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Recent DM Research Publications

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.

Liang R, Dong W, Shen X, Peng X, Aceves AG, Liu Y. J Vis Exp. 2016 Jul 29.
 
Lovadi E, Csereklyei M, Merkli H, Fülöp K, Sebők Á, Karcagi V, Komoly S, Pál E. Muscle Nerve. 2016 Aug 4. 
Choi J, Dixon DM, Dansithong W, Abdallah WF, Roos KP, Jordan MC, Trac B, Lee HS, Comai L, Reddy S. Sci Rep. 2016 Aug 3.
 
Hayashi K, Hamano T, Kawamura Y, Kimura H, Matsunaga A, Ikawa M, Yamamura O, Mutoh T, Higuchi I, Kuriyama M, Nakamoto Y. Eur Neurol. 2016 Jul 29.
 
Sommerville RB, Vincenti MG, Winborn K, Casey A, Stitziel NO, Connolly AM, Mann DL. Trends Cardiovasc Med. 2016 Jun 14.
 
Baldanzi S, Cecchi P, Fabbri S, Pesaresi I, Simoncini C, Angelini C, Bonuccelli U, Cosottini M, Siciliano G. Neuroimage Clin. 2016 Jun 15.
 
Bienias P, Łusakowska A, Ciurzyński M, Rymarczyk Z, Irzyk K, Kurnicka K, Kamińska A, Pruszczyk P. Pacing Clin Electrophysiol. 2016 Jul 22.
 
Renard D, Collombier L, Castelli C, Pouget JP, Kotzki PO, Boudousq V. BMC Neurol. 2016 Jul 13.
 
Leonardis L. Acta Neurol Scand. 2016 Jul 12.
 
 

[Congenital neuromuscular diseases with neonatal respiratory failure excluding myotonic dystrophy type 1 and infantile spinal muscular atrophy. Diagnosis strategy according to a 19-child series].
Raignoux J, Walther-Louvier U, Espil C, Berthomieu L, Uro-Coste E, Rivier F, Cances C. Arch Pediatr. 2016 Jun 30.

Targeting the Heart for Risk Assessment in Myotonic Dystrophy: An Application for Cardiac Magnetic Resonance.
Shah RV, Semigran MJ. Circ Cardiovasc Imaging. 2016 Jul 9.

Cardiac Involvement in Myotonic Dystrophy Type 2 Patients With Preserved Ejection Fraction: Detection by Cardiovascular Magnetic Resonance.
Schmacht L, Traber J, Grieben U, Utz W, Dieringer MA, Kellman P, Blaszczyk E, von Knobelsdorff-Brenkenhoff F, Spuler S, Schulz-Menger J. Circ Cardiovasc Imaging. 2016 Jul 9.

Bilateral Adduction Palsy in a Patient with Myotonic Dystrophy Type 1.
Kim HJ, Oh JH, Kang SY. Exp Neurobiol. 2016 Jun 25.

Integrating Display and Delivery Functionality with a Cell Penetrating Peptide Mimic as a Scaffold for Intracellular Multivalent Multi-targeting.
Bai Y, Nguyen LT, Song Z, Peng S, Lee J, Zheng N, Kapoor I, Hagler LD, Cai K, Cheng J, Chan HY, Zimmerman SC. J Am Chem Soc. 2016 Jun 29.

Focal seizures in a patient with myotonic disorder type 2 co-segregating with a chloride voltage-gated channel 1 gene mutation: a case report.
Peddareddygari LR, Grewal AS, Grewal RP. J Med Case Rep. 2016 Jun 7.

Modeling simple repeat expansion diseases with iPSC technology.
Jaworska E, Kozlowska E, Switonski PM, Krzyzosiak WJ. Cell Mol Life Sci. 2016 Jun 3

Understanding the molecular consequences of inherited muscular dystrophies: advancements through proteomic experimentation.
Fuller HR, Graham LC, Llavero Hurtado M, Wishart TM. Expert Rev Proteomics. 2016 Jul 5

Cognition in myotonic dystrophy type 1: a 5-year follow-up study.
Winblad S, Samuelsson L, Lindberg C, Meola G. Eur J Neurol. 2016 Jun 20.

Identification of Plant-derived Alkaloids with Therapeutic Potential for Myotonic Dystrophy Type I.
Herrendorff R, Faleschini MT, Stiefvater A, Erne B, Wiktorowicz T, Kern F, Hamburger M, Potterat O, Kinter J, Sinnreich M. J Biol Chem. 2016 Jun 13.

Disease burden and functional outcomes in congenital myotonic dystrophy: A cross-sectional study.
Johnson NE, Butterfield R, Berggren K, Hung M, Chen W, DiBella D, Dixon M, Hayes H, Pucillo E, Bounsanga J, Heatwole C, Campbell C. Neurology. 2016 Jun 15.

An Overview of Cardiac Management in Neuromuscular Disease.
Hickey RM, Cullen JD, Sachs GM. Open Cardiovasc Med J. 2016 May 27.

Identification of MyoD Interactome Using Tandem Affinity Purification Coupled to Mass Spectrometry.
Boyarchuk E, Robin P, Fritsch L, Joliot V, Ait-Si-Ali S. J Vis Exp. 2016 May 17.

A Molecular Signature of Myalgia in Myotonic Dystrophy 2.
Moshourab R, Palada V, Grunwald S, Grieben U, Lewin GR, Spuler S. EBioMedicine. 2016 May 7.

Relationship of white and gray matter abnormalities to clinical and genetic features in myotonic dystrophy type 1.
Zanigni S, Evangelisti S, Giannoccaro MP, Oppi F, Poda R, Giorgio A, Testa C, Manners DN, Avoni P, Gramegna LL, De Stefano N, Lodi R, Tonon C, Liguori R. Neuroimage Clin. 2016 May 3

A tell tale handshake.
Wander P, Iluyomade A, Sanmartin P, Gupta A, O'Sullivan M. Respir Med Case Rep. 2016 May 3.

Derivation of DM2 affected human embryonic stem cell line Genea066.
Dumevska B, Schaft J, McKernan R, Goel D, Schmidt U. Stem Cell Res. 2016 Mar 16.

Brain Connectomics' Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1.
Serra L, Mancini M, Silvestri G, Petrucci A, Masciullo M, Spanò B, Torso M, Mastropasqua C, Giacanelli M, Caltagirone C, Cercignani M, Meola G, Bozzali M. Neural Plast. 2016

Prospect of gene therapy for cardiomyopathy in hereditary muscular dystrophy.
Yue Y, Binalsheikh IM, Leach SB, Domeier TL, Duan D. Epub 2015 Dec 17.

Quality of life in patients with myotonic dystrophy type 2.
Rakocevic Stojanovic V, Peric S, Paunic T, Pesovic J, Vujnic M, Peric M, Nikolic A, Lavrnic D, Savic Pavicevic D. J Neurol Sci. 2016 Jun 15.
 
Modeling simple repeat expansion diseases with iPSC technology.
Jaworska E, Kozlowska E, Switonski PM, Krzyzosiak WJ. Cell Mol Life Sci. 2016 Jun 3. 
 
 
Raymond K, Levasseur M, Chouinard MC, Mathieu J, Gagnon C. Can J Occup Ther. 2016 Jun 3.
 
Luu LM, Nguyen L, Peng S, Lee J, Lee HY, Wong CH, Hergenrother PJ, Chan HY, Zimmerman SC. ChemMedChem. 2016 Jun 1. 
 
What's in the Literature?
Silvestri NJ, Wolfe GI, Bromberg M, Lacomis D. J Clin Neuromuscul Dis. 2016 Jun 17.
 
Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype.
Larsen M, Kress W, Schoser B, Hehr U, Müller CR, Rost S. Eur J Hum Genet. 2016 May 25. 
 
Drug resistant focal epilepsy in a patient with myotonic dystrophy type 2: casual or causal association?
Giuliano L, Sofia V, Cardani R, Meola G, Zappia M. Neurol Sci. 2016 May 25. 
 
Prevalence of neoplasms in definite and probable mitochondrial disorders.
Finsterer J, Frank M. Mitochondrion. 2016 May 13.
 
Genome therapy of myotonic dystrophy type 1 iPS cells for development of autologous stem cell therapy.
Gao Y, Guo X, Santostefano K, Wang Y, Reid T, Zeng D, Terada N, Ashizawa T, Xia G. Mol Ther. 2016 May 12. 
 
Relationship between muscle impairments, postural stability, and gait parameters assessed with lower-trunk accelerometry in myotonic dystrophy type 1.
Bachasson D, Moraux A, Ollivier G, Decostre V, Ledoux I, Gidaro T, Servais L, Behin A, Stojkovic T, Hébert LJ, Puymirat J, Eymard B, Bassez G, Hogrel JY. Neuromuscul Disord. 2016 May 12.
 
Pigmented Silk Nanofibrous Composite for Skeletal Muscle Tissue Engineering.
Manchineella S, Thrivikraman G, Khanum KK, Ramamurthy PC, Basu B, Govindaraju T. Adv Healthc Mater. 2016 May 5.
 
"I Know that You Know that I Know": Neural Substrates Associated with Social Cognition Deficits in DM1 Patients.
Serra L, Cercignani M, Bruschini M, Cipolotti L, Mancini M, Silvestri G, Petrucci A, Bucci E, Antonini G, Licchelli L, Spanò B, Giacanelli M, Caltagirone C, Meola G, Bozzali M. PLoS One. 2016 Jun 3.
 
Multidimensional aspects of pain in myotonic dystrophies.
Peric M, Peric S, Rapajic N, Dobricic V, Savic-Pavicevic D, Nesic I, Radojicic S, Novakovic I, Lavrnic D, Rakocevic-Stojanovic V. Acta Myol. 2015 Dec 2.
 
Choudhary P, Nandakumar R, Greig H, Broadhurst P, Dean J, Puranik R, Celermajer DS, Hillis GS. Heart. 2016 May 10. [Epub ahead of print]
 
Costales MG, Rzuczek SG, Disney MD. Bioorg Med Chem Lett. 2016 Jun 1.
 
Xu Y, Halievski K, Henley C, Atchison WD, Katsuno M, Adachi H, Sobue G, Breedlove SM, Jordan CL. J Neurosci. 2016 May 4.
 
Phenylbutazone induces expression of MBNL1 and suppresses formation of MBNL1-CUG RNA foci in a mouse model of myotonic dystrophy.
Chen G, Masuda A, Konishi H, Ohkawara B, Ito M, Kinoshita M, Kiyama H, Matsuura T, Ohno K. Sci Rep. 2016 Apr 29.
Characterization of sarcoplasmic reticulum Ca(2+) ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy. 
Guglielmi V, Oosterhof A, Voermans NC, Cardani R, Molenaar JP, van Kuppevelt TH, Meola G, van Engelen BG, Tomelleri G, Vattemi G. Neuromuscul Disord. 2016 Apr 6.
 
No relevant excess prevalence of myotonic dystrophy type 2 in patients with suspected fibromyalgia syndrome.
van Vliet J, Verrips A, Tieleman AA, Scheffer H, Cats HA, den Broeder AA, van Engelen BG. Neuromuscul Disord. 2016 Apr 6.
 
Myotonic disorders: A review article.
Hahn C, Salajegheh MK. Iran J Neurol. 2016 Jan 5. Review.
 
Ethical and Genetic Aspects Regarding Presymptomatic Testing for Neurodegenerative Diseases. 
Cozaru GC, Aşchie M, Mitroi AF, Poinăreanu I, Gorduza EV. Rev Med Chir Soc Med Nat Iasi. 2016 Jan-Mar.
 
 
Educational and Professional Qualifications of Adults With Myotonic Dystrophies - A Misleading Perception by the Myopathic Face?
Stahl K, Wenninger S, Schüller A, Montagnese F, Schoser B. Fortschr Neurol Psychiatr. 2016 Apr.
 
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 Apr 15.
 
A Population-based survey of risk for cancer in individuals diagnosed with myotonic dystrophy. 
Abbott D, Johnson NE, Cannon-Albright LA. Muscle Nerve. 2016 Apr 11.
 
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy.
Freyermuth F, Rau F, Kokunai Y, Linke T, Sellier C, Nakamori M, Kino Y, Arandel L, Jollet A, Thibault C, Philipps M, Vicaire S, Jost B, Udd B, Day JW, Duboc D, Wahbi K, Matsumura T, Fujimura H, Mochizuki H, Deryckere F, Kimura T, Nukina N, Ishiura S, Lacroix V, Campan-Fournier A, Navratil V, Chautard E, Auboeuf D, Horie M, Imoto K, Lee KY, Swanson MS, Lopez de Munain A, Inada S, Itoh H, Nakazawa K, Ashihara T, Wang E, Zimmer T, Furling D, Takahashi MP, Charlet-Berguerand N. Nat Commun. 2016 Apr 11.
 
Myotonic dystrophy type 1: frequency of ophthalmologic findings.
Ikeda KS, Iwabe-Marchese C, França MC Jr, Nucci A, Carvalho KM. Arq Neuropsiquiatr. 2016 Mar.
 
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.
 
Variable genetic penetrance of myotonic dystrophy following the diagnosis of idiopathic polyhydramnios.
Güler B, Kılıç SH, Kızıltan MY. Int J Gynaecol Obstet. 2016 Mar 9.
 
Staufen1 Impairs Stress Granule Formation in Skeletal Muscle Cells from Myotonic Dystrophy type 1 Patients.
Ravel-Chapuis A, Gunnewiek AK, Bélanger G, Parks TE, Côté J, Jasmin BJ. Mol Biol Cell. 2016 Mar 30. 
 
Overweight Is an Independent Risk Factor for Reduced Lung Volumes in Myotonic Dystrophy Type 1.
Seijger CG, Drost G, Posma JM, van Engelen BG, Heijdra YF. PLoS One. 2016 Mar 25.
 
On the Applicability of Elastic Network Models for the Study of RNA CUG Trinucleotide Repeat Overexpansion.
González ÀL, Teixidó J, Borrell JI, Estrada-Tejedor R. PLoS One. 2016 Mar 24
 
Knowledge of Sub-Types Important to Understanding of the Prevalence of Myotonic Dystrophy. 
Theadom A, Rodrigues M, Roxburgh R. Neuroepidemiology. Epub 2016 Mar 15.
 
Myotonic dystrophy type 1 presenting with asymmetric winged scapula. 
Alsharabati M, Erol F, Bayoumi M, Oh SJ. Muscle Nerve. 2016 Mar 11. 
 
A trigger-happy soldier with bilateral ptosis and dysphagia.
Ahmad FM, Hari Kumar KV. Biomed J. 2016 Mar 10. 
 
Restricting calcium currents is required for correct fiber type specification in skeletal muscle. 
Sultana N, Dienes B, Benedetti A, Tuluc P, Szentesi P, Sztretye M, Rainer J,Hess MW, Schwarzer C, Obermair GJ, Csernoch L, Flucher BE. Development. 2016 Mar 10. 
 
Diagnostic support for selected neuromuscular diseases using answer-pattern recognition and data mining techniques: a proof of concept multicenter prospective trial.
Grigull L, Lechner W, Petri S, Kollewe K, Dengler R, Mehmecke S, Schumacher U, Lücke T, Schneider-Gold C, Köhler C, Güttsches AK, Kortum X, Klawonn F. BMC Med Inform Decis Mak. 2016 Mar 8.
 
 
Sleep in Neuromuscular Diseases. 
Fermin AM, Afzal U, Culebras A. Sleep Med Clin. 2016 Mar. Epub 2016 Jan 9.
 
 
 
 
 
Six Serum miRNAs Fail to Validate as Myotonic Dystrophy Type 1 Biomarkers.
Fernandez-Costa JM, Llamusi B, Bargiela A, Zulaica M, Alvarez-Abril MC, Perez-Alonso M, Lopez de Munain A, Lopez-Castel A, Artero R. PLoS One. 2016 Feb 26. 
 
TWEAK Regulates Muscle Functions in a Mouse Model of RNA Toxicity.
Yadava RS, Foff EP, Yu Q, Gladman JT, Zheng TS, Mahadevan MS. PLoS One. 2016 Feb 22.
 
Myotonic Dystrophy Type 1 with Syringomyelia in a Young Patient.
Yu XL, Jia RZ, Shan PY, Yan CZ, Liu AF. Chin Med J (Engl). 2016 Feb 20.
 
Reliable and versatile immortal muscle cell models from healthy and myotonic dystrophy type 1 primary human myoblasts.
Pantic B, Borgia D, Giunco S, Malena A, Kiyono T, Salvatori S, De Rossi A, Giardina E, Sangiuolo F, Pegoraro E, Vergani L, Botta A. Exp Cell Res. 2016 Feb 19. 
 
An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy.
Vanacore N, Rastelli E, Antonini G, Bianchi ML, Botta A, Bucci E, Casali C, Costanzi-Porrini S, Giacanelli M, Gibellini M, Modoni A, Novelli G, Pennisi EM, Petrucci A, Piantadosi C, Silvestri G, Terracciano C, Massa R. Neuroepidemiology. 2016 Feb 17.
 
A low absolute number of expanded transcripts is involved in myotonic dystrophy type 1 manifestation in muscle.
Gudde AE, González-Barriga A, van den Broek WJ, Wieringa B, Wansink DG. Hum Mol Genet. 2016 Feb 16.
 
Muscleblind-like 1 suppresses breast cancer metastatic colonization and stabilizes metastasis suppressor transcripts.
Fish L, Pencheva N, Goodarzi H, Tran H, Yoshida M, Tavazoie SF. Genes Dev. 2016 Feb 15.
 
 
Jones K, Pitceathly RD, Rose MR, McGowan S, Hill M, Badrising UA, Hughes T. Cochrane Database Syst Rev. 2016 Feb 9. [Epub ahead of print] Review.
 
Dogan C, De Antonio M, Hamroun D, Varet H, Fabbro M, Rougier F, Amarof K, Arne Bes MC, Bedat-Millet AL, Behin A, Bellance R, Bouhour F, Boutte C, Boyer F, Campana-Salort E, Chapon F, Cintas P, Desnuelle C, Deschamps R, Drouin-Garraud V, Ferrer X, Gervais-Bernard H, Ghorab K, Laforet P, Magot A, Magy L, Menard D, Minot MC, Nadaj-Pakleza A, Pellieux S, Pereon Y, Preudhomme M, Pouget J, Sacconi S, Sole G, Stojkovich T, Tiffreau V, Urtizberea A, Vial C, Zagnoli F, Caranhac G, Bourlier C, Riviere G, Geille A, Gherardi RK, Eymard B, Puymirat J, Katsahian S, Bassez G. PLoS One. 2016 Feb 5.
 
Major involvement of trunk muscles in myotonic dystrophy type 1.
Solbakken G, Ørstavik K, Hagen T, Dietrichs E, Naerland T. Acta Neurol Scand. 2016 Feb 1.
 
Impairment of Odor Recognition in Myotonic Dystrophy Type 1.
Masaoka Y. Brain Nerve. 2016 Feb. Japanese.
 
Social Cognitive Impairment in Myotonic Dystrophy Type 1.
Kobayakawa M. Brain Nerve. 2016 Feb. Japanese. 
 
Clinical Importance of Central Nervous System Dysfunction in Myopathy.
Matsumura T. Brain Nerve. 2016 Feb. Japanese.
 
Comparison of temporal and stride characteristics in myotonic dystrophies type 1 and 2 during dual-task walking. 
Radovanović S, Perić S, Savić-Pavićević D, Dobričić V, Pešović J, Kostić V, Rakočević-Stojanović V. Gait Posture. 2016 Feb. Epub 2015 Dec 20.
 
 
Zhang BW, Cai HF, Wei XF, Sun JJ, Lan XY, Lei CZ, Lin FP, Qi XL, Plath M, Chen H. Int J Mol Sci. 2016 Jan 29.
Bondy-Chorney E, Crawford Parks TE, Ravel-Chapuis A, Klinck R, Rocheleau L, Pelchat M, Chabot B, Jasmin BJ, Côté J. PLoS Genet. 2016 Jan 29.
 
Nikolić-Kokić A, Marinković D, Perić S, Stević Z, Spasić MB, Blagojević D, Rakočević-Stojanović V. Redox Rep. 2016 Jan 28.
 
Choi SH, Yang HK, Hwang JM, Park KS. Graefes Arch Clin Exp Ophthalmol. 2016 Jan 27.
 
 
Russo V, Rago A, Nigro G. Int J Cardiol. 2016 Jan 13.
 
In vivo assessment of muscle membrane properties in myotonic dystrophy.
Tan SV, Z'Graggen WJ, Boërio D, Turner C, Hanna MG, Bostock H. Muscle Nerve. 2016 Jan 20. 
 
 
Actinomycin D Specifically Reduces Expanded CUG Repeat RNA in Myotonic Dystrophy Models.
Siboni RB, Nakamori M, Wagner SD, Struck AJ, Coonrod LA, Harriott SA, Cass DM, Tanner MK, Berglund JA. Cell Rep. 2015 Dec 22.
 
Safety of ustekinumab for the treatment of psoriasis vulgaris with myotonic dystrophy.
Fujita Y, Shinkuma S, Nomura T, Shimizu H. Eur J Dermatol. 2015 Dec 5.
 
 
 
Vital Capacity Impairment due to Neuromuscular Disease and its Correlation with Diaphragmatic Ultrasound: A Preliminary Study.
Carrié C, Bonnardel E, Vally R, Revel P, Marthan R, Biais M. Ultrasound Med Biol. 2015 Nov 24.
 
Undiagnosed myotonic dystrophy type 1 in a patient with synchronous thymoma and thyroid cancer.
Gómez Hernández MT, Martín Posadas MT, García Sánchez MD. Arch Bronconeumol. 2015 Nov 23. 
 
RNA FISH for detecting expanded repeats in human diseases.
Urbanek MO, Krzyzosiak WJ. Methods. 2015 Nov 23. 
 
Atrial electromechanical delay in myotonic dystrophy type 1 patients.
Russo V, Di Meo F, Rago A, Nigro G. Eur Rev Med Pharmacol Sci. 2015 Nov 19. 
 
Patient-Reported Impact of Symptoms in Myotonic Dystrophy Type 2 (PRISM-2).
Heatwole C, Johnson N, Bode R, Dekdebrun J, Dilek N, Hilbert JE, Luebbe E, Martens W, McDermott MP, Quinn C, Rothrock N, Thornton C, Vickrey BG, Victorson D, Moxley RT 3rd. Neurology. 2015 Nov 18.
 
Percutaneous nephrolithotomy in prone position in patients with spinal deformities.
Izol V, Aridogan IA, Borekoglu A, Gokalp F, Hatipoglu Z, Bayazit Y, Zeren S. Int J Clin Exp Med. 2015 Nov 15.
 
Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions.
Ho G, Cardamone M, Farrar M. World J Clin Pediatr. 2015 Nov 8. 
 
Choline Kinase Beta-Related Muscular Dystrophy, Appearance of Muscle Involvement on Magnetic Resonance Imaging.
De Goede C, Oh T, Joseph J, Muntoni F, Sewry C, Phadke R. Pediatr Neurol. 2015 Nov 5
 
Clinical, pathological and genetic characteristics of a pedigree with myotonic dystrophy type 1.
Liu Q, Zheng YF, Zhu YP, Ling SQ, Li WR. Exp Ther Med. 2015 Nov 10(5):1931-1936. Epub 2015 Sep 9.
 
Rypniewski W, Banaszak K, Kuliński T, Kiliszek A. RNA. 2015 Nov 5. 
 
Schara U. Dev Med Child Neurol. 2015 Nov 4. 
 
Laustriat D, Gide J, Barrault L, Chautard E, Benoit C, Auboeuf D, Boland A, Battail C, Artiguenave F, Deleuze JF, Bénit P, Rustin P, Franc S, Charpentier G, Furling D, Bassez G, Nissan X, Martinat C, Peschanski M, Baghdoyan S. Mol Ther Nucleic Acids. 2015 Nov 3.
 
Sudden cardiac death in neuromuscular disorders.
Finsterer J, Stöllberger C, Maeztu C. Int J Cardiol. 2015 Oct 28.
 
Cocco L, Manzoli L, Faenza I, Ramazzotti G, Yang YR, McCubrey JA, Suh PG, Follo MY. Adv Biol Regul. 2015 Oct 26. 
 
Reconstructing the Rasch-Built Myotonic Dystrophy Type 1 Activity and Participation Scale.
Herman MC, Hoeijmakers JG, Faber CG, Merkies IS. PLoS One. 2015 Oct 20. 
 
Tibialis anterior muscle needle biopsy and sensitive biomolecular methods: a useful tool in myotonic dystrophy type 1.
Iachettini S, Valaperta R, Marchesi A, Perfetti A, Cuomo G, Fossati B, Vaienti L, Costa E, Meola G, Cardani R. Eur J Histochem. 2015 Oct 26.
Case Records of the Massachusetts General Hospital. Case 30-2015: A 50-Year-Old Man with Cardiogenic Shock.
Wheeler TM, Baker JN, Chad DA, Zilinski JL, Verzosa S, Mordes DA. N Engl J Med. 2015 Sep 24. 
 
Guo P, Lam SL. FEBS Lett. 2015 Sep 16. 
 
Brent V, Disney MD. Neuron. 2015 Jul 1. 
 
 
Cooperation Meets Competition in MicroRNA-Mediated DMPK Transcript Regulation.
Koscianska E, Krzyzosiak WJ, et. al. Nucleic Acids Res. 2015 Aug 24. 
 
Prevalence and Correlates of Apathy in Myotonic Dystrophy Type 1.
Gallais B, Laberge L, et. al. BMC Neurol. 2015 Aug 22.
 
Workshop Report: Consensus on Biomarkers of Cerebral Involvmenet in Myotonic Dystrophy.
Bosco G, Meola G, et. al. Neuromuscular Disord. 2015 Aug. 4.
 
 
 
 
 
Congenital Myotonic Dystrophy Type 1 in a Very Premature Neonate: Ethical Concerns.
Van Den Hende K, Cambonie G, et. al. Arch Pediatr. 2015 Aug 25.
 
Finsterer J, Rudnik-Schöneborn S. Fortschr Neurol Psychiatr. 2015 Jan. 

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