasso M.
J Am Coll Cardiol. 2018 Nov 13;72(20):2485-2506. doi: 10.1016/j.jacc.2018.08.2182. Review.

Meet and eat, an interdisciplinary group intervention for patients with myotonic dystrophy about healthy nutrition, meal preparation, and consumption: a feasibility study.
van Hees SGM, Knuijt S, Dicke H, Groothuis JT, Raaphorst J, Satink T, Cup EHC.
Disabil Rehabil. 2018 Nov 20:1-8. doi: 10.1080/09638288.2018.1528305. [Epub ahead of print]

Inhospital Complications of Patients With Neuromuscular Disorders Undergoing Total Joint Arthroplasty.
Cichos KH, Lehtonen EJ, McGwin G Jr, Ponce BA, Ghanem ES.
J Am Acad Orthop Surg. 2018 Oct 2. doi: 10.5435/JAAOS-D-18-00312. [Epub ahead of print]

How to Interpret Abnormal Findings of Spirometry and Manometry in Myotonic Dystrophies?
Haris B, Olga G, Kristina S, Federica M, Vindi J, Benedikt S, Stephan W.
J Neuromuscul Dis. 2018 Sep 25. doi: 10.3233/JND-180331. [Epub ahead of print]

Mir-206 partially rescues myogenesis deficiency by inhibiting CUGBP1 accumulation in the cell models of myotonic dystrophy.
Dong W, Chen X, Wang M, Zheng Z, Zhang X, Xiao Q, Peng X.
Neurol Res. 2018 Oct 3:1-10. doi: 10.1080/01616412.2018.1493963. [Epub ahead of print]

Stepping Activity in Children With Congenital Myotonic Dystrophy.
Hayes HA, Dibella D, Crockett R, Dixon M, Butterfield RJ, Johnson NE.
Pediatr Phys Ther. 2018 Oct;30(4):335-339. doi: 10.1097/PEP.0000000000000537.

Therapeutic Genome Editing for Myotonic Dystrophy Type 1 Using CRISPR/Cas9.
Wang Y, Hao L, Wang H, Santostefano K, Thapa A, Cleary J, Li H, Guo X, Terada N, Ashizawa T, Xia G.
Mol Ther. 2018 Sep 11. pii: S1525-0016(18)30444-1. doi: 10.1016/j.ymthe.2018.09.003. [Epub ahead of print]

Validation of the Nine Hole Peg Test as a measure of dexterity in myotonic dystrophy type 1.
Cutellè C, Rastelli E, Gibellini M, Greco G, Frezza E, Botta A, Terracciano C, Massa R.
Neuromuscul Disord. 2018 Aug 31. pii: S0960-8966(18)30553-4. doi: 10.1016/j.nmd.2018.08.011. [Epub ahead of print]

Genotype-Phenotype Correlations in Pediatric Patients with Myotonic Dystrophy Type 1.
Kim HJ, Na JH, Lee YM.
Korean J Pediatr. 2018 Sep 23. doi: 10.3345/kjp.2018.06919. [Epub ahead of print]

A dimeric 2,9-diamino-1,10-phenanthroline derivative improves alternative splicing in myotonic dystrophy type 1 cell and mouse models.
Li J, Nakamori M, Matsumoto J, Murata A, Dohno C, Kiliszek A, Taylor K, Sobczak K, Nakatani K.
Chemistry. 2018 Oct 10. doi: 10.1002/chem.201804368. [Epub ahead of print]

Myotonic Dystrophies: Targeting Therapies for Multisystem Disease.
LoRusso S, Weiner B, Arnold WD.
Neurotherapeutics. 2018 Oct 18. doi: 10.1007/s13311-018-00679-z. [Epub ahead of print] Review.

Activation of the interferon type I response rather than autophagy contributes to myogenesis inhibition in congenital DM1 myoblasts.
Rizzo M, Beffy P, Del Carratore R, Falleni A, Pretini V, D'Aurizio R, Botta A, Evangelista M, Stoccoro A, Coppedè F, Furling D, Simili M.
Cell Death Dis. 2018 Oct 19;9(11):1071. doi: 10.1038/s41419-018-1080-1.

Outcome Measures for Central Nervous System Evaluation in Myotonic Dystrophy Type 1 May Be Confounded by Deficits in Motor Function or Insight.
Hamilton MJ, McLean J, Cumming S, Ballantyne B, McGhie J, Jampana R, Longman C, Evans JJ, Monckton DG, Farrugia ME.
Front Neurol. 2018 Oct 2;9:780. doi: 10.3389/fneur.2018.00780. eCollection 2018.

Diffusion tensor imaging and voxel-based morphometry reveal corticospinal tract involvement in the motor dysfunction of adult-onset myotonic dystrophy type 1.
Park JS, Song H, Jang KE, Cha H, Lee SH, Hwang SK, Park D, Lee HJ, Kim JY, Chang Y.
Sci Rep. 2018 Oct 22;8(1):15592. doi: 10.1038/s41598-018-34048-9.

Experiences with bariatric surgery in patients with facioscapulohumeral dystrophy and myotonic dystrophy type 1: A qualitative study.
Abel EEDH, Cup EHC, Lanser A, Leclercq WKG, Raaphorst J, Padberg GW, Satink T, Voermans NC.
Neuromuscul Disord. 2018 Sep 19. pii: S0960-8966(18)31021-6. doi: 10.1016/j.nmd.2018.09.003. [Epub ahead of print]

RNA/MBNL1-containing foci in myoblast nuclei from patients affected by myotonic dystrophy type 2: an immunocytochemical study.
Perdoni F, Malatesta M, Cardani R, Giagnacovo M, Mancinelli E, Meola G, Pellicciari C.
Eur J Histochem. 2009 Sep 30;53(3):e18. doi: 10.4081/ejh.2009.e18. eCollection 2009 Sep 30.

Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies.
Cardani R, Mancinelli E, Giagnacovo M, Sansone V, Meola G.
Eur J Histochem. 2009 Jun 29;53(2):e13. doi: 10.4081/ejh.2009.e13. eCollection 2009 Jun 29.

Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies.
Antoury L, Hu N, Balaj L, Das S, Georghiou S, Darras B, Clark T, Breakefield XO, Wheeler TM.
Nat Commun. 2018 Sep 25;9(1):3906. doi: 10.1038/s41467-018-06206-0.

Social cognition in myotonic dystrophy type 1: Specific or secondary impairment?
Labayru G, Arenzana I, Aliri J, Zulaica M, López de Munain A, Sistiaga A A.
PLoS One. 2018 Sep 24;13(9):e0204227. doi: 10.1371/journal.pone.0204227. eCollection 2018.

Report of the third outcome measures in myotonic dystrophy type 1 (OMMYD-3) international workshop Paris, France, June 8, 2015.
Gagnon C, Heatwole C, Hébert LJ, Hogrel JY, Laberge L, Leone M, Meola G, Richer L, Sansone V, Kierkegaard M.
J Neuromuscul Dis. 2018 Sep 14. doi: 10.3233/JND-180329. [Epub ahead of print] No abstract available.

Myotonic Dystrophy Type 2 - Data from the Serbian Registry.
Bozovic I, Peric S, Pesovic J, Bjelica B, Brkusanin M, Basta I, Bozic M, Sencanic I, Marjanovic A, Brankovic M, Savic-Pavicevic D, Rakocevic-Stojanovic V.
J Neuromuscul Dis. 2018 Sep 15. doi: 10.3233/JND-180328. [Epub ahead of print]

Neurophysiological Evidence of Motor Network Reorganization in Myotonic Dystrophy Type 1: A Pilot MEG Study.
Formaggio E, Del Felice A, Turco C, Cudia P, Baba A, Bevilacqua F, Masiero S, Piccione F.
J Clin Neurophysiol. 2018 Sep 25. doi: 10.1097/WNP.0000000000000508. [Epub ahead of print]

Normalization of frequency-domain parameters of heart rate variability in patients with myotonic dystrophy.
Kurtoglu E, Güven T.
Ann Noninvasive Electrocardiol. 2018 Sep 21:e12606. doi: 10.1111/anec.12606. [Epub ahead of print]

Generation of induced pluripotent stem cell line(ZZUi006-A)from a patient with myotonic dystrophytype 1.
Wang Y, Wang Z, Sun H, Shi C, Yang J, Liu Y, Liu H, Zhang S, Zhang L, Xu Y, Zhang J.
Stem Cell Res. 2018 Aug 22;32:61-64. doi: 10.1016/j.scr.2018.08.013. [Epub ahead of print]

Repeat associated non-ATG (RAN) translation.
Cleary JD, Pattamatta A, Ranum LPW.
J Biol Chem. 2018 Sep 13. pii: jbc.R118.003237. doi: 10.1074/jbc.R118.003237. [Epub ahead of print]

CRISPR-Mediated Expression of the Fetal Scn5a Isoform in Adult Mice Causes Conduction Defects and Arrhythmias
Pang PD, Alsina KM, Cao S, Koushik AB, Wehrens XHT, Cooper TA
Am Heart Assoc. 2018;7:e010393.

RNA-mediated therapies in myotonic dystrophy.
Overby SJ, Cerro-Herreros E, Llamusi B, Artero R.
Drug Discov Today. 2018 Aug 4. pii: S1359-6446(17)30530-5. doi: 10.1016/j.drudis.2018.08.004. [Epub ahead of print]

Muscular Dystrophy Surveillance, Tracking, and Research Network pilot: Population-based surveillance of major muscular dystrophies at four U.S. sites, 2007-2011.
Do TN, Street N, Donnelly J, Adams MM, Cunniff C, Fox DJ, Weinert RO, Oleszek J, Romitti PA, Westfield CP, Bolen J; Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).
Birth Defects Res. 2018 Aug 2. doi: 10.1002/bdr2.1371. [Epub ahead of print]

Diastolic heart dysfunction is correlated with CTG repeat length in myotonic dystrophy type 1.
Park JS, Kim N, Park D.
Neurol Sci. 2018 Aug 9. doi: 10.1007/s10072-018-3530-z. [Epub ahead of print]

Generation and Neuronal Differentiation of hiPSCs From Patients With Myotonic Dystrophy Type 2.
Spitalieri P, Talarico RV, Murdocca M, Fontana L, Marcaurelio M, Campione E, Massa R, Meola G, Serafino A, Novelli G, Sangiuolo F, Botta A.
Front Physiol. 2018 Jul 27;9:967. doi: 10.3389/fphys.2018.00967. eCollection 2018.

Twenty-four-hour ambulatory ECG monitoring relevancy in myotonic dystrophy type 1 follow-up: Prognostic value and heart rate variability evolution.
Gamet A, Degand B, Le Gal F, Bidegain N, Delaubier A, Gilbert-Dussardier B, Christiaens L, Garcia R.
Ann Noninvasive Electrocardiol. 2018 Aug 12:e12587. doi: 10.1111/anec.12587. [Epub ahead of print]

4',6-Diamidino-2-Phenylindole Distinctly Labels Tau Deposits.
Li C, Takahashi T, Shrestha T, Kinoshita E, Matsubara T, Matsumoto M, Maruyama H.
J Histochem Cytochem. 2018 Aug 14:22155418793600. doi: 10.1369/0022155418793600. [Epub ahead of print]

Furamidine rescues myotonic dystrophy type I associated mis-splicing through multiple mechanisms.
Jenquin JR, Coonrod LA, Silverglate QA, Pellitier NA, Hale MA, Xia G, Nakamori M, Berglund JA.
ACS Chem Biol. 2018 Aug 17. doi: 10.1021/acschembio.8b00646. [Epub ahead of print]

The modified Dynamic Gait Index and Limits of Stability in Myotonic Dystrophy type 1.
Pucillo EM, McIntyre MM, Pautler M, Hung M, Bounsanga J, Voss MW, Hayes H, DiBella DL, Trujillo C, Dixon M, Butterfield RJ, Johnson NE.
Muscle Nerve. 2018 Aug 30. doi: 10.1002/mus.26331. [Epub ahead of print]

Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations.
Krause A, Seymour H, Ramsay M.
Annu Rev Genomics Hum Genet. 2018 Aug 31;19:149-175. doi: 10.1146/annurev-genom-083117-021256.

Improved mobility with metformin in patients with myotonic dystrophy type 1: a randomized controlled trial.
Bassez G, Audureau E, Hogrel JY, Arrouasse R, Baghdoyan S, Bhugaloo H, Gourlay-Chu ML, Le Corvoisier P, Peschanski M.
Brain. 2018 Aug 29. doi: 10.1093/brain/awy231. [Epub ahead of print]

An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases.
Rodrigues M, Yokota T.
Methods Mol Biol. 2018;1828:31-55. doi: 10.1007/978-1-4939-8651-4_2.

Exon Skipping by Ultrasound-Enhanced Delivery of Morpholino with Bubble Liposomes for Myotonic Dystrophy Model Mice.
Negishi Y, Endo-Takahashi Y, Ishiura S.
Methods Mol Biol. 2018;1828:481-487. doi: 10.1007/978-1-4939-8651-4_30.

Analyzing walking speeds with ankle and wrist worn accelerometers in a cohort with myotonic dystrophy.
Jimenez-Moreno AC, Charman SJ, Nikolenko N, Larweh M, Turner C, Gorman G, Lochmüller H, Catt M.
Disabil Rehabil. 2018 Jul 10:1-7. doi: 10.1080/09638288.2018.1482376. [Epub ahead of print]

Pharmacological and physiological activation of AMPK improves the spliceopathy in DM1 mouse muscles.
Ravel-Chapuis A, Al-Rewashdy A, Bélanger G, Jasmin BJ.
Hum Mol Genet. 2018 Jul 3. doi: 10.1093/hmg/ddy245. [Epub ahead of print]

White matter hyperintensities in myotonic dystrophy type 2: Not always another expression of the disease.
Karatzikou M, Bakirtzis C, Nikolaidis J, Parisis D, Grigoriadis N.
Mult Scler Relat Disord. 2018 Jun 30;24:117-119. doi: 10.1016/j.msard.2018.06.020. [Epub ahead of print]

Distribution and Structure of DM2 Repeat Tract Alleles in the German Population.
Mahyera AS, Schneider T, Halliger-Keller B, Schrooten K, Hörner EM, Rost S, Kress W.
Front Neurol. 2018 Jun 19;9:463. doi: 10.3389/fneur.2018.00463. eCollection 2018.

De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1.
Cumming SA, Hamilton MJ, Robb Y, Gregory H, McWilliam C, Cooper A, Adam B, McGhie J, Hamilton G, Herzyk P, Tschannen MR, Worthey E, Petty R, Ballantyne B; Scottish Myotonic Dystrophy Consortium, Warner J, Farrugia ME, Longman C, Monckton DG.
Eur J Hum Genet. 2018 Jul 2. doi: 10.1038/s41431-018-0156-9. [Epub ahead of print]

High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2.
Cappella M, Perfetti A, Cardinali B, Garcia-Manteiga JM, Carrara M, Provenzano C, Fuschi P, Cardani R, Renna LV, Meola G, Falcone G, Martelli F.
Cell Death Dis. 2018 Jun 28;9(7):729. doi: 10.1038/s41419-018-0769-5.

Prenatal, Neonatal, and Early Childhood Features in Congenital Myotonic Dystrophy.
Zapata-Aldana E, Ceballos-Sáenz D, Hicks R, Campbell C.
J Neuromuscul Dis. 2018 Jul 11. doi: 10.3233/JND-170277. [Epub ahead of print]

MBNL splicing activity depends on RNA binding site structural context.
Taylor K, Sznajder LJ, Cywoniuk P, Thomas JD, Swanson MS, Sobczak K.
Nucleic Acids Res. 2018 Jun 28. doi: 10.1093/nar/gky565. [Epub ahead of print]

Cancer Phenotype in Myotonic Dystrophy Patients: Results from a Meta-analysis.
Emparanza JI, de Munain AL, Greene MH, Matheu A, Fernández-Torrón R, Gadalla SM.
Muscle Nerve. 2018 Jul 20. doi: 10.1002/mus.26194. [Epub ahead of print]

Sonographic Similarities of Inclusion Body Myositis and Myotonic Dystrophy.
Karvelas KR, Hommel AL, Cartwright MS, Walker FO, Hobson-Webb LD.
Muscle Nerve. 2018 Jul 20. doi: 10.1002/mus.26181. [Epub ahead of print]

Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1.
Winkler NS, Milone M, Martinez-Thompson JM, Raja H, Aleff RA, Patel SV, Fautsch MP, Wieben ED, Baratz KH.
Invest Ophthalmol Vis Sci. 2018 Jun 1;59(7):3053-3057. doi: 10.1167/iovs.17-23160.

Myotonic Dystrophy Type 1.
Bird TD.
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Modeling of Myotonic Dystrophy Cardiac Phenotypes in Drosophila.
Chakraborty M, Llamusi B, Artero R.
Front Neurol. 2018 Jul 16;9:473. doi: 10.3389/fneur.2018.00473. eCollection 2018.

Methylphenidate Attenuates the Cognitive and Mood Alterations Observed in Mbnl2 Knockout Mice and Reduces Microglia Overexpression.
Ramon-Duaso C, Gener T, Consegal M, Fernández-Avilés C, Gallego JJ, Castarlenas L, Swanson MS, de la Torre R, Maldonado R, Puig MV, Robledo P.
Cereb Cortex. 2018 Jul 27. doi: 10.1093/cercor/bhy164. [Epub ahead of print]

Survival Patterns and Cancer Determinants in Families with Myotonic Dystrophy Type I.
Best A, Hilbert JE, Wood L, Martens WB, Nikolenko N, Marini-Bettolo C, Lochmüller H, Rosenberg PS, Moxley RT 3rd, Greene MH, Gadalla SM.
Eur J Neurol. 2018 Jul 27. doi: 10.1111/ene.13763. [Epub ahead of print]

Of Mice and Men: Advances in the Understanding of Neuromuscular Aspects of Myotonic Dystrophy.
Braz SO, Acquaire J, Gourdon G, Gomes-Pereira M.
Front Neurol. 2018 Jul 10;9:519. doi: 10.3389/fneur.2018.00519. eCollection 2018.

Towards clinical outcome measures in myotonic dystrophy type 2: a systematic review.
Rastelli E, Montagnese F, Massa R, Schoser B.
Curr Opin Neurol. 2018 Jul 25. doi: 10.1097/WCO.0000000000000591. [Epub ahead of print]

Cells of Matter-In Vitro Models for Myotonic Dystrophy.
Matloka M, Klein AF, Rau F, Furling D.
Front Neurol. 2018 May 23;9:361. doi: 10.3389/fneur.2018.00361. eCollection 2018. Review.

Myotonic dystrophy type 1: clinical manifestations in children and adolescents.
Ho G, Carey KA, Cardamone M, Farrar MA.
Arch Dis Child. 2018 Jun 5. pii: archdischild-2018-314837. doi: 10.1136/archdischild-2018-314837. [Epub ahead of print]

Relationships between Lower Limb Muscle Strength Impairments and Physical Limitations in DM1.
Petitclerc É, Hébert LJ, Mathieu J, Desrosiers J, Gagnon C.
J Neuromuscul Dis. 2018;5(2):215-224. doi: 10.3233/JND-170291.

Participation and the Role of Neuropsychological Functioning in Myotonic Dystrophy Type 1.
Van Heugten C, Meuleman S, Hellebrekers D, Kruitwagen-van Reenen E, Visser-Meily J.
J Neuromuscul Dis. 2018;5(2):205-214. doi: 10.3233/JND-170246.

Abnormalities in Skeletal Muscle Myogenesis, Growth, and Regeneration in Myotonic Dystrophy.
André LM, Ausems CRM, Wansink DG, Wieringa B.
Front Neurol. 2018 May 28;9:368. doi: 10.3389/fneur.2018.00368. eCollection 2018. Review.

Repeat-Associated Non-ATG Translation in Neurological Diseases.
Zu T, Pattamatta A, Ranum LPW.
Cold Spring Harb Perspect Biol. 2018 Jun 11. pii: a033019. doi: 10.1101/cshperspect.a033019. [Epub ahead of print]

Ankle Strength Impairments in Myotonic Dystrophy Type 1: A Five-Year Follow-up.
Hébert LJ, Vial C, Hogrel JY, Puymirat J.
J Neuromuscul Dis. 2018 Jun 4. doi: 10.3233/JND-180311. [Epub ahead of print]

Orofacial strength, dysarthria, and dysphagia in Congenital Myotonic Dystrophy.
Berggren KN, Hung M, Dixon MM, Bounsanga J, Crockett B, Foye MD, Gu Y, Campbell C, Butterfield RJ, Johnson NE.
Muscle Nerve. 2018 Jun 14. doi: 10.1002/mus.26176. [Epub ahead of print]

Recapitulating muscle disease phenotypes with myotonic dystrophy 1 iPS cells: a tool for disease modeling and drug discovery.
Mondragon-Gonzalez R, Perlingeiro RCR.
Dis Model Mech. 2018 Jun 13. pii: dmm.034728. doi: 10.1242/dmm.034728. [Epub ahead of print]

Myotonic dystrophy type 1: reasons to be OPTIMISTIC.
Gagnon C, Gallais B, Laberge L.
Lancet Neurol. 2018 Jun 18. pii: S1474-4422(18)30240-0. doi: 10.1016/S1474-4422(18)30240-0. [Epub ahead of print]

Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial.
Okkersen K, Jimenez-Moreno C, Wenninger S, Daidj F, Glennon J, Cumming S, Littleford R, Monckton DG, Lochmüller H, Catt M, Faber CG, Hapca A, Donnan PT, Gorman G, Bassez G, Schoser B, Knoop H, Treweek S, van Engelen BGM; OPTIMISTIC consortium.
Lancet Neurol. 2018 Jun 18. pii: S1474-4422(18)30203-5. doi: 10.1016/S1474-4422(18)30203-5. [Epub ahead of print]

Efficient CRISPR/Cas9-mediated editing of trinucleotide repeat expansion in myotonic dystrophy patient-derived iPS and myogenic cells.
Dastidar S, Ardui S, Singh K, Majumdar D, Nair N, Fu Y, Reyon D, Samara E, Gerli MFM, Klein AF, De Schrijver W, Tipanee J, Seneca S, Tulalamba W, Wang H, Chai YC, In't Veld P, Furling D, Tedesco FS, Vermeesch JR, Joung JK, Chuah MK, VandenDriessche T.
Nucleic Acids Res. 2018 Jun 27. doi: 10.1093/nar/gky548. [Epub ahead of print]

miR-23b and miR-218 silencing increase Muscleblind-like expression and alleviate myotonic dystrophy phenotypes in mammalian models.
Cerro-Herreros E, Sabater-Arcis M, Fernandez-Costa JM, Moreno N, Perez-Alonso M, Llamusi B, Artero R.
Nat Commun. 2018 Jun 26;9(1):2482. doi: 10.1038/s41467-018-04892-4.

Exercise Biology of Neuromuscular Disorders.
Ng SY, Manta A, Ljubicic V.
Appl Physiol Nutr Metab. 2018 Jun 26. doi: 10.1139/apnm-2018-0229. [Epub ahead of print]

AFM nano-mechanical study of the beating profile of hiPSC-derived cardiomyocytes beating bodies WT and DM1.
Dinarelli S, Girasole M, Spitalieri P, Talarico RV, Murdocca M, Botta A, Novelli G, Mango R, Sangiuolo F, Longo G.
J Mol Recognit. 2018 May 10:e2725. doi: 10.1002/jmr.2725. [Epub ahead of print]

Maternal Genetic Disorders in Pregnancy.
Harris S, Vora NL.
Obstet Gynecol Clin North Am. 2018 Jun;45(2):249-265. doi: 10.1016/j.ogc.2018.01.010. Review.

Affinity capillary electrophoresis for identification of active drug candidates in myotonic dystrophy type 1.
Neaga IO, Hambye S, Bodoki E, Palmieri C, Ansseau E, Belayew A, Oprean R, Blankert B.
Anal Bioanal Chem. 2018 May 8. doi: 10.1007/s00216-018-1107-6. [Epub ahead of print]

Reduction of Cellular Nucleic Acid Binding Protein encoded by a Myotonic Dystrophy type 2 gene causes muscle atrophy.
Wei C, Stock L, Schneider-Gold C, Sommer C, Timchenko NA, Timchenko L.
Mol Cell Biol. 2018 May 7. pii: MCB.00649-17. doi: 10.1128/MCB.00649-17. [Epub ahead of print]

Alternative splicing analysis in human monocytes and macrophages reveals MBNL1 as major regulator.
Liu H, Lorenzini PA, Zhang F, Xu S, Wong MSM, Zheng J, Roca X.
Nucleic Acids Res. 2018 May 16. doi: 10.1093/nar/gky401. [Epub ahead of print]

Mechanisms of skeletal muscle wasting in a mouse model for myotonic dystrophy type 1.
Morriss GR, Rajapakshe K, Huang S, Coarfa C, Cooper TA.
Hum Mol Genet. 2018 May 16. doi: 10.1093/hmg/ddy192. [Epub ahead of print]

Study of anti-Müllerian hormone levels in patients with Myotonic Dystrophy Type 1. Preliminary results.
Ergoli M, Venditti M, Dotolo R, Picillo E, Minucci S, Politano L.
Acta Myol. 2017 Dec 1;36(4):199-202. eCollection 2017 Dec.

Core Clinical Phenotypes in Myotonic Dystrophies.
Wenninger S, Montagnese F, Schoser B.
Front Neurol. 2018 May 2;9:303. doi: 10.3389/fneur.2018.00303. eCollection 2018. Review.

Small Molecules Which Improve Pathogenesis of Myotonic Dystrophy Type 1.
López-Morató M, Brook JD, Wojciechowska M.
Front Neurol. 2018 May 18;9:349. doi: 10.3389/fneur.2018.00349. eCollection 2018. Review.

A 9-year follow-up study of quantitative muscle strength changes in myotonic dystrophy type 1.
Gagnon C, Petitclerc É, Kierkegaard M, Mathieu J, Duchesne É, Hébert LJ.
J Neurol. 2018 May 21. doi: 10.1007/s00415-018-8898-4. [Epub ahead of print]

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences.
Sellier C, Cerro-Herreros E, Blatter M, Freyermuth F, Gaucherot A, Ruffenach F, Sarkar P, Puymirat J, Udd B, Day JW, Meola G, Bassez G, Fujimura H, Takahashi MP, Schoser B, Furling D, Artero R, Allain FHT, Llamusi B, Charlet-Berguerand N.
Nat Commun. 2018 May 22;9(1):2009. doi: 10.1038/s41467-018-04370-x.

Qualitative and Quantitative Aspects of Pain in Patients with Myotonic Dystrophy Type 2.
van Vliet J, Tieleman AA, Verrips A, Timmerman H, van Dongen RTM, van Engelen BGM, Wilder-Smith OHG.
J Pain. 2018 Mar 27. pii: S1526-5900(18)30117-2. doi: 10.1016/j.jpain.2018.03.006. [Epub ahead of print]

Daunorubicin reduces MBNL1 titration by expanded CUG repeat RNA and rescues cardiac dysfunctions in a Drosophila model of myotonic dystrophy.
Chakraborty M, Sellier C, Ney M, Villa P, Charlet-Berguerand N, Artero R, Llamusi B.
Dis Model Mech. 2018 Mar 21. pii: dmm.032557. doi: 10.1242/dmm.032557. [Epub ahead of print]

Rhythm Management in Myotonic Dystrophy: Progress but Unsettled Issues Remain.
Groh WJ.
Heart Rhythm. 2018 Apr 3. pii: S1547-5271(18)30335-7. doi: 10.1016/j.hrthm.2018.03.037. [Epub ahead of print]

Is going beyond Rasch analysis necessary to assess the construct validity of a motor function scale?
Guillot T, Roche S, Rippert P, Hamroun D, Iwaz J, Ecochard R, Vuillerot C; MFM study group.
Arch Phys Med Rehabil. 2018 Apr 3. pii: S0003-9993(18)30205-3. doi: 10.1016/j.apmr.2018.02.017. [Epub ahead of print]

Intron retention induced by microsatellite expansions as a disease biomarker.
Sznajder ŁJ, Thomas JD, Carrell EM, Reid T, McFarland KN, Cleary JD, Oliveira R, Nutter CA, Bhatt K, Sobczak K, Ashizawa T, Thornton CA, Ranum LPW, Swanson MS.
Proc Natl Acad Sci U S A. 2018 Apr 2. pii: 201716617. doi: 10.1073/pnas.1716617115. [Epub ahead of print]

Disruption of sleep-wake continuum in myotonic dystrophy type 1: Beyond conventional sleep staging.
Bonanni E, Carnicelli L, Crapanzano D, Maestri M, Simoncini C, Baldanzi S, Falorni M, Garbarino S, Mancuso M, Bonuccelli U, Siciliano G.
Neuromuscul Disord. 2018 Feb 12. pii: S0960-8966(17)31378-0. doi: 10.1016/j.nmd.2018.02.004. [Epub ahead of print]

Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy.
Wojciechowska M, Sobczak K, Kozlowski P, Sedehizadeh S, Wojtkowiak-Szlachcic A, Czubak K, Markus R, Lusakowska A, Kaminska A, Brook JD.
Sci Rep. 2018 Apr 12;8(1):5885. doi: 10.1038/s41598-018-24156-x.

Importance of three-dimensional speckle tracking in the assessment of left atrial and ventricular dysfunction in patients with myotonic dystrophy type 1.
Guedes H, Moreno N, Dos Santos RP, Marques L, Seabra D, Pereira A, Andrade A, Pinto P.
Rev Port Cardiol. 2018 Apr 9. pii: S0870-2551(17)30377-3. doi: 10.1016/j.repc.2017.10.011. [Epub ahead of print]

The MEF2 transcriptional target DMPK induces loss of sarcomere structure and cardiomyopathy.
Damanafshan A, Elzenaar I, Samson-Couterie B, van der Made I, Bourajjaj M, van den Hoogenhof MM, van Veen HA, Picavet DI, Beqqali A, Ehler E, De Windt LJ, Pinto YM, van Oort RJ.
Cardiovasc Res. 2018 Apr 10. doi: 10.1093/cvr/cvy091. [Epub ahead of print]

Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism.
Stéphanie T, Elodie D, Céline D, Alexis B, David G, Yann P; French Dm-Scope Consortium, Marie S, Jean-Paul B, Guillaume B, Geneviève G.
Hum Mutat. 2018 Apr 17. doi: 10.1002/humu.23531. [Epub ahead of print]

Repeat-Associated Non-ATG (RAN) Translation in Fuchs' Endothelial Corneal Dystrophy.
Soragni E, Petrosyan L, Rinkoski TA, Wieben ED, Baratz KH, Fautsch MP, Gottesfeld JM.
Invest Ophthalmol Vis Sci. 2018 Apr 1;59(5):1888-1896. doi: 10.1167/iovs.17-23265.

Myotonic Dystrophy and Developmental Regulation of RNA Processing.
Thomas JD, Oliveira R, Sznajder ŁJ, Swanson MS.
Compr Physiol. 2018 Mar 25;8(2):509-553. doi: 10.1002/cphy.c170002.

Accumulation of lipid peroxidation products in human myotonic dystrophic muscle.
Mishra SK, Menon NK, Mauldin C.
Neurol India. 1993 Apr-Jun;41(2):83-85.

Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2.
Rossi S, Romano A, Modoni A, Perna F, Rizzo V, Santoro M, Monforte M, Pieroni M, Luigetti M, Pomponi MG, Silvestri G.
Eur Neurol. 2018 Mar 13;79(3-4):166-170. doi: 10.1159/000487508. [Epub ahead of print]

The effect of dual chamber minimal ventricular pacing on paroxysmal atrial fibrillation incidence in Myotonic Dystrophy type 1 patients: a prospective, randomized, single-blind, crossover study.
Russo V, Papa AA, Rago A, Eng CC, Nigro G.
Heart Rhythm. 2018 Mar 7. pii: S1547-5271(18)30206-6. doi: 10.1016/j.hrthm.2018.03.008. [Epub ahead of print]

Mapping ligand binding pockets in ClC-1 channels through an integrated in silico and experimental approach using anthracene-9-carboxylic acid and niflumic acid.
Altamura C, Mangiatordi GF, Nicolotti O, Sahbani D, Farinato A, Leonetti F, Carratù MR, Conte D, Desaphy JF, Imbrici P.
Br J Pharmacol. 2018 Mar 3. doi: 10.1111/bph.14192. [Epub ahead of print]

Ubiquitination of MBNL1 Is Required for Its Cytoplasmic Localization and Function in Promoting Neurite Outgrowth.
Wang PY, Chang KT, Lin YM, Kuo TY, Wang GS.
Cell Rep. 2018 Feb 27;22(9):2294-2306. doi: 10.1016/j.celrep.2018.02.025.

Bachmann bundle pacing reduces atrial electromechanical delay in type 1 myotonic dystrophypatients.
Russo V, Rago A, Papa AA, Arena G, Politano L, Nigro G.
J Interv Card Electrophysiol. 2018 Feb 27. doi: 10.1007/s10840-018-0331-5. [Epub ahead of print]

Effect and impact of mechanical ventilation in myotonic dystrophy type 1: a prospective cohort study.
Boussaïd G, Prigent H, Laforet P, Raphaël JC, Annane D, Orlikowski D, Lofaso F.
Thorax. 2018 Mar 23. pii: thoraxjnl-2017-210610. doi: 10.1136/thoraxjnl-2017-210610. [Epub ahead of print]

The Role of AMPK in Neuromuscular Biology and Disease.
Dial AG, Ng SY, Manta A, Ljubicic V.
Trends Endocrinol Metab. 2018 Mar 20. pii: S1043-2760(18)30041-9. doi: 10.1016/j.tem.2018.02.010. [Epub ahead of print] Review.

Interatrial block to predict atrial fibrillation in myotonic dystrophy type 1.
Russo V, Papa AA, Rago A, Ciardiello C, Marano M, Proietti R, Politano L, Nigro G.
Neuromuscul Disord. 2018 Jan 31. pii: S0960-8966(17)31292-0. doi: 10.1016/j.nmd.2018.01.010. [Epub ahead of print]

Modelling the pathogenesis of Myotonic Dystrophy type 1 cardiac phenotype through human iPSC-derived cardiomyocytes.
Spitalieri P, Talarico RV, Caioli S, Murdocca M, Serafino A, Girasole M, Dinarelli S, Longo G, Pucci S, Botta A, Novelli G, Zona C, Mango R, Sangiuolo F.
J Mol Cell Cardiol. 2018 Mar 15. pii: S0022-2828(18)30083-X. doi: 10.1016/j.yjmcc.2018.03.012. [Epub ahead of print]

Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.
Sulek A, Krysa W, Rajkiewicz M, Lusakowska A, Kaminska A, Nojszewska M, Zdzienicka E, Kubalska J, Rakowicz M, Szirkowiec W, Kwiecinski H, Zaremba J.
Neurol Neurochir Pol. 2018 Mar 7. pii: S0028-3843(17)30336-5. doi: 10.1016/j.pjnns.2018.02.008. [Epub ahead of print]

Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1.
Wahbi K, Porcher R, Laforêt P, Fayssoil A, Bécane HM, Lazarus A, Sochala M, Stojkovic T, Béhin A, Leonard-Louis S, Arnaud P, Furling D, Probst V, Babuty D, Pellieux S, Clementy N, Bassez G, Péréon Y, Eymard B, Duboc D.
JAMA Neurol. 2018 Feb 5. doi: 10.1001/jamaneurol.2017.4778. [Epub ahead of print]

Genotype and other determinants of respiratory function in myotonic dystrophy type 1.
Boussaïd G, Wahbi K, Laforet P, Eymard B, Stojkovic T, Behin A, Djillali A, Orlikowski D, Prigent H, Lofaso F.
Neuromuscul Disord. 2017 Dec 26. pii: S0960-8966(17)30524-2. doi: 10.1016/j.nmd.2017.12.011. [Epub ahead of print]

The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities.
Wei Y, McCormick A, MacKenzie A, O'Ferrall E, Venance S, Mah JK, Selby K, McMillan HJ, Smith G, Oskoui M, Hogan G, McAdam L, Mabaya G, Hodgkinson V, Lounsberry J, Korngut L, Campbell C.
Paediatr Child Health. 2018 Feb;23(1):20-26. doi: 10.1093/pch/pxx125. Epub 2017 Dec 8.

Swallowing impairments in Amyotrophic Lateral Sclerosis and Myotonic Dystrophy type 1: Looking for the portrait of dysphagic patient in neuromuscular diseases.
Andrenelli E, Galli FL, Gesuita R, Skrami E, Logullo FO, Provinciali L, Capecci M, Ceravolo MG, Coccia M.
NeuroRehabilitation. 2018;42(1):93-102. doi: 10.3233/NRE-172272.

Increased EEG Theta Spectral Power in Sleep in Myotonic Dystrophy Type 1.
Cheung J, Ruoff C, Moore H, Hagerman KA, Perez J, Sakamuri S, Warby SC, Mignot E, Day J, Sampson J.
J Clin Sleep Med. 2018 Jan 30. pii: jc-17-00313. [Epub ahead of print]

Cross-sectional serum metabolomic study of multiple forms of muscular dystrophy.
Spitali P, Hettne K, Tsonaka R, Sabir E, Seyer A, Hemerik JBA, Goeman JJ, Picillo E, Ergoli M, Politano L, Aartsma-Rus A.
J Cell Mol Med. 2018 Feb 14. doi: 10.1111/jcmm.13543. [Epub ahead of print]

A 34-year longitudinal study on long-term cardiac outcomes in DM1 patients with normal ECG at baseline at an Italian clinical centre.
Bucci E, Testa M, Licchelli L, Frattari A, El Halabieh NA, Gabriele E, Pignatelli G, De Santis T, Fionda L, Vanoli F, Morino S, Garibaldi M, Di Pasquale A, Vanacore N, Botta A, Antonini G.
J Neurol. 2018 Feb 10. doi: 10.1007/s00415-018-8773-3. [Epub ahead of print]

Craniofacial morphology and growth in young patients with congenital or childhood onset myotonic dystrophy.
Fontinha C, Engvall M, Sjögreen L, Kiliaridis S.
Eur J Orthod. 2018 Feb 6. doi: 10.1093/ejo/cjx104. [Epub ahead of print]

TALEN-Induced Double-Strand Break Repair of CTG Trinucleotide Repeats.
Mosbach V, Poggi L, Viterbo D, Charpentier M, Richard GF.
Cell Rep. 2018 Feb 20;22(8):2146-2159. doi: 10.1016/j.celrep.2018.01.083.

Orexin/hypocretin levels in the cerebrospinal fluid and characteristics of patients with myotonic dystrophy type 1 with excessive daytime sleepiness.
Omori Y, Kanbayashi T, Imanishi A, Tsutsui K, Sagawa Y, Kikuchi YS, Takeshima M, Yoshizawa K, Uemura S, Shimizu T.
Neuropsychiatr Dis Treat. 2018 Feb 8;14:451-457. doi: 10.2147/NDT.S158651. eCollection 2018.

An engineered RNA binding protein with improved splicing regulation.
Hale MA, Richardson JI, Day RC, McConnell OL, Arboleda J, Wang ET, Berglund JA.
Nucleic Acids Res. 2018 Jan 4. doi: 10.1093/nar/gkx1304. [Epub ahead of print]

Altered levels of the splicing factor muscleblind modifies cerebral cortical function in mouse models of myotonic dystrophy.
Chen G, Carter RE, Cleary JD, Reid TS, Ranum LP, Swanson MS, Ebner TJ.
Neurobiol Dis. 2018 Jan 10. pii: S0969-9961(18)30003-2. doi: 10.1016/j.nbd.2018.01.003. [Epub ahead of print]

Childhood-onset form of myotonic dystrophy type 1 and autism spectrum disorder: Is there comorbidity?
Angeard N, Huerta E, Jacquette A, Cohen D, Xavier J, Gargiulo M, Servais L, Eymard B, Héron D.
Neuromuscul Disord. 2017 Dec 15. pii: S0960-8966(17)31337-8. doi: 10.1016/j.nmd.2017.12.006. [Epub ahead of print]

The Frequency and Risk Factors for Ischemic Stroke in Myotonic Dystrophy Type 1 Patients.
Yoshida K, Aburakawa Y, Suzuki Y, Kuroda K, Kimura T.
J Stroke Cerebrovasc Dis. 2018 Jan 3. pii: S1052-3057(17)30592-X. doi: 10.1016/j.jstrokecerebrovasdis.2017.10.030. [Epub ahead of print]

Relationships between grip strength, myotonia, and CTG expansion in myotonic dystrophy type 1.
Hogrel JY, Ollivier G, Ledoux I, Hébert LJ, Eymard B, Puymirat J, Bassez G.
Ann Clin Transl Neurol. 2017 Nov 7;4(12):921-925. doi: 10.1002/acn3.496. eCollection 2017 Dec.

Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients.
Santoro M, Fontana L, Maiorca F, Centofanti F, Massa R, Silvestri G, Novelli G, Botta A.
Biochim Biophys Acta. 2017 Dec 29;1864(3):917-924. doi: 10.1016/j.bbadis.2017.12.037. [Epub ahead of print]

Mitochondrial dysfunction in myotonic dystrophy type 1.
Gramegna LL, Giannoccaro MP, Manners DN, Testa C, Zanigni S, Evangelisti S, Bianchini C, Oppi F, Poda R, Avoni P, Lodi R, Liguori R, Tonon C.
Neuromuscul Disord. 2017 Nov 14. pii: S0960-8966(17)30211-0. doi: 10.1016/j.nmd.2017.10.007. [Epub ahead of print]

Reliability of the Apathy Evaluation Scale in Myotonic Dystrophy Type 1.
Gallais B.
J Neuromuscul Dis. 2017 Dec 20. doi: 10.3233/JND-170274. [Epub ahead of print]

Selective alkylation of T-T mismatched DNA using vinyldiaminotriazine-acridine conjugate.
Onizuka K, Usami A, Yamaoki Y, Kobayashi T, Hazemi ME, Chikuni T, Sato N, Sasaki K, Katahira M, Nagatsugi F.
Nucleic Acids Res. 2018 Jan 4. doi: 10.1093/nar/gkx1278. [Epub ahead of print]

An engineered RNA binding protein with improved splicing regulation.
Hale MA, Richardson JI, Day RC, McConnell OL, Arboleda J, Wang ET, Berglund JA.
Nucleic Acids Res. 2018 Jan 4. doi: 10.1093/nar/gkx1304. [Epub ahead of print]

Design of 'Mini' Nucleic Acid Probe for Cooperative Binding of RNA-Repeated Transcript Associated with Myotonic Dystrophy Type 1.
Hsieh WC, Bahal R, Thadke S, Bhatt K, Sobczak K, Thornton CA, Ly DH.
Biochemistry. 2018 Jan 15. doi: 10.1021/acs.biochem.7b01239. [Epub ahead of print]

Altered levels of the splicing factor muscleblind modifies cerebral cortical function in mouse models of myotonic dystrophy.
Chen G, Carter RE, Cleary JD, Reid TS, Ranum LP, Swanson MS, Ebner TJ.
Neurobiol Dis. 2018 Jan 10. pii: S0969-9961(18)30003-2. doi: 10.1016/j.nbd.2018.01.003. [Epub ahead of print]

Myotonic Dystrophy Patient Preferences in Patient-Reported Outcome Measures.
Heatwole C, Johnson N, Dekdebrun J, Dilek N, Eichinger K, Hilbert J, Luebbe E, Martens W, McDermott MP, Thornton C, Moxley R.
Muscle Nerve. 2018 Jan 12. doi: 10.1002/mus.26066. [Epub ahead of print]

Speech characteristics in the congenital and childhood-onset forms of myotonic dystrophy type 1.
Sjögreen L, Mårtensson Å, Ekström AB.
Int J Lang Commun Disord. 2018 Jan 12. doi: 10.1111/1460-6984.12370. [Epub ahead of print]

R-loops: targets for nuclease cleavage and repeat instability.
Freudenreich CH.
Curr Genet. 2018 Jan 11. doi: 10.1007/s00294-018-0806-z. [Epub ahead of print] Review.

Repeat expansion diseases.
Paulson H.
Handb Clin Neurol. 2018;147:105-123. doi: 10.1016/B978-0-444-63233-3.00009-9.

RNA-Templated Concatenation of Triplet Nucleic Acid Probe.
Ly DH, Bahal R, Manna A, Hsieh WC, Thadke SA, Sureshkumar G.
Chembiochem. 2018 Jan 11. doi: 10.1002/cbic.201700574. [Epub ahead of print]

Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients.
Fernández RM, Lozano-Arana MD, Sánchez B, Peciña A, García-Lozano JC, Borrego S, Antiñolo G.
Biomed Res Int. 2017;2017:9165363. doi: 10.1155/2017/9165363. Epub 2017 Nov 14.

A More Efficient Transportable and Scalable System for Real-Time Activities and Exercises Recognition.
Chapron K, Plantevin V, Thullier F, Bouchard K, Duchesne E, Gaboury S.
Sensors (Basel). 2018 Jan 18;18(1). pii: E268. doi: 10.3390/s18010268.

Altered power spectral density in the resting-state sensorimotor network in patients with myotonic dystrophy type 1.
Park JS, Seo J, Cha H, Song HJ, Lee SH, Jang KE, Lee HJ, Park J, Lee HW, Chang Y.
Sci Rep. 2018 Jan 17;8(1):987. doi: 10.1038/s41598-018-19217-0.

Hearing impairment in patients with myotonic dystrophy type 2.
van Vliet J, Tieleman AA, van Engelen BGM, Bassez G, Servais L, Béhin A, Stojkovic T, Meulstee J, Engel JAM, Lamas G, Eymard B, Verhagen WIM, Mamelle E.
Neurology. 2018 Jan 17. pii: 10.1212/WNL.0000000000004963. doi: 10.1212/WNL.0000000000004963. [Epub ahead of print]

Macroscopic and microscopic diversity of missplicing in the central nervous system of patients with myotonic dystrophy type 1.
Furuta M, Kimura T, Nakamori M, Matsumura T, Fujimura H, Jinnai K, Takahashi MP, Mochizuki H, Yoshikawa H.
Neuroreport. 2018 Feb 7;29(3):235-240. doi: 10.1097/WNR.0000000000000968.

Dual Action of Mexiletine and Its Pyrroline Derivatives as Skeletal Muscle Sodium Channel Blockers and Anti-oxidant Compounds: Toward Novel Therapeutic Potential.
De Bellis M, Sanarica F, Carocci A, Lentini G, Pierno S, Rolland JF, Conte Camerino D, De Luca A.
Front Pharmacol. 2018 Jan 12;8:907. doi: 10.3389/fphar.2017.00907. eCollection 2017.

2017

Childhood-onset form of myotonic dystrophy type 1 and autism spectrum disorder: Is there comorbidity?
Angeard N, Huerta E, Jacquette A, Cohen D, Xavier J, Gargiulo M, Servais L, Eymard B, Héron D.
Neuromuscul Disord. 2017 Dec 15. pii: S0960-8966(17)31337-8. doi: 10.1016/j.nmd.2017.12.006. [Epub ahead of print]

Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective survey.
Jiménez-Moreno AC, Raaphorst J, Babačić H, Wood L, van Engelen B, Lochmüller H, Schoser B, Wenninger S.
Neuromuscul Disord. 2017 Dec 27. pii: S0960-8966(17)31403-7. doi: 10.1016/j.nmd.2017.12.010. [Epub ahead of print]

Anesthetic Management for Multiple Family Members with Myotonic Dystrophy for Interventional Cardiac Procedures-A Case Series.
Gorelik L, Flores A.
Front Med (Lausanne). 2018 Jan 8;4:243. doi: 10.3389/fmed.2017.00243. eCollection 2017.

Responsiveness of performance-based outcome measures for mobility, balance, muscle strength and manual dexterity in adults with myotonic dystrophy type 1.
Kierkegaard M, Petitclerc É, Hébert LJ, Mathieu J, Gagnon C.
J Rehabil Med. 2017 Dec 20. doi: 10.2340/16501977-2304. [Epub ahead of print]

Correction of GSK3β at young age prevents muscle pathology in mice with myotonic dystrophytype 1.
Wei C, Stock L, Valanejad L, Zalewski ZA, Karns R, Puymirat J, Nelson D, Witte D, Woodgett J, Timchenko NA, Timchenko L.
FASEB J. 2017 Dec 4. pii: fj.201700700R. doi: 10.1096/fj.201700700R. [Epub ahead of print]

Hybrid splicing minigene and antisense oligonucleotides as efficient tools to determine functional protein/RNA interactions.
Cywoniuk P, Taylor K, Sznajder ŁJ, Sobczak K.
Sci Rep. 2017 Dec 14;7(1):17587. doi: 10.1038/s41598-017-17816-x.

CRISPR/Cas9-Mediated Deletion of CTG Expansions Recovers Normal Phenotype in Myogenic Cells Derived from Myotonic Dystrophy 1 Patients.
Provenzano C, Cappella M, Valaperta R, Cardani R, Meola G, Martelli F, Cardinali B, Falcone G.
Mol Ther Nucleic Acids. 2017 Dec 15;9:337-348. doi: 10.1016/j.omtn.2017.10.006. Epub 2017 Oct 14.

Lymphoblastoids cell lines - Derived iPSC line from a 26-year-old myotonic dystrophy type 1 patient carrying (CTG)₂₀₀ expansion in the DMPK gene: CHUQi001-A.
Martineau L, Racine V, Benichou SA, Puymirat J.
Stem Cell Res. 2017 Dec 16;26:103-106. doi: 10.1016/j.scr.2017.12.010. [Epub ahead of print]

Minimizing carry-over PCR contamination in expanded CAG/CTG repeat instability applications.
Aeschbach L, Dion V.
Sci Rep. 2017 Dec 21;7(1):18026. doi: 10.1038/s41598-017-18168-2.

The competing mini-dumbbell mechanism: new insights into CCTG repeat expansion.
Guo P, Lam SL.
Signal Transduct Target Ther. 2016 Dec 2;1:16028. doi: 10.1038/sigtrans.2016.28. eCollection 2016.

The relative frequency of common neuromuscular diagnoses in a reference center.
Cotta A, Paim JF, Carvalho E, da-Cunha-Júnior AL, Navarro MM, Valicek J, Menezes MM, Nunes SV, Xavier-Neto R, Baptista S Junior, Lima LR, Takata RI, Vargas AP.
Arq Neuropsiquiatr. 2017 Nov;75(11):789-795. doi: 10.1590/0004-282X20170151.

Cardiac involvement in myotonic dystrophy: The role of troponins and N-terminal pro B-type natriuretic peptide.
Valaperta R, De Siena C, Cardani R, Lombardia F, Cenko E, Rampoldi B, Fossati B, Brigonzi E, Rigolini R, Gaia P, Meola G, Costa E, Bugiardini R.
Atherosclerosis. 2017 Oct 21;267:110-115. doi: 10.1016/j.atherosclerosis.2017.10.020. [Epub ahead of print]
 
Risk of skin cancer among patients with myotonic dystrophy type 1 based on Primary care physician data from the United Kingdom Clinical Practice Research Datalink.
Wang Y, Pfeiffer RM, Alsaggaf R, Meeraus W, Gage JC, Anderson LA, Bremer RC, Nikolenko N, Lochmuller H, Greene MH, Gadalla SM.
Int J Cancer. 2017 Nov 7. doi: 10.1002/ijc.31143. [Epub ahead of print]
 
Cardiac autonomic control during sleep in patients with myotonic dystrophy type 1: the effects of comorbid obstructive sleep apnea.
Tobaldini E, Colombo G, Solbiati M, Cogliati C, Morandi L, Pincherle A, Montano N.
Sleep Med. 2017 Nov;39:32-37. doi: 10.1016/j.sleep.2017.07.023.

Nanopore sequencing of complex genomic rearrangements in yeast reveals mechanisms of repeat-mediated double-strand break repair.
McGinty RJ, Rubinstein RG, Neil AJ, Dominska M, Kiktev D, Petes TD, Mirkin SM.
Genome Res. 2017 Nov 7. pii: gr.228148.117. doi: 10.1101/gr.228148.117. [Epub ahead of print]

Cognitive impairment and quality of life in patients with myotonic dystrophy type 1.
Fujino H, Shingaki H, Suwazono S, Ueda Y, Wada C, Nakayama T, Takahashi MP, Imura O, Matsumura T.
Muscle Nerve. 2017 Nov 28. doi: 10.1002/mus.26022. [Epub ahead of print]

Imaging of the thymus in myotonic dystrophy type 1.
Mignarri A, Gentili F, Masia F, Genua A, Cenciarelli S, Brunori P, Mazzei MA, Malandrini A, Federico A, Mazzei FG, Dotti MT.
Neurol Sci. 2017 Nov 25. doi: 10.1007/s10072-017-3202-4. [Epub ahead of print]

Impeding Transcription of Expanded Microsatellite Repeats by Deactivated Cas9.
Pinto BS, Saxena T, Oliveira R, Méndez-Gómez HR, Cleary JD, Denes LT, McConnell O, Arboleda J, Xia G, Swanson MS, Wang ET.
Mol Cell. 2017 Oct 18. pii: S1097-2765(17)30711-6. doi: 10.1016/j.molcel.2017.09.033. [Epub ahead of print]

Aberrant Myokine Signaling in Congenital Myotonic Dystrophy.
Nakamori M, Hamanaka K, Thomas JD, Wang ET, Hayashi YK, Takahashi MP, Swanson MS, Nishino I, Mochizuki H.
Cell Rep. 2017 Oct 31;21(5):1240-1252. doi: 10.1016/j.celrep.2017.10.018.

Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2.
Montagnese F, Mondello S, Wenninger S, Kress W, Schoser B.
J Neurol. 2017 Oct 30. doi: 10.1007/s00415-017-8653-2. [Epub ahead of print]

Genome engineering: a new approach to gene therapy for neuromuscular disorders.
Nelson CE, Robinson-Hamm JN, Gersbach CA.
Nat Rev Neurol. 2017 Sep 29. doi: 10.1038/nrneurol.2017.126. [Epub ahead of print] 

MBNL expression in autoregulatory feedback loops.
Konieczny P, Stepniak-Konieczna E, Sobczak K.
RNA Biol. 2017 Sep 26:0. doi: 10.1080/15476286.2017.1384119. [Epub ahead of print]

Genetic testing of individuals with pre-senile cataract identifies patients with myotonic dystrophytype 2.
Rakočević-Stojanović V, Perić S, Pešović J, Senćanić I, Božić M, Šviković S, Brkušanin M, Savić-Pavićević D.
Eur J Neurol. 2017 Nov;24(11):e79-e80. doi: 10.1111/ene.13401.

Reduced renal function in patients with Myotonic Dystrophy type 1 and the association to CTG expansion and other potential risk factors for chronic kidney disease.
Aldenbratt A, Lindberg C, Svensson MK.
Neuromuscul Disord. 2017 Aug 15. pii: S0960-8966(17)30212-2. doi: 10.1016/j.nmd.2017.08.002. [Epub ahead of print]

Detection of expanded RNA repeats using thermostable group II intron reverse transcriptase.
Carrell ST, Tang Z, Mohr S, Lambowitz AM, Thornton CA.
Nucleic Acids Res. 2017 Oct 3. doi: 10.1093/nar/gkx867. [Epub ahead of print]

Origin of the myotonic dystrophy type 1 mutation in Mexican population and influence of Amerindian ancestry on CTG repeat allelic distribution.
Murillo-Melo NM, Márquez-Quiróz LC, Gómez R, Orozco L, Mendoza-Caamal E, Tapia-Guerrero YS, Camacho-Mejorado R, Cortés H, López-Reyes A, Santana C, Noris G, Hernández-Hernández O, Cisneros B, Magaña JJ.
Neuromuscul Disord. 2017 Sep 21. pii: S0960-8966(16)31076-8. doi: 10.1016/j.nmd.2017.09.004. [Epub ahead of print]

French translation and cross-cultural adaptation of the Myotonic Dystrophy Health Index (MDHI).
Gagnon C, Tremblay M, Côté I, Heatwole C.
Muscle Nerve. 2017 Oct 20. doi: 10.1002/mus.25994. [Epub ahead of print]

Measuring Dynamic Behavior of Trinucleotide Repeat Tracts In Vivo in Saccharomyces cerevisiae.
Williams GM, Surtees JA.
Methods Mol Biol. 2018;1672:439-470. doi: 10.1007/978-1-4939-7306-4_30.

Small molecule alteration of RNA sequence in cells and animals.
Guan L, Luo Y, Ja WW, Disney MD.
Bioorg Med Chem Lett. 2017 Oct 18. pii: S0960-894X(17)31018-1. doi: 10.1016/j.bmcl.2017.10.034. [Epub ahead of print]

Lower limb muscle magnetic resonance imaging in myotonic dystrophy type 1 correlates with the six-minute walk test and CTG repeats.
Park D, Lee SH, Shin JH, Park JS.
Neuromuscul Disord. 2017 Aug 24. pii: S0960-8966(17)30350-4. doi: 10.1016/j.nmd.2017.08.005. [Epub ahead of print]

Brain gray matter structural network in myotonic dystrophy type 1.
Sugiyama A, Sone D, Sato N, Kimura Y, Ota M, Maikusa N, Maekawa T, Enokizono M, Mori-Yoshimura M, Ohya Y, Kuwabara S, Matsuda H.
PLoS One. 2017 Nov 2;12(11):e0187343. doi: 10.1371/journal.pone.0187343. eCollection 2017.

RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2.
Zu T, Cleary JD, Liu Y, Bañez-Coronel M, Bubenik JL, Ayhan F, Ashizawa T, Xia G, Clark HB, Yachnis AT, Swanson MS, Ranum LPW.
Neuron. 2017 Sep 13;95(6):1292-1305.e5. doi: 10.1016/j.neuron.2017.08.039.
 
The cognitive profile of myotonic dystrophy type 1: A systematic review and meta-analysis.
Okkersen K, Buskes M, Groenewoud J, Kessels RPC, Knoop H, van Engelen B, Raaphorst J.
Cortex. 2017 Aug 16;95:143-155. doi: 10.1016/j.cortex.2017.08.008. [Epub ahead of print] Review.
 
Receptor and post-receptor abnormalities contribute to insulin resistance in myotonic dystrophy type 1 and type 2 skeletal muscle.
Renna LV, Bosè F, Iachettini S, Fossati B, Saraceno L, Milani V, Colombo R, Meola G, Cardani R.
PLoS One. 2017 Sep 15;12(9):e0184987. doi: 10.1371/journal.pone.0184987. 

Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy.
Mootha VV, Hansen B, Rong Z, Mammen PP, Zhou Z, Xing C, Gong X.
Invest Ophthalmol Vis Sci. 2017 Sep 1;58(11):4579-4585. doi: 10.1167/iovs.17-22350.

The Myotonic Dystrophy Health Index: Italian validation of a disease-specific outcome measure.
Sansone VA, Lizio A, Greco L, Gragnano G, Zanolini A, Gualandris M, Iatomasi M, Heatwole C.
Neuromuscul Disord. 2017 Jul 10. pii: S0960-8966(17)30384-X. doi: 10.1016/j.nmd.2017.07.004. [Epub ahead of print]

Sarcolemmal excitability in the myotonic dystrophies.
Boland-Freitas R, Lee J, Howells J, Liang C, Corbett A, Nicholson G, Ng K.
Muscle Nerve. 2017 Sep 7. doi: 10.1002/mus.25962. [Epub ahead of print]

Global muscular dystrophy research: A 25-year bibliometric perspective.
Ram S.
Neurol India. 2017 Sep-Oct;65(5):993-1000. doi: 10.4103/neuroindia.NI_1241_16. Review.

CELF1 Mediates Connexin 43 mRNA Degradation in Dilated Cardiomyopathy.
Chang KT, Cheng CF, King PC, Liu SY, Wang GS.
Circ Res. 2017 Sep 5. pii: CIRCRESAHA.117.311281. doi: 10.1161/CIRCRESAHA.117.311281. [Epub ahead of print]

Palliative care in neuromuscular diseases.
de Visser M, Oliver DJ.
Curr Opin Neurol. 2017 Sep 13. doi: 10.1097/WCO.0000000000000493. [Epub ahead of print]

Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions.
Pešović J, Perić S, Brkušanin M, Brajušković G, Rakočević-Stojanović V, Savić-Pavićević D.
Neurogenetics. 2017 Sep 23. doi: 10.1007/s10048-017-0523-7. [Epub ahead of print]

Brain imaging in myotonic dystrophy type 1: A systematic review.
Okkersen K, Monckton DG, Le N, Tuladhar AM, Raaphorst J, van Engelen BGM.
Neurology. 2017 Aug 2. pii: 10.1212/WNL.0000000000004300. doi: 10.1212/WNL.0000000000004300. [Epub ahead of print] Review.

High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2.
Hilbert JE, Barohn RJ, Clemens PR, Luebbe EA, Martens WB, McDermott MP, Parkhill AL, Tawil R, Thornton CA, Moxley RT 3rd; National Registry Scientific Advisory Committee/Investigators.
Neurology. 2017 Aug 30. pii: 10.1212/WNL.0000000000004420. doi: 10.1212/WNL.0000000000004420. [Epub ahead of print]

Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study.
Baldanzi S, Bevilacqua F, Lorio R, Volpi L, Simoncini C, Petrucci A, Cosottini M, Massimetti G, Tognoni G, Ricci G, Angelini C, Siciliano G.
Orphanet J Rare Dis. 2016 Apr 4;11:34. doi: 10.1186/s13023-016-0417-z.

Elimination of Toxic Microsatellite Repeat Expansion RNA by RNA-Targeting Cas9.
Batra R, Nelles DA, Pirie E, Blue SM, Marina RJ, Wang H, Chaim IA, Thomas JD, Zhang N, Nguyen V, Aigner S, Markmiller S, Xia G, Corbett KD, Swanson MS, Yeo GW.
Cell. 2017 Aug 8. pii: S0092-8674(17)30817-6. doi: 10.1016/j.cell.2017.07.010. [Epub ahead of print]

Magnetic resonance imaging of leg muscles in patients with myotonic dystrophies.
Peric S, Maksimovic R, Banko B, Durdic M, Bjelica B, Bozovic I, Balcik Y, Pesovic J, Savic-Pavicevic D, Rakocevic-Stojanovic V.
J Neurol. 2017 Jul 29. doi: 10.1007/s00415-017-8574-0. [Epub ahead of print]

Myotonic dystrophy: candidate small molecule therapeutics.
Konieczny P, Selma-Soriano E, Rapisarda AS, Fernandez-Costa JM, Perez-Alonso M, Artero R.
Drug Discov Today. 2017 Aug 2. pii: S1359-6446(17)30132-0. doi: 10.1016/j.drudis.2017.07.011. [Epub ahead of print]

Myotonic Dystrophy Type 1 Clinical, Electrophysiological and Molecular Characterization: Experience at Tertiary Care Centre.
Khadilkar S, Jagiasi K, Yadav J, Chavan SV, Soni G, Patel B.
J Assoc Physicians India. 2017 Jun;65(6):32-37.

Clinical characteristics of pregnancies complicated by congenital myotonic dystrophy.
Yee C, Choi SJ, Oh SY, Ki CS, Roh CR, Kim JH.
Obstet Gynecol Sci. 2017 Jul;60(4):323-328. doi: 10.5468/ogs.2017.60.4.323. Epub 2017 Jul 14.

Evolving Motivations: Patients' and Caregivers' Perceptions About Seeking Myotonic Dystrophy (DM1) and Huntington's Disease Care.
LaDonna KA, Watling CJ, Ray SL, Piechowicz C, Venance SL.
Qual Health Res. 2017 Sep;27(11):1727-1737. doi: 10.1177/1049732317711901. Epub 2017 Jun 19.

BNA^NC gapmers revert splicing and reduce RNA foci with low toxicity in myotonic dystrophy cells.
Manning KS, Rao AN, Castro M, Cooper TA.
ACS Chem Biol. 2017 Aug 30. doi: 10.1021/acschembio.7b00416. [Epub ahead of print]

RNA biology of disease-associated microsatellite repeat expansions.
Rohilla KJ, Gagnon KT.
Acta Neuropathol Commun. 2017 Aug 29;5(1):63. doi: 10.1186/s40478-017-0468-y.

Elimination of Toxic Microsatellite Repeat Expansion RNA by RNA-Targeting Cas9.
Batra R, Nelles DA, Pirie E, Blue SM, Marina RJ, Wang H, Chaim IA, Thomas JD, Zhang N, Nguyen V, Aigner S, Markmiller S, Xia G, Corbett KD, Swanson MS, Yeo GW.
Cell. 2017 Aug 8. pii: S0092-8674(17)30817-6. doi: 10.1016/j.cell.2017.07.010. [Epub ahead of print]

Magnetic resonance imaging of leg muscles in patients with myotonic dystrophies.
Peric S, Maksimovic R, Banko B, Durdic M, Bjelica B, Bozovic I, Balcik Y, Pesovic J, Savic-Pavicevic D, Rakocevic-Stojanovic V.
J Neurol. 2017 Jul 29. doi: 10.1007/s00415-017-8574-0. [Epub ahead of print]

Myotonic dystrophy: candidate small molecule therapeutics.
Konieczny P, Selma-Soriano E, Rapisarda AS, Fernandez-Costa JM, Perez-Alonso M, Artero R.
Drug Discov Today. 2017 Aug 2. pii: S1359-6446(17)30132-0. doi: 10.1016/j.drudis.2017.07.011. [Epub ahead of print]

Myotonic Dystrophy Type 1 Clinical, Electrophysiological and Molecular Characterization: Experience at Tertiary Care Centre.
Khadilkar S, Jagiasi K, Yadav J, Chavan SV, Soni G, Patel B.
J Assoc Physicians India. 2017 Jun;65(6):32-37.

Clinical characteristics of pregnancies complicated by congenital myotonic dystrophy.
Yee C, Choi SJ, Oh SY, Ki CS, Roh CR, Kim JH.
Obstet Gynecol Sci. 2017 Jul;60(4):323-328. doi: 10.5468/ogs.2017.60.4.323. Epub 2017 Jul 14.

Evolving Motivations: Patients' and Caregivers' Perceptions About Seeking Myotonic Dystrophy (DM1) and Huntington's Disease Care.
LaDonna KA, Watling CJ, Ray SL, Piechowicz C, Venance SL.
Qual Health Res. 2017 Sep;27(11):1727-1737. doi: 10.1177/1049732317711901. Epub 2017 Jun 19.

BNANC gapmers revert splicing and reduce RNA foci with low toxicity in myotonic dystrophy cells.
Manning KS, Rao AN, Castro M, Cooper TA.ACS
Chem Biol. 2017 Aug 30. doi: 10.1021/acschembio.7b00416. [Epub ahead of print]

RNA biology of disease-associated microsatellite repeat expansions.
Rohilla KJ, Gagnon KT.Acta
Neuropathol Commun. 2017 Aug 29;5(1):63. doi: 10.1186/s40478-017-0468-y.

Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy.
Thomas JD, Sznajder LJ, Bardhi O, Aslam FN, Anastasiadis ZP, Scotti MM, Nishino I, Nakamori M, Wang ET, Swanson MS.
Genes Dev. 2017 Jul 11. doi: 10.1101/gad.300590.117. [Epub ahead of print]

The proposal of a clinical protocol to assess central and peripheral fatigue in myotonic dystrophy type 1.
Baldanzi S, Ricci G, Bottari M, Chico L, Simoncini C, Siciliano G.
Arch Ital Biol. 2017 Jul 1;155(1-2):43-54. doi: 10.12871/000398292017125.

Cutaneous manifestations in Steinert’s disease. Apropos of four clinical cases.
Cona F, Lotti J, Fioranelli M, Roccia MG, Lotti T, Guarneri C.
J Biol Regul Homeost Agents. 2017 Jul 13;31(2 Suppl. 2). [Epub ahead of print]

Personality traits in patients with myotonic dystrophy type 2.
Paunic T, Peric S, Parojcic A, Savic-Pavicevic D, Vujnic M, Pesovic J, Basta I, Lavrnic D, Rakocevic-Stojanovic V.
Acta Myol. 2017 Mar;36(1):14-18.

Investigation of the molecular mechanisms underlying myotonic dystrophy types 1 and 2 cataracts using microRNA target gene networks.
Shao D, Zhu X, Sun W, Huo L, Chen W, Wang H, Liu B, Pan P.
Mol Med Rep. 2017 Jul 21. doi: 10.3892/mmr.2017.7059. [Epub ahead of print]

Structural basis for interaction of the tandem zinc finger domains of human muscleblind with cognate RNA from human cardiac troponin T.
Park S, Phukan PD, Zeeb M, Martinez-Yamout MA, Dyson HJ, Wright PE.
Biochemistry. 2017 Jul 18. doi: 10.1021/acs.biochem.7b00484. [Epub ahead of print]

Congenital myotonic dystrophy-an RNA-mediated disease across a developmental continuum.
Jagannathan S, Bradley RK.
Genes Dev. 2017 Jun 1;31(11):1067-1068. doi: 10.1101/gad.302893.117.

Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice.
Jauvin D, Chrétien J, Pandey SK, Martineau L, Revillod L, Bassez G, Lachon A, McLeod AR, Gourdon G, Wheeler TM, Thornton CA, Bennett CF, Puymirat J.
Mol Ther Nucleic Acids. 2017 Jun 16;7:465-474. doi: 10.1016/j.omtn.2017.05.007. Epub 2017 May 17.

Expanded CCUG repeat RNA expression in Drosophila heart and muscle trigger Myotonic Dystrophy type 1-like phenotypes and activate autophagocytosis genes.
Cerro-Herreros E, Chakraborty M, Pérez-Alonso M, Artero R, Llamusí B.
Sci Rep. 2017 Jun 6;7(1):2843. doi: 10.1038/s41598-017-02829-3.

Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1: An Analysis of the DM1-Heart Registry.
Chong-Nguyen C, Wahbi K, Algalarrondo V, Bécane HM, Radvanyi-Hoffman H, Arnaud P, Furling D, Lazarus A, Bassez G, Béhin A, Fayssoil A, Laforêt P, Stojkovic T, Eymard B, Duboc D.
Circ Cardiovasc Genet. 2017 Jun;10(3). pii: e001526. doi: 10.1161/CIRCGENETICS.116.001526.

In silico discovery of substituted pyrido[2,3-d]pyrimidines and pentamidine-like compounds with biological activity in myotonic dystrophy models.
González ÀL, Konieczny P, Llamusi B, Delgado-Pinar E, Borrell JI, Teixidó J, García-España E, Pérez-Alonso M, Estrada-Tejedor R, Artero R.
PLoS One. 2017 Jun 5;12(6):e0178931. doi: 10.1371/journal.pone.0178931.

Brain positron emission tomography in patients with myotonic dystrophy type 1 and type 2.
Peric S, Brajkovic L, Belanovic B, Ilic V, Salak-Djokic B, Basta I, Rakocevic Stojanovic V.
J Neurol Sci. 2017 Jul 15;378:187-192. doi: 10.1016/j.jns.2017.05.013. Epub 2017 May 10.

Noninvasive assessment of respiratory muscle strength and activity in Myotonic dystrophy.
Evangelista MA, Dias FAL, Dourado Júnior MET, do Nascimento GC, Sarmento A, Gualdi LP, Aliverti A, Resqueti V, Fregonezi GAF.
PLoS One. 2017 Jun 8;12(6):e0177318. doi: 10.1371/journal.pone.0177318.

Risk for Complications after Pacemaker or Cardioverter Defibrillator Implantations in Patients with Myotonic Dystrophy Type 1.
Sochala M, Wahbi K, Sorbets E, Lazarus A, Bécane HM, Stojkovic T, Fayssoil A, Laforêt P, Béhin A, Sroussi M, Eymard B, Duboc D, Meune C.
J Neuromuscul Dis. 2017 Jun 6. doi: 10.3233/JND-170232. [Epub ahead of print]

Routine echocardiography in patients with myotonic dystrophy type 1.
Paunic T, Peric S, Cvitan E, Raspopovic S, Peric M, Mandic Stojmenovic G, Rakocevic Stojanovic V.
J Chin Med Assoc. 2017 Jun 7. pii: S1726-4901(17)30104-1. doi: 10.1016/j.jcma.2017.04.004. [Epub ahead of print]

Temporomandibular dysfunction in adult patients with myotonic dystrophy (DM1).
Mejersjö C, Kiliaridis S.
J Oral Rehabil. 2017 Jun 10. doi: 10.1111/joor.12534. [Epub ahead of print]

(CCUG)n RNA toxicity in a Drosophila model for myotonic dystrophy type 2 (DM2) activates apoptosis.
Yenigun VB, Sirito M, Amcheslavky A, Czernuszewicz T, Colonques-Bellmunt J, García-Alcover I, Wojciechowska M, Bolduc C, Chen Z, López Castel A, Krahe R, Bergmann A.
Dis Model Mech. 2017 Jun 16. pii: dmm.026179. doi: 10.1242/dmm.026179. [Epub ahead of print]

Dissecting the benefits of long-term non-invasive ventilation in patients with distinct neuromuscular disorders.
Boentert M.
Respirology. 2017 Jun 16. doi: 10.1111/resp.13103. [Epub ahead of print]

Structure and dynamics of RNA repeat expansions that cause Huntington's Disease and myotonic dystrophy type 1.
Chen JL, VanEtten DM, Fountain MA, Yildirim I, Disney MD.
Biochemistry. 2017 Jun 15. doi: 10.1021/acs.biochem.7b00252. [Epub ahead of print]

Ethidium Bromide Modifies The Agarose Electrophoretic Mobility of CAG•CTG Alternative DNA Structures Generated by PCR.
Gomes-Pereira M, Monckton DG.
Front Cell Neurosci. 2017 May 30;11:153. doi: 10.3389/fncel.2017.00153. eCollection 2017.

Identification of Exosomal Muscle-Specific miRNAs in Serum of Myotonic Dystrophy Patients Relating to Muscle Disease Progress.
Koutsoulidou A, Photiades M, Kyriakides TC, Georgiou K, Prokopi M, Kapnisis K, Lusakowska A, Nearchou M, Christou Y, Papadimas GK, Anayiotos A, Kyriakou K, Kararizou E, Zamba Papanicolaou E, Phylactou LA.
Hum Mol Genet. 2017 Jun 16. doi: 10.1093/hmg/ddx212. [Epub ahead of print]

RNA Localization: Making its Way to the Center Stage.
Chin A, Lécuyer E.
Biochim Biophys Acta. 2017 Jun 16. pii: S0304-4165(17)30197-6. doi: 10.1016/j.bbagen.2017.06.011. [Epub ahead of print]

(CCUG)n RNA toxicity in a Drosophila model for myotonic dystrophy type 2 (DM2) activates apoptosis.
Yenigun VB, Sirito M, Amcheslavky A, Czernuszewicz T, Colonques-Bellmunt J, García-Alcover I, Wojciechowska M, Bolduc C, Chen Z, López Castel A, Krahe R, Bergmann A.
Dis Model Mech. 2017 Jun 16. pii: dmm.026179. doi: 10.1242/dmm.026179. [Epub ahead of print]

Benign and Malignant Tumors in the UK Myotonic Dystrophy Patient Registry.
Alsaggaf R, Wang Y, Marini-Bettolo C, Wood L, Nikolenko N, Lochmüller H, Greene MH, Gadalla SM.
Muscle Nerve. 2017 Jun 29. doi: 10.1002/mus.25736. [Epub ahead of print]

Prospective measurement of quality of life in myotonic dystrophy type 1.
Peric S, Heatwole C, Durovic E, Kacar A, Nikolic A, Basta I, Marjanovic A, Stevic Z, Lavrnic D, Rakocevic Stojanovic V.
Acta Neurol Scand. 2017 Jun 28. doi: 10.1111/ane.12788. [Epub ahead of print]

Downregulation of the Glial GLT1 Glutamate Transporter and Purkinje Cell Dysfunction in a Mouse Model of Myotonic Dystrophy.
Sicot G, Servais L, Dinca DM, Leroy A, Prigogine C, Medja F, Braz SO, Huguet-Lachon A, Chhuon C, Nicole A, Gueriba N, Oliveira R, Dan B, Furling D, Swanson MS, Guerrera IC, Cheron G, Gourdon G, Gomes-Pereira M.
Cell Rep. 2017 Jun 27;19(13):2718-2729. doi: 10.1016/j.celrep.2017.06.006.

Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS.
Gourdon G, Meola G.
Front Cell Neurosci. 2017 Apr 20;11:101. doi: 10.3389/fncel.2017.00101. eCollection 2017.

A Flow Cytometry-Based Screen Identifies MBNL1 Modulators that Rescue Splicing Defects in Myotonic Dystrophy Type I.
Zhang F, Bodycombe NE, Haskell KM, Sun YL, Wang ET, Morris CA, Jones LH, Wood LD, Pletcher MT.
Hum Mol Genet. 2017 May 23. doi: 10.1093/hmg/ddx190. [Epub ahead of print]

A 9-year follow-up study of the natural progression of upper limb performance in myotonic dystrophy type 1: A similar decline for phenotypes but not for gender.
Raymond K, Levasseur M, Mathieu J, Desrosiers J, Gagnon C.
Neuromuscul Disord. 2017 May 2. pii: S0960-8966(16)30807-0. doi: 10.1016/j.nmd.2017.04.007. [Epub ahead of print]

Effects of 1-month withdrawal of ventilatory support in hypercapnic myotonic dystrophy type 1.
O'Donoghue FJ, Borel JC, Dauvilliers Y, Levy P, Tamisier R, Pépin JL.
Respirology. 2017 May 9. doi: 10.1111/resp.13068. [Epub ahead of print]

2016

Hard ways towards adulthood: the transition phase in young people with myotonic dystrophy.
Baldanzi S, Ricci G, Simoncini C, Cosci O Di Coscio M, Siciliano G.
Acta Myol. 2016 Dec;35(3):145-149.

Management of cardiac involvement in muscular dystrophies: paediatric versus adult forms.
Palladino A, D'Ambrosio P, Papa AA, Petillo R, Orsini C, Scutifero M, Nigro G, Politano L.
Acta Myol. 2016 Dec;35(3):128-134.

Deregulation of microRNAs in blood and skeletal muscles of myotonic dystrophy type 1 patients.
Ambrose KK, Ishak T, Lian LH, Goh KJ, Wong KT, Ahmad-Annuar A, Thong MK.
Neurol India. 2017 May-Jun;65(3):512-517. doi: 10.4103/neuroindia.NI_237_16.

Ancient antagonism between CELF and RBFOX families tunes mRNA splicing outcomes.
Gazzara MR, Mallory MJ, Roytenberg R, Lindberg J, Jha A, Lynch KW, Barash Y.
Genome Res. 2017 May 16. pii: gr.220517.117. doi: 10.1101/gr.220517.117. [Epub ahead of print]

Toward a more personalized motor function rehabilitation in Myotonic dystrophy type 1: The role of neuroplasticity.
Portaro S, Naro A, Chillura A, Billeri L, Bramanti A, Bramanti P, Rodolico C, Calabrò RS.
PLoS One. 2017 May 25;12(5):e0178470. doi: 10.1371/journal.pone.0178470.

Cortical Thickness and White Matter Integrity are Associated with CTG Expansion Size in Myotonic Dystrophy Type I.
Yoo WK, Park YG, Choi YC, Kim SM.
Yonsei Med J. 2017 Jul;58(4):807-815. doi: 10.3349/ymj.2017.58.4.807.

Survey of Canadian Myotonic Dystrophy Patients' Access to Computer Technology.
Climans SA, Piechowicz C, Koopman WJ, Venance SL.
Can J Neurol Sci. 2017 May 24:1-5. doi: 10.1017/cjn.2017.47. [Epub ahead of print]

Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach.
Meola G, Biasini F, Valaperta R, Costa E, Cardani R.
J Neurol. 2017 May 26. doi: 10.1007/s00415-017-8504-1. [Epub ahead of print]

Subtly modulating Glycogen Synthase Kinase 3 β: allosteric inhibitors development and their potential for the treatment of chronic diseases.
Palomo V, Pérez DI, Roca C, Anderson C, Rodriguez-Muela N, Pérez C, Morales-Garcia JA, Reyes JA, Campillo NE, Pérez-Castillo AM, Rubin LL, Timchenko LT, Gil C, Martínez A.
J Med Chem. 2017 May 26. doi: 10.1021/acs.jmedchem.7b00395. [Epub ahead of print]

Left ventricular longitudinal strain impairment predicts cardiovascular events in asymptomatic type 1 myotonic dystrophy.
Garcia R, Rehman M, Goujeau C, Degand B, Le Gal F, Stordeur B, Labarre Q, Christiaens L, Bouleti C.
Int J Cardiol. 2017 May 19. pii: S0167-5273(17)32086-7. doi: 10.1016/j.ijcard.2017.05.061. [Epub ahead of print]

Classification of Involuntary Movements in Dogs: Myoclonus and Myotonia.
Lowrie M, Garosi L.
J Vet Intern Med. 2017 May 30. doi: 10.1111/jvim.14771. [Epub ahead of print]

Myotonic Dystrophy: Approach to Therapy.
Thornton CA, Wang E, Carrell EM.
Curr Opin Genet Dev. 2017 Apr 1;44:135-140. doi: 10.1016/j.gde.2017.03.007. [Epub ahead of print]

The UK Myotonic Dystrophy Patient Registry: Facilitating and Accelerating Clinical Research.
Wood L, Cordts I, Atalaia A, Marini-Bettolo C, Maddison P, Phillips M, Roberts M, Rogers M, Hammans S, Straub V, Petty R, Orrell R, Monckton DG, Nikolenko N, Jimenez-Moreno AC, Thompson R, Hilton-Jones D, Turner C, Lochmüller H.
J Neurol. 2017 Apr 10. doi: 10.1007/s00415-017-8483-2. [Epub ahead of print]

Reduced Cytoplasmic MBNL1 is an Early Event in a Brain-Specific Mouse Model of Myotonic Dystrophy.
Wang PY, Lin YM, Wang LH, Kuo TY, Cheng SJ, Wang GS.
Hum Mol Genet. 2017 Mar 24. doi: 10.1093/hmg/ddx115.

Delusional and Psychotic Disorders in Juvenile Myotonic Dystrophy Type-1.
Jacobs D, Willekens D, de Die-Smulders C, Frijns JP, Steyaert J.
Am J Med Genet B Neuropsychiatr Genet. 2017 Apr 27. doi: 10.1002/ajmg.b.32524. [Epub ahead of print]

Arrhythmic Risk Evaluation in Myotonic Dystrophy: The Importance of Selection Criteria and Methodological Approach.
Russo V, Papa AA, Rago A, Nigro G.
Clin Auton Res. 2017 Apr 27. doi: 10.1007/s10286-017-0421-y. [Epub ahead of print]

Trinucleotide-Repeat Expanded and Normal DMPK Transcripts Contain Unusually Long Poly(A) Tails Despite Differential Nuclear Residence.
Gudde AEEG, van Kessel IDG, André LM, Wieringa B, Wansink DG.
Biochim Biophys Acta. 2017 Apr 18. pii: S1874-9399(17)30022-6. doi: 10.1016/j.bbagrm.2017.04.002. [Epub ahead of print]

Single-Tube Dodecaplex PCR Panel of Polymorphic Microsatellite Markers Closely Linked to the DMPK CTG Repeat for Preimplantation Genetic Diagnosis of Myotonic Dystrophy Type 1.
Lian M, Zhao M, Lee CG, Chong SS.
Clin Chem. 2017 Apr 20. pii: clinchem.2017.271528. doi: 10.1373/clinchem.2017.271528. [Epub ahead of print]

Optical Mapping Approaches on Muscleblind-Like Compound Knockout Mice for Understanding Mechanistic Insights Into Ventricular Arrhythmias in Myotonic Dystrophy.
Chou CC, Chang PC, Wei YC, Lee KY.
J Am Heart Assoc. 2017 Apr 17;6(4). pii: e005191. doi: 10.1161/JAHA.116.005191.

Structural Characteristics of Simple RNA Repeats Associated with Disease and their Deleterious Protein Interactions.
Ciesiolka A, Jazurek M, Drazkowska K, Krzyzosiak WJ.
Front Cell Neurosci. 2017 Apr 11;11:97. doi: 10.3389/fncel.2017.00097.

2D and 3D FISH of Expanded Repeat Rnas in Human Lymphoblasts.
Urbanek MO, Michalak M, Krzyzosiak WJ.
Methods. 2017 Apr 9. pii: S1046-2023(16)30386-3. doi: 10.1016/j.ymeth.2017.04.002. [Epub ahead of print]

Quality of Life and Excessive Daytime Sleepiness In Children And Adolescents With Myotonic Dystrophy Type 1.
Ho G, Widger J, Cardamone M, Farrar MA.
Sleep Med. 2017 Apr;32:92-96. doi: 10.1016/j.sleep.2016.12.005.

Muscle-specific Expression of the RNA-binding Protein Staufen1 Induces Progressive Skeletal Muscle Atrophy via Regulation of Phosphatase Tensin Homolog.
Crawford Parks TE, Ravel-Chapuis A, Bondy-Chorney E, Renaud JM, Côté J, Jasmin BJ.
Hum Mol Genet. 2017 Mar 24. doi: 10.1093/hmg/ddx085. 

Misregulation of Calcium-Handling Proteins Promotes Hyperactivation of Calcineurin-NFAT Signaling in Skeletal Muscle of DM1 Mice.
Ravel-Chapuis A, Bélanger G, Côté J, Michel RN, Jasmin BJ.
Hum Mol Genet. 2017 Mar 27. doi: 10.1093/hmg/ddx109.

Drosophila melanogaster As a Model Organism to Study RNA Toxicity of Repeat Expansion-Associated Neurodegenerative and Neuromuscular Diseases.
Koon AC, Chan HY.
Front Cell Neurosci. 2017 Mar 21;11:70. doi: 10.3389/fncel.2017.00070.

Analysis of CTG Repeat Length Variation in the DMPK Gene in ihe General Population and the Molecular Diagnosis of Myotonic Dystrophy Type 1 in Malaysia.
Ambrose KK, Ishak T, Lian LH, Goh KJ, Wong KT, Ahmad-Annuar A, Thong MK.
BMJ Open. 2017 Mar 31;7(3):e010711. doi: 10.1136/bmjopen-2015-010711.

New Developments in RAN Translation: Insights from Multiple Diseases.
Cleary JD, Ranum LP.
Curr Opin Genet Dev. 2017 Mar 30;44:125-134. doi: 10.1016/j.gde.2017.03.006. [Epub ahead of print]

Myotonic dystrophy: disease repeat range, penetrance, age of onset, and relationship between repeat size and phenotypes.
Yum K, Wang ET, Kalsotra A.
Curr Opin Genet Dev. 2017 Feb 14;44:30-37. doi: 10.1016/j.gde.2017.01.007. [Epub ahead of print]

RNA toxicity and foci formation in microsatellite expansion diseases.
Zhang N, Ashizawa T.
Curr Opin Genet Dev. 2017 Feb 13;44:17-29. doi: 10.1016/j.gde.2017.01.005. [Epub ahead of print]

Learning disabilities in neuromuscular disorders: a springboard for adult life.
Astrea G, Battini R, Lenzi S, Frosini S, Bonetti S, Moretti E, Perazza S, Santorelli FM, Pecini C.
Acta Myol. 2016 Oct;35(2):90-95.

Increased heterogeneity of ventricular repolarization in myotonic dystrophy type 1 population.
Russo V, Papa AA, Rago A, D'Ambrosio P, Cimmino G, Palladino A, Politano L, Nigro G.
Acta Myol. 2016 Oct;35(2):100-106.

Voltage-directed cavo-tricuspid isthmus ablation using a novel ablation catheter mapping technology in a myotonic dystrophy type I patient.
Russo V, Rago A, Papa AA, Di Meo F, Ciardiello C, Cimmino G, Nigro G.
Acta Myol. 2016 Oct;35(2):109-113.

CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.
Barbé L, Lanni S, López-Castel A, Franck S, Spits C, Keymolen K, Seneca S, Tomé S, Miron I, Letourneau J, Liang M, Choufani S, Weksberg R, Wilson MD, Sedlacek Z, Gagnon C, Musova Z, Chitayat D, Shannon P, Mathieu J, Sermon K, Pearson CE.
Am J Hum Genet. 2017 Mar 2;100(3):488-505. doi: 10.1016/j.ajhg.2017.01.033.

Elevated Plasma Levels of Cardiac Troponin-I Predict Left Ventricular Systolic Dysfunction in Patients with Myotonic Dystrophy Type 1: A Multicentre Cohort Follow-up Study.
Hamilton MJ, Robb Y, Cumming S, Gregory H, Duncan A, Rahman M, McKeown A, McWilliam C, Dean J, Wilcox A, Farrugia ME, Cooper A, McGhie J, Adam B, Petty R; Scottish Myotonic Dystrophy Consortium., Longman C, Findlay I, Japp A, Monckton DG, Denvir MA.
PLoS One. 2017 Mar 21;12(3):e0174166. doi: 10.1371/journal.pone.0174166.

Further Evidence for the Reliability and Validity of the Fatigue and Daytime Sleepiness Scale.
Gallais B, Gagnon C, Forgues G, Côté I, Laberge L.
J Neurol Sci. 2017 Apr 15;375:23-26. doi: 10.1016/j.jns.2017.01.032.

Role of Electrophysiological Evaluation for the Best Device Choice to Prevent Sudden Cardiac Death in Patients with Myotonic Dystrophy Type 1 and Emery Dreifuss Muscular Dystrophy.
Russo V, Politano L, Nigro G.
Trends Cardiovasc Med. 2017 Feb 5. pii: S1050-1738(17)30013-0. doi: 10.1016/j.tcm.2017.02.001. [Epub ahead of print]

Cutaneous Neoplasms in Myotonic Dystrophy Type 1.
Marcoval J, Olivé M, Bonfill-Ortí M, Martínez-Molina L, Talavera-Belmonte A.
Dermatology. 2017 Mar 2. doi: 10.1159/000456074. [Epub ahead of print]

Cardiac Autonomic Function in Type 1 and Type 2 Myotonic Dystrophy.
Bienias P, Łusakowska A, Ciurzyński M, Rymarczyk Z, Irzyk K, Konwerski M, Ciąpała K, Kowalski P, Kamińska A, Pruszczyk P.
Clin Auton Res. 2017 Mar 20. doi: 10.1007/s10286-017-0413-y. [Epub ahead of print]

Advances in Assessing Myotonia: Can Sensor-engineered Glove have a Role?
Portaro S, Russo M, Naro A, Bramanti A, Bramanti P, Rodolico C, Calabrò RS.
J Neurol Sci. 2017 Apr 15;375:3-7. doi: 10.1016/j.jns.2017.01.038.

Pigmentation Phenotype, Photosensitivity and Skin Neoplasms in Patients with Myotonic Dystrophy.
Gadalla SM, Hilbert JE, Martens WB, Givens S, Moxley RT 3rd, Greene MH.
Eur J Neurol. 2017 Mar 20. doi: 10.1111/ene.13276. [Epub ahead of print]

Quantitative Assessment of Trunk Muscles Involvement in Patients with Myotonic Dystrophy Type 1 Using a Whole Body Muscle Magnetic Resonance Imaging.
Park D, Park JS.
Eur Neurol. 2017 Mar 14;77(5-6):238-245. doi: 10.1159/000460291. [Epub ahead of print]

CRISPR/Cas9-Induced (CTG⋅CAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing.
van Agtmaal EL, André LM, Willemse M, Cumming SA, van Kessel ID, van den Broek WJ, Gourdon G, Furling D, Mouly V, Monckton DG, Wansink DG, Wieringa B.
Mol Ther. 2017 Jan 4;25(1):24-43. doi: 10.1016/j.ymthe.2016.10.014.

Incidence and Predictors of Sudden Death, Major Conduction Defects and Sustained Ventricular Tachyarrhythmias in 1388 Patients with Myotonic Dystrophy Type 1.
Wahbi K, Babuty D, Probst V, Wissocque L, Labombarda F, Porcher R, Bécane HM, Lazarus A, Béhin A, Laforêt P, Stojkovic T, Clementy N, Dussauge AP, Gourraud JB, Pereon Y, Lacour A, Chapon F, Milliez P, Klug D, Eymard B, Duboc D.
Eur Heart J. 2016 Dec 9. doi: 10.1093/eurheartj/ehw569. [Epub ahead of print]

Immortalized Human Myotonic Dystrophy Muscle Cell Lines to Assess Therapeutic Compounds.
Ludovic A, Micaela PE, Magdalena M, Audrey B, Damily DD, Naïra N, Frédérique R, Arnaud J, Frédérique EV, Kamel M, Mark T, Jack P, Christophe B, Anne B, Jean-Francois D, Vincent M, Arnaud KF, Denis F.
Dis Model Mech. 2017 Feb 10. pii: dmm.027367. doi: 10.1242/dmm.027367. [Epub ahead of print]

Myotonic Dystrophy: Disease Repeat Range, Penetrance, Age of Onset, and Relationship between Repeat Size and Phenotypes.
Yum K, Wang ET, Kalsotra A.
Curr Opin Genet Dev. 2017 Feb 14;44:30-37. doi: 10.1016/j.gde.2017.01.007. [Epub ahead of print]

Myotonic Dystrophy Type 1 Patient-derived iPSCs for the Investigation of CTG Repeat Instability.
Ueki J, Nakamori M, Nakamura M, Nishikawa M, Yoshida Y, Tanaka A, Morizane A, Kamon M, Araki T, Takahashi MP, Watanabe A, Inagaki N, Sakurai H.
Sci Rep. 2017 Feb 13;7:42522. doi: 10.1038/srep42522.

Electromechanical Delays during a Fatiguing Exercise and Recovery in Patients with Myotonic Dystrophy Type 1.
Esposito F, Cè E, Rampichini S, Monti E, Limonta E, Fossati B, Meola G.
Eur J Appl Physiol. 2017 Feb 14. doi: 10.1007/s00421-017-3558-4. [Epub ahead of print]

Apical Left Ventricular Myocardial Dysfunction is an Early Feature of Cardiac Involvement in Myotonic Dystrophy Type 1.
Garcia R, Labarre Q, Degand B, Ingrand P, Le Gal F, Bonnet B, Delaubier A, Guillou C, Gellen B, Coisne D, Bouleti C, Christiaens L.
Echocardiography. 2017 Feb 13. doi: 10.1111/echo.13426. [Epub ahead of print]

Hereditary Myopathies with Early Respiratory Insufficiency in Adults.
Naddaf E, Milone M.
Muscle Nerve. 2017 Feb 9. doi: 10.1002/mus.25602. [Epub ahead of print]

Longitudinal course of lung function in myotonic dystrophy type 1.
Thil C, Agrinier N, Chenuel B, Poussel M.
Muscle Nerve. 2017 Feb 9. doi: 10.1002/mus.25604. [Epub ahead of print]

Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA).
DiPaolo G, Jimenez-Moreno C, Nikolenko N, Atalaia A, Monckton DG, Guglieri M, Lochmüller H.
J Neurol. 2017 Feb 6. doi: 10.1007/s00415-017-8399-x. [Epub ahead of print]

Brain Involvement in Myotonic Dystrophy Type 1: A Morphometric and Diffusion Tensor Imaging Study with Neuropsychological Correlation.
Cabada T, Iridoy M, Jericó I, Lecumberri P, Seijas R, Gargallo A, Gomez M.
Arch Clin Neuropsychol. 2017 Feb 6:1-12. doi: 10.1093/arclin/acx008. [Epub ahead of print]

Association of peripheral neuropathy with sleep-related breathing disorders in myotonic dystrophies.
Banach M, Antczak J, Rola R.
Neuropsychiatr Dis Treat. 2017 Jan 12;13:133-140. doi: 10.2147/NDT.S123908.

Pseudouridine modification inhibits muscleblind-like 1 (MBNL1) binding to CCUG repeats and minimally structured RNA through reduced RNA flexibility.
deLorimier E, Hinman MN, Copperman J, Datta K, Guenza M, Berglund JA.
J Biol Chem. 2017 Jan 27. pii: jbc.M116.770768. doi: 10.1074/jbc.M116.770768. [Epub ahead of print]

The CELF1 RNA-Binding Protein Regulates Decay of Signal Recognition Particle mRNAs and Limits Secretion in Mouse Myoblasts.
Russo J, Lee JE, López CM, Anderson J, Nguyen TP, Heck AM, Wilusz J, Wilusz CJ.
PLoS One. 2017 Jan 27;12(1):e0170680. doi: 10.1371/journal.pone.0170680.

Antisense transcription of the myotonic dystrophy locus yields low-abundant RNAs with and without (CAG)n repeat.
Gudde AE, van Heeringen SJ, de Oude AI, van Kessel ID, Estabrook J, Wang ET, Wieringa B, Wansink DG.
RNA Biol. 2017 Jan 19:0. doi: 10.1080/15476286.2017.1279787. [Epub ahead of print]

Prevalence of myotonic dystrophy type 1 in adults in western Sweden.
Lindberg C, Bjerkne F.
Neuromuscul Disord. 2016 Dec 13. pii: S0960-8966(16)30053-0. doi: 10.1016/j.nmd.2016.12.005. [Epub ahead of print]

Micro-RNA expression in muscle and fiber morphometry in myotonic dystrophy type 1.
Fritegotto C, Ferrati C, Pegoraro V, Angelini C.
Neurol Sci. 2017 Jan 11. doi: 10.1007/s10072-017-2811-2. [Epub ahead of print]

Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects.
Meola G, Cardani R.
Neurol Sci. 2017 Jan 11. doi: 10.1007/s10072-016-2805-5. [Epub ahead of print] Review.

Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis.
Campione E, Botta A, Di Prete M, Rastelli E, Gibellini M, Petrucci A, Bernardini S, Novelli G, Bianchi L, Orlandi A, Massa R, Terracciano C.
Neuromuscul Disord. 2016 Nov 16. pii: S0960-8966(16)30856-2. doi: 10.1016/j.nmd.2016.11.004. [Epub ahead of print]

Is one trial enough for repeated testing? Same-day assessments of walking, mobility and fine hand use in people with myotonic dystrophy type 1.
Kierkegaard M, Petitclerc E, Hébert LJ, Gagnon C.
Neuromuscul Disord. 2016 Dec 5. pii: S0960-8966(16)30790-8. doi: 10.1016/j.nmd.2016.11.018. [Epub ahead of print]

Short intron-derived ncRNAs.
Hubé F, Ulveling D, Sureau A, Forveille S, Francastel C.
Nucleic Acids Res. 2017 Jan 3. pii: gkw1341. doi: 10.1093/nar/gkw1341. [Epub ahead of print]

Steinert syndrome and repercussions in dental medicine.
Baptista H, Lopes Cardoso I.
Arch Oral Biol. 2016 Dec 23;75:37-47. doi: 10.1016/j.archoralbio.2016.12.008. [Epub ahead of print] Review.

Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1.
Perfetti A, Greco S, Cardani R, Fossati B, Cuomo G, Valaperta R, Ambrogi F, Cortese A, Botta A, Mignarri A, Santoro M, Gaetano C, Costa E, Dotti MT, Silvestri G, Massa R, Meola G, Martelli F.
Sci Rep. 2016 Dec 1;6:38174. doi: 10.1038/srep38174.

Cardiac Abnormalities in Congenital and Childhood Myotonic Muscular Dystrophy Type 1.
Sharma A, Singh S, Mishra SK.
Neuropediatrics. 2016 Dec 19. [Epub ahead of print]

Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis.
Santoro M, Masciullo M, Silvestri G, Novelli G, Botta A.
Clin Genet. 2016 Dec 19. doi: 10.1111/cge.12954. [Epub ahead of print] Review.

Precise small-molecule recognition of a toxic CUG RNA repeat expansion.
Rzuczek SG, Colgan LA, Nakai Y, Cameron MD, Furling D, Yasuda R, Disney MD.
Nat Chem Biol. 2016 Dec 12. doi: 10.1038/nchembio.2251. [Epub ahead of print]

Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1.
Wahbi K, Babuty D, Probst V, Wissocque L, Labombarda F, Porcher R, Bécane HM, Lazarus A, Béhin A, Laforêt P, Stojkovic T, Clementy N, Dussauge AP, Gourraud JB, Pereon Y, Lacour A, Chapon F, Milliez P, Klug D, Eymard B, Duboc D.
Eur Heart J. 2016 Dec 9. pii: ehw569. [Epub ahead of print]

Preferential changes of skeletal muscle echogenicity in myotonic dystrophy type 1.
Takamatsu N, Sogawa K, Nodera H, Hashiguchi S, Osaki Y, Saito M, Mori A, Izumi Y, Kaji R.
Eur J Neurol. 2016 Dec 9. doi: 10.1111/ene.13212. [Epub ahead of print]

A population-based epidemiologic study of adult neuromuscular disease in the Republic of Ireland.
Lefter S, Hardiman O, Ryan AM.
Neurology. 2016 Dec 7. pii: 10.1212/WNL.0000000000003504. [Epub ahead of print]

Sleepiness and Sleep-related Breathing Disorders in Myotonic Dystrophy and Responses to Treatment: A Prospective Cohort Study.
West SD, Lochmüller H, Hughes J, Atalaia A, Marini-Bettolo C, Baudouin SV, Anderson KN.
J Neuromuscul Dis. 2016 Nov 29;3(4):529-537.

Autoregulation of MBNL1 function by exon 1 exclusion from MBNL1 transcript.
Konieczny P, Stepniak-Konieczna E, Taylor K, Sznajder ŁJ, Sobczak K.
Nucleic Acids Res. 2016 Nov 29. pii: gkw1158. [Epub ahead of print]

Clusters of cognitive impairment among different phenotypes of myotonic dystrophy type 1 and type 2.
Peric S, Rakocevic Stojanovic V, Mandic Stojmenovic G, Ilic V, Kovacevic M, Parojcic A, Pesovic J, Mijajlovic M, Savic-Pavicevic D, Meola G.
Neurol Sci. 2016 Nov 28. [Epub ahead of print]

Unusual structures of CCTG repeats and their participation in repeat expansion.
Guo P, Lam SL.
Biomol Concepts. 2016 Dec 1;7(5-6):331-340. doi: 10.1515/bmc-2016-0024.

Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles.
Botta A, Rossi G, Marcaurelio M, Fontana L, D'Apice MR, Brancati F, Massa R, G Monckton D, Sangiuolo F, Novelli G.
Eur J Hum Genet. 2016 Nov 23. doi: 10.1038/ejhg.2016.148. [Epub ahead of print]

A review of muscle, and performance-based assessment instruments in DM1
Symonds T, Campbell P, Randall JA.
Muscle Nerve. 2016 Nov 11. doi: 10.1002/mus.25468.

Physical Function and Mobility in Children with Congenital Myotonic Dystrophy
Pucillo EM, DiBella DL, Hung M, Bounsanga J, Crockett B, Dixon M, Butterfield RJ, Campbell C, Johnson NE.
Muscle Nerve. 2016 Nov 18. doi: 10.1002/mus.25482.

Left Ventricular Dysfunction and Conduction Disturbances in Patients With Myotonic Muscular Dystrophy Type I and II
Tanawuttiwat T, Wagner KR, Tomaselli G, Nazarian S.
JAMA Cardiol. 2016 Nov 9. doi: 10.1001/jamacardio.2016.4145.

A Review of Patient Reported Outcome Measures for Use in DM1 Patients
Symonds T, Randall JA, Campbell P.
Muscle Nerve. 2016 Nov 11. doi: 10.1002/mus.25469.

Cognitive decline over time in adults with myotonic dystrophy type 1: A 9-year longitudinal study.
Gallais B, Gagnon C, Mathieu J, Richer L.
Neuromuscul Disord. 2016 Oct 14. pii: S0960-8966(16)30846-X. doi: 10.1016/j.nmd.2016.10.003. [Epub ahead of print]

Dysregulation of mRNA Localization and Translation in Genetic Disease.
Wang ET, Taliaferro JM, Lee JA, Sudhakaran IP, Rossoll W, Gross C, Moss KR, Bassell GJ.
J Neurosci. 2016 Nov 9;36(45):11418-11426.

The Impact of Pregnancy on Myotonic Dystrophy: A Registry-Based Study
Johnson NE, Hung M, Nasser E, Hagerman KA, Chen W, Ciafaloni E, Heatwole CR.
J Neuromuscul Dis. 2015 Oct 7;2(4):447-452.

Can Long-term Thiamine Treatment Improve the Clinical Outcomes of Myotonic Dystrophy Type 1?
Costantini A, Trevi E, Pala MI, Fancellu R.
Neural Regen Res. 2016 Sep;11(9):1487-1491.

Developmental Milestones and Quality of Life Assessment in a Congenital Myotonic Dystrophy Cohort
Prasad M, Hicks R, MacKay M, Nguyen CT, Campbell C.
J Neuromuscul Dis. 2016 Aug 30;3(3):405-412.

Do Psychosocial Interventions Improve Quality of Life and Wellbeing in Adults with Neuromuscular Disorders? A Systematic Review and Narrative Synthesis
Walklet E, Muse K, Meyrick J, Moss T.
J Neuromuscul Dis. 2016 Aug 30;3(3):347-362.

Can Human Pluripotent Stem Cell-Derived Cardiomyocytes Advance Understanding of Muscular Dystrophies?
Kalra S, Montanaro F, Denning C.
J Neuromuscul Dis. 2016 Aug 30;3(3):309-332.

Development of Pharmacophore Models for Small Molecules Targeting RNA: Application to the RNA Repeat Expansion in Myotonic Dystrophy Type 1.
Angelbello AJ, González ÀL, Rzuczek SG, Disney MD.
Bioorg Med Chem Lett. 2016 Oct 13. pii: S0960-894X(16)31065-4. doi: 10.1016/j.bmcl.2016.10.037.

MRI Findings and Cognitive Functions in a Small Cohort of Myotonic Dystrophy Type 1: Retrospective Analyses
Bajrami A, Azman F, Yayla V, Cagirici S, Keskinkiliç C, Sozer N.
Neuroradiol J. 2016 Nov 11. pii: 1971400916678223.

Myotonic Dystrophy Type 1 Management and Therapeutics
Smith CA, Gutmann L.
Curr Treat Options Neurol. 2016 Dec;18(12):52.

High-sensitive cardiac troponin T (hs-cTnT) assay as serum biomarker to predict cardiac risk in myotonic dystrophy: A case-control study.
Valaperta R, Gaeta M, Cardani R, Lombardi F, Rampoldi B, De Siena C, Mori F, Fossati B, Gaia P, Ferraro OE, Villani S, Iachettini S, Piccoli M, Cirillo F, Pusineri E, Meola G, Costa E.
Clin Chim Acta. 2016 Oct 22;463:122-128. doi: 10.1016/j.cca.2016.10.026.

Defining the performance parameters of a rapid screening tool for myotonic dystrophy type 1 based on triplet-primed PCR and melt curve analysis.
Lian M, Law HY, Lee CG, Chong SS.
Expert Rev Mol Diagn. 2016 Nov;16(11):1221-1232.

Effects of Functional Electrical Stimulation Lower Extremity Training in Myotonic Dystrophy Type I: A Pilot Controlled Study.
Cudia P, Weis L, Baba A, Kiper P, Marcante A, Rossi S, Angelini C, Piccione F.
Am J Phys Med Rehabil. 2016 Nov;95(11):809-817.

Functional KCa1.1 channels are crucial for regulating the proliferation, migration and differentiation of human primary skeletal myoblasts.
Tajhya RB, Hu X, Tanner MR, Huq R, Kongchan N, Neilson JR, Rodney GG, Horrigan FT, Timchenko LT, Beeton C.
Cell Death Dis. 2016 Oct 20;7(10):e2426. doi: 10.1038/cddis.2016.324.

Major involvement of trunk muscles in myotonic dystrophy type 1.
Solbakken G, Ørstavik K, Hagen T, Dietrichs E, Naerland T.
Acta Neurol Scand. 2016 Dec;134(6):467-473. doi: 10.1111/ane.12565.

Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy.
Fitzgerald BP, Conn KM, Smith J, Walker A, Parkhill AL, Hilbert JE, Luebbe EA, Moxley Iii RT.
J Neurol. 2016 Oct 12.

Molecular Diagnosis of Myotonic Dystrophy.
Chakraborty S, Vatta M, Bachinski LL, Krahe R, Dlouhy S, Bai S.
Curr Protoc Hum Genet. 2016 Oct 11;91:9.29.1-9.29.19. doi: 10.1002/cphg.22.

Five-year study of quality of life in myotonic dystrophy.
Peric S, Vujnic M, Dobricic V, Marjanovic A, Basta I, Novakovic I, Lavrnic D, Rakocevic-Stojanovic V.
Acta Neurol Scand. 2016 Nov;134(5):346-351.

A Ligand That Targets CUG Trinucleotide Repeats.
Li J, Matsumoto J, Bai LP, Murata A, Dohno C, Nakatani K.
Chemistry. 2016 Oct 10;22(42):14881-14889. 

Factors influencing compliance with non-invasive ventilation at long-term in patients with myotonic dystrophy type 1: A prospective cohort.
Boussaïd G, Lofaso F, Santos DB, Vaugier I, Pottier S, Prigent H, Orlikowski D, Bahrami S.
Neuromuscul Disord. 2016 Oct;26(10):666-674.

Conservation of context-dependent splicing activity in distant Muscleblind homologs.
Oddo JC, Saxena T, McConnell OL, Berglund JA, Wang ET.
Nucleic Acids Res. 2016 Sep 30;44(17):8352-62. 

Dose-Dependent Regulation of Alternative Splicing by MBNL Proteins Reveals Biomarkers for Myotonic Dystrophy.
Wagner SD, Struck AJ, Gupta R, Farnsworth DR, Mahady AE, Eichinger K, Thornton CA, Wang ET, Berglund JA.
PLoS Genet. 2016 Sep 28;12(9):e1006316. 

Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification.
De Antonio M, Dogan C, Hamroun D, Mati M, Zerrouki S, Eymard B, Katsahian S, Bassez G; French Myotonic Dystrophy Clinical Network.
Rev Neurol (Paris). 2016 Sep 21. pii: S0035-3787(16)30205-3. 

Genome Editing of Monogenic Neuromuscular Diseases: A Systematic Review.
Long C, Amoasii L, Bassel-Duby R, Olson EN.
JAMA Neurol. 2016 Sep 26.

Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism.
Musova Z, Hancarova M, Havlovicova M, Pourova R, Hrdlicka M, Kraus J, Trkova M, Stejskal D, Sedlacek Z.
Neuropsychiatr Dis Treat. 2016 Sep 19;12:2367-2372.

The motor function measure (MFM) in the myotonic dystrophy type 1 population: Description and responsiveness.
de Lattre C, Rippert P, Bassez G, Hamroun D, Poirot I, Vuillerot C.
Ann Phys Rehabil Med. 2016 Sep;59S:e81.

Participation restriction in childhood phenotype of myotonic dystrophy type 1: a systematic retrospective chart review.
Gagnon C, Kierkegaard M, Blackburn C, Chrestian N, Lavoie M, Bouchard MF, Mathieu J.
Dev Med Child Neurol. 2016 Sep 27. 

Myotonic Dystrophy and Huntington's Disease Care: "We Like to Think We're Making a Difference".
LaDonna KA, Watling CJ, Ray SL, Piechowicz C, Venance SL.
Can J Neurol Sci. 2016 Sep;43(5):678-86.

Defining the performance parameters of a rapid screening tool for myotonic dystrophy type 1 based on triplet-primed PCR and melt curve analysis.
Lian M, Law HY, Lee CG, Chong SS.
Expert Rev Mol Diagn. 2016 Sep 24. 

Disease Phenotypes in a Mouse Model of RNA Toxicity Are Independent of Protein Kinase Cα and Protein Kinase Cβ.
Kim YK, Yadava RS, Mandal M, Mahadevan K, Yu Q, Leitges M, Mahadevan MS.
PLoS One. 2016 Sep 22;11(9):e0163325. 

Neuromuscular transmission abnormalities in myotonic dystrophy type 1: A neurophysiological study.
Bombelli F, Lispi L, Porrini SC, Giacanelli M, Terracciano C, Massa R, Petrucci A.
Clin Neurol Neurosurg. 2016 Aug 29;150:84-88. 

Staufen1s role as a splicing factor and a disease modifier in Myotonic Dystrophy Type I.
Bondy-Chorney E, Crawford Parks TE, Ravel-Chapuis A, Jasmin BJ, Côté J.
Rare Dis. 2016 Aug 19;4(1):e1225644.