Research & Literature
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Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.
Visualize citation networks across 92 referenced papers
Top Authors
- Adil E. Bharucha Mayo Clinic
- Jasmanda H. Wu Sanofi (United States)
- Larry Bauer Association of Maternal and Child Health Programs
- Yogish C. Kudva Mayo Clinic
- David O. Prichard Mayo Clinic in Florida
- G. Meola University of Milan
- Barend Mons Netherlands eScience Center
- Mark D. Wilkinson Centre for Plant Biotechnology and Genomics
- Guillaume Bassez Pitié-Salpêtrière Hospital
- Rubén Artero Centro de Investigacion Principe Felipe
Top Institutions
- Inserm Paris, France Geneviève Gourdon , Annarita Miccio , Sandrine Baghdoyan , Karim Wahbi , Cécile Martinat , Giulia Pavani , Fernande Freyermuth , Bertrand Fontaine , David Orlikowski , Mário Gomes‐Pereira
- UK Dementia Research Institute London, United Kingdom Vincent Dion , Céline Dogan , Sarah J. Tabrizi , Juliane Dittrich , Ingemar S. J. Merkies , Michael Flower , Davina J. Hensman Moss , Lisa Minier , Adrian M. Isaacs , Baptiste Lignier
- Mayo Clinic Rochester, United States Adil E. Bharucha , Yogish C. Kudva , Michael Camilleri , Magnus Halland , Gianluca Cipriani , Margherita Milone , Revati Varma , Eric D. Wieben , Alan R. Zinsmeister , Mohamed Kazamel
- University of Belgrade Belgrade, Serbia Stojan Perić , Vidosava Rakočević-Stojanović , Dušanka Savić‐Pavićević , Jovan Pešović , Ivo Božović , Ivana Novaković , Teodora Paunic , Vukan Ivanović , Aleksandra Pavlović , Zorica Stević
- Harvard University Cambridge, United States J. Keith Joung , Christopher N Hahn , Heidi L. Rehm , James Luccarelli , Amy J. Wagers , Ningyan Hu , Vanessa C. Wheeler , George M. Church , Isidro Cortés‐Ciriano , Silvia Velasco
- University of California San Diego San Diego, United States G Yeo , Kathryn H. Morelli , Ranjan Batra , Don W. Cleveland , Chamindra G. Laverty , Eric L. Van Nostrand , Alysson R. Muotri , Michael J. Ang , Natalie A. Afshari , Ofer Shoshani
- University of Oxford Oxford, United Kingdom Thomas C. Roberts , Matthew J. A. Wood , Miguel A. Varela , Britt Hanson , Seren Marsh , Jessica Stoodley , Chun‐Xiao Song , Suzan M. Hammond , Alyssa C. Hill , Carlo Rinaldi
- University of Florida Gainesville, United States Eric T. Wang , Maurice S. Swanson , Łukasz J. Sznajder , Jana R. Jenquin , Tao Zu , Donovan J. Lott , Lien Nguyen , Brittney A. Otero , Mónica Báñez-Coronel , Alison M. Barnard
- Radboud University Nijmegen Nijmegen, The Netherlands Bé Wieringa , Alide A. Tieleman , Judith van Vliet , Manon J. Damen , Laurène M. André , Karlien Mul , Marieke Willemse , C. Rosanne M. Ausems , Bianca GJ van der Velden , Yvonne F. Heijdra
- Ionis Pharmaceuticals (United States) Carlsbad, United States C. Frank Bennett , Richard S. Geary , Stanley T. Crooke , Xue‐hai Liang , Rosie Z. Yu , Sanjay K. Pandey , Yanfeng Wang , A. Robert MacLeod , Punit P. Seth , Daniel A. Norris
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Two cases of myotonic dystrophy manifesting various ophthalmic findings with genetic evaluation.
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Myotonic dystrophy type 1 with diabetes mellitus, mixed hypogonadism and adrenal insufficiency.
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Qualitative and Quantitative Aspects of Pain in Patients With Myotonic Dystrophy Type 2.
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The journal of pain 2018; (19(8)):920-930 doi:10.1016/j.jpain.2018.03.006.
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Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism.
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Improved mobility with metformin in patients with myotonic dystrophy type 1: a randomized controlled trial.
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Brain : a journal of neurology 2018; (141(10)):2855-2865 doi:10.1093/brain/awy231.
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Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.
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Orphanet journal of rare diseases 2018; (13(1)):155 doi:10.1186/s13023-018-0889-0.
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Myotonic Dystrophies: Targeting Therapies for Multisystem Disease.
LoRusso S, Weiner B, Arnold WD
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2018; (15(4)):872-884 doi:10.1007/s13311-018-00679-z.
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Differential Diagnosis between Duchenne Muscular Dystrophy and Limb Girdle Muscular Dystrophy 2a.
Dobrescu MA, Chelu G, Tache DE, et al.
Current health sciences journal 2015; (41(4)):385-389 doi:10.12865/CHSJ.41.04.15.
PMID: 30538847 - 19
Quantitative myotonia assessment with a commercially available dynamometer in myotonic dystrophy types 1 and 2.
Horáková M, Horák T, Parmová O, et al.
Muscle & nerve 2019; (59(4)):431-435 doi:10.1002/mus.26401.
PMID: 30575988 - 20
Chronic exercise mitigates disease mechanisms and improves muscle function in myotonic dystrophy type 1 mice.
Manta A, Stouth DW, Xhuti D, et al.
The Journal of physiology 2019; (597(5)):1361-1381 doi:10.1113/JP277123.
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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, et al.
Journal of the neurological sciences 2019; (399()):118-124 doi:10.1016/j.jns.2019.02.012.
PMID: 30798109 - 22
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 musculoskeletal disorders 2019; (20(1)):101 doi:10.1186/s12891-019-2458-7.
PMID: 30836978 - 23
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, et al.
Neuromuscular disorders : NMD 2019; (29(4)):302-309 doi:10.1016/j.nmd.2019.02.006.
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Myotonic Dystrophy-2: Unusual Phenotype Due to a Small CCTG-expansion.
J F, C S, A RF, et al.
Balkan journal of medical genetics : BJMG 2018; (21(2)):39-43 doi:10.2478/bjmg-2018-0024.
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Diabetic Gastroparesis.
Bharucha AE, Kudva YC, Prichard DO
Endocrine reviews 2019; (40(5)):1318-1352 doi:10.1210/er.2018-00161.
PMID: 31081877 - 26
Robust Preimplantation Genetic Testing Strategy for Myotonic Dystrophy Type 1 by Bidirectional Triplet-Primed Polymerase Chain Reaction Combined With Multi-microsatellite Haplotyping Following Whole-Genome Amplification.
Lian M, Lee CG, Chong SS
Frontiers in genetics 2019; (10()):589 doi:10.3389/fgene.2019.00589.
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Clinical and genetic characteristics of childhood-onset myotonic dystrophy.
Stokes M, Varughese N, Iannaccone S, Castro D
Muscle & nerve 2019; (60(6)):732-738 doi:10.1002/mus.26716.
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High incidence of falls in patients with myotonic dystrophy type 1 and 2: A prospective study.
Berends J, Tieleman AA, Horlings CGC, et al.
Neuromuscular disorders : NMD 2019; (29(10)):758-765 doi:10.1016/j.nmd.2019.08.012.
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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, et al.
Frontiers in neurology 2019; (10()):1071 doi:10.3389/fneur.2019.01071.
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DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies.
Tomé S, Gourdon G
International journal of molecular sciences 2020; (21(2)) doi:10.3390/ijms21020457.
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Patient Input to Inform the Development of Central Nervous System Outcome Measures in Myotonic Dystrophy.
White M
Therapeutic innovation & regulatory science 2020; (54(5)):1010-1017 doi:10.1007/s43441-020-00117-3.
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Use of real-world evidence in regulatory decisions for rare diseases in the United States-Current status and future directions.
Wu J, Wang C, Toh S, et al.
Pharmacoepidemiology and drug safety 2020; (29(10)):1213-1218 doi:10.1002/pds.4962.
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PREPUBERTAL GYNECOMASTIA: A RARE MANIFESTATION OF MYOTONIC DYSTROPHY TYPE 1.
Miranda PSF, Pereira EPMN, Barreto JSCB, et al.
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo 2020; (38()):e2018294 doi:10.1590/1984-0462/2020/38/2018294.
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Systemic therapy in an RNA toxicity mouse model with an antisense oligonucleotide therapy targeting a non-CUG sequence within the DMPK 3'UTR RNA.
Yadava RS, Yu Q, Mandal M, et al.
Human molecular genetics 2020; (29(9)):1440-1453 doi:10.1093/hmg/ddaa060.
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Consensus-Based Care Recommendations for Pulmonologists Treating Adults with Myotonic Dystrophy Type 1.
Boentert M, Cao M, Mass D, et al.
Respiration; international review of thoracic diseases 2020; (99(4)):360-368 doi:10.1159/000505634.
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Multisystemic Impairments in 93 Chinese Patients With Myotonic Dystrophy Type 1.
Li M, Wang Z, Cui F, et al.
Frontiers in neurology 2020; (11()):277 doi:10.3389/fneur.2020.00277.
PMID: 32373051 - 37
Evaluation of mexiletine effect on conduction delay and bradyarrhythmic complications in patients with myotonic dystrophy type 1 over long-term follow-up.
Vio R, Zorzi A, Bello L, et al.
Heart rhythm 2020; (17(11)):1944-1950 doi:10.1016/j.hrthm.2020.05.043.
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[Adult myotonic dystrophy type 1: an update].
Rosado-Bartolomé A, Gutiérrez-Gutiérrez G, Prieto-Matos J
Semergen 2020; (46(5)):355-362 doi:10.1016/j.semerg.2020.01.002.
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Predictors of respiratory decline in myotonic dystrophy type 1 (DM1): a longitudinal cohort study.
Mazzoli M, Ariatti A, Garuti G, et al.
Acta neurologica Belgica 2021; (121(1)):133-142 doi:10.1007/s13760-020-01425-z.
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A Case of Myotonic Dystrophy Type I With Rimmed Vacuoles in Skeletal Muscle Pathology.
Ban R, Zhang Y, Li K, Shi Q
Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases 2021; (27(8S)):S771-S772 doi:10.1097/RHU.0000000000001496.
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Application of CRISPR-Cas9-Mediated Genome Editing for the Treatment of Myotonic Dystrophy Type 1.
Marsh S, Hanson B, Wood MJA, et al.
Molecular therapy : the journal of the American Society of Gene Therapy 2020; (28(12)):2527-2539 doi:10.1016/j.ymthe.2020.10.005.
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Myotonic dystrophy type 2: the 2020 update.
Meola G
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2020; (39(4)):222-234 doi:10.36185/2532-1900-026.
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Myotonic Muscular Dystrophy Type 2 in CT, USA: A Single-Center Experience With 50 Patients.
Roy B, Wu Q, Whitaker CH, Felice KJ
Journal of clinical neuromuscular disease 2021; (22(3)):135-146 doi:10.1097/CND.0000000000000340.
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High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis.
Butterfield RJ, Imburgia C, Mayne K, et al.
Molecular genetics & genomic medicine 2021; (9(4)):e1619 doi:10.1002/mgg3.1619.
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Neuropsychological Assessment Should Always be Considered in Myotonic Dystrophy Type 2.
Theodosiou T, Christidi F, Xirou S, et al.
Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology 2021; (34(1)):1-10 doi:10.1097/WNN.0000000000000263.
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Myotonic dystrophy type 1 drug development: A pipeline toward the market.
Pascual-Gilabert M, López-Castel A, Artero R
Drug discovery today 2021; (26(7)):1765-1772 doi:10.1016/j.drudis.2021.03.024.
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Assessment of self-reported and objective daytime sleepiness in adult-onset myotonic dystrophy type 1.
Sansone VA, Proserpio P, Mauro L, et al.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2021; (17(12)):2383-2391 doi:10.5664/jcsm.9438.
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Cognitive Deficits, Apathy, and Hypersomnolence Represent the Core Brain Symptoms of Adult-Onset Myotonic Dystrophy Type 1.
Miller JN, Kruger A, Moser DJ, et al.
Frontiers in neurology 2021; (12()):700796 doi:10.3389/fneur.2021.700796.
PMID: 34276551 - 49
Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia.
Locci S, Cardani R, Brunori P, et al.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021; (42(12)):5365-5368 doi:10.1007/s10072-021-05538-y.
PMID: 34386887 - 50
Cardiac Pathology in Myotonic Dystrophy Type 1.
Mahadevan MS, Yadava RS, Mandal M
International journal of molecular sciences 2021; (22(21)) doi:10.3390/ijms222111874.
PMID: 34769305 - 51
Myotonic Dystrophies: A Genetic Overview.
Soltanzadeh P
Genes 2022; (13(2)) doi:10.3390/genes13020367.
PMID: 35205411 - 52
Overview of the Complex Relationship between Epigenetics Markers, CTG Repeat Instability and Symptoms in Myotonic Dystrophy Type 1.
de Pontual L, Tomé S
International journal of molecular sciences 2022; (23(7)) doi:10.3390/ijms23073477.
PMID: 35408837 - 53
Molecular characterization of myotonic dystrophy fibroblast cell lines for use in small molecule screening.
Jenquin JR, O'Brien AP, Poukalov K, et al.
iScience 2022; (25(5)):104198 doi:10.1016/j.isci.2022.104198.
PMID: 35479399 - 54
Pharmacological and exercise-induced activation of AMPK as emerging therapies for myotonic dystrophy type 1 patients.
Ravel-Chapuis A, Duchesne E, Jasmin BJ
The Journal of physiology 2022; (600(14)):3249-3264 doi:10.1113/JP282725.
PMID: 35695045 - 55
Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort.
Brunet Garcia L, Hajra A, Field E, et al.
Frontiers in pediatrics 2022; (10()):910660 doi:10.3389/fped.2022.910660.
PMID: 35757141 - 56
MECP2-related pathways are dysregulated in a cortical organoid model of myotonic dystrophy.
Morelli KH, Jin W, Shathe S, et al.
Science translational medicine 2022; (14(651)):eabn2375 doi:10.1126/scitranslmed.abn2375.
PMID: 35767654 - 57
Milestones of progression in myotonic dystrophy type 1 and type 2.
Hamel JI, McDermott MP, Hilbert JE, et al.
Muscle & nerve 2022; (66(4)):508-512 doi:10.1002/mus.27674.
PMID: 35778789 - 58
Arrhythmic CArdiac DEath in MYotonic dystrophy type 1 patients (ACADEMY 1) study: the predictive role of programmed ventricular stimulation.
Russo V, Papa AA, Rago A, et al.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2022; (24(7)):1148-1155 doi:10.1093/europace/euab282.
PMID: 35861549 - 59
Executive Dysfunction, Social Cognition Impairment, and Gray Matter Pathology in Myotonic Dystrophy Type 2: A Pilot Study.
Theodosiou T, Christidi F, Xirou S, et al.
Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology 2022; (35(3)):204-211 doi:10.1097/WNN.0000000000000314.
PMID: 35867610 - 60
CRISPRthripsis: The Risk of CRISPR/Cas9-induced Chromothripsis in Gene Therapy.
Amendola M, Brusson M, Miccio A
Stem cells translational medicine 2022; (11(10)):1003-1009 doi:10.1093/stcltm/szac064.
PMID: 36048170 - 61
Complications After Dental Sedation: A Myotonic Mystery Case Report.
Karamlou M, Asaria I, Barron J, et al.
Anesthesia progress 2022; (69(4)):26-31 doi:10.2344/anpr-69-02-09.
PMID: 36534775 - 62
Myotonic Dystrophy.
Hamel JI
Continuum (Minneapolis, Minn.) 2022; (28(6)):1715-1734 doi:10.1212/CON.0000000000001184.
PMID: 36537977 - 63
A Greek National Cross-Sectional Study on Myotonic Dystrophies.
Papadimas GK, Papadopoulos C, Kekou K, et al.
International journal of molecular sciences 2022; (23(24)) doi:10.3390/ijms232415507.
PMID: 36555146 - 64
The myotonic dystrophy type 1 drug development pipeline: 2022 edition.
Pascual-Gilabert M, Artero R, López-Castel A
Drug discovery today 2023; (28(3)):103489 doi:10.1016/j.drudis.2023.103489.
PMID: 36634841 - 65
Fluid Biomarkers of Central Nervous System (CNS) Involvement in Myotonic Dystrophy Type 1 (DM1).
Rossi S, Silvestri G
International journal of molecular sciences 2023; (24(3)) doi:10.3390/ijms24032204.
PMID: 36768526 - 66
Sporadic Myotonic Dystrophy Type 2 in a Japanese Patient.
Miyashita K, Ii Y, Matsuyama H, et al.
Internal medicine (Tokyo, Japan) 2023; (62(20)):3027-3031 doi:10.2169/internalmedicine.0425-22.
PMID: 36792202 - 67
Vorinostat Improves Myotonic Dystrophy Type 1 Splicing Abnormalities in DM1 Muscle Cell Lines and Skeletal Muscle from a DM1 Mouse Model.
Neault N, Ravel-Chapuis A, Baird SD, et al.
International journal of molecular sciences 2023; (24(4)) doi:10.3390/ijms24043794.
PMID: 36835205 - 68
Managing thyroid cancer in Steinert's disease: the role of radiofrequency ablation.
Solis-Pazmino P, Carvajal MA, García M, et al.
Journal of surgical case reports 2023; (2023(6)):rjad381 doi:10.1093/jscr/rjad381.
PMID: 37397070 - 69
Resistance Exercise Training Rescues Mitochondrial Dysfunction in Skeletal Muscle of Patients with Myotonic Dystrophy Type 1.
Di Leo V, Lawless C, Roussel MP, et al.
Journal of neuromuscular diseases 2023; (10(6)):1111-1126 doi:10.3233/JND-230099.
PMID: 37638448 - 70
Impact of gastrointestinal and urological symptoms in children with myotonic dystrophy type 1.
Maagdenberg SJM, Klinkenberg S, Sophie van den Berg J, et al.
Neuromuscular disorders : NMD 2024; (35()):1-7 doi:10.1016/j.nmd.2023.12.011.
PMID: 38184901 - 71
Myotonic dystrophy type 1: palliative care guidelines.
Willis D, Willis T, Bassie C, et al.
BMJ supportive & palliative care 2024; doi:10.1136/spcare-2023-004748.
PMID: 38253488 - 72
Acetazolamide-responsive myotonia with a novel Ile239Thr mutation in SCN4A gene: a case report.
Yadav J, Barnwal R, Kumar Mandal S, Prajapati B
Annals of medicine and surgery (2012) 2024; (86(2)):1191-1195 doi:10.1097/MS9.0000000000001673.
PMID: 38333241 - 73
Natural history of cardiac involvement in myotonic dystrophy type 1 - Emphasis on the need for lifelong follow-up.
Petri H, Mohammad BJY, Kristensen AT, et al.
International journal of cardiology 2024; (406()):132070 doi:10.1016/j.ijcard.2024.132070.
PMID: 38643802 - 74
Expert opinion on mexiletine treatment in adult patients with myotonic dystrophy.
Wahbi K, Bassez G, Duchateau J, et al.
Archives of cardiovascular diseases 2024; (117(6-7)):450-456 doi:10.1016/j.acvd.2024.03.001.
PMID: 38677940 - 75
Generation of a lymphoblastoid-derived induced pluripotent stem cell line (CBRCULi015-A) from a patient with congenital myotonic dystrophy.
De Serres-Bérard T, Jauvin D, Pouliot V, et al.
Stem cell research 2024; (77()):103430 doi:10.1016/j.scr.2024.103430.
PMID: 38704930 - 76
Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Seifert BA, Reddi HV, Kang BE, et al.
Genetics in medicine : official journal of the American College of Medical Genetics 2024; (26(8)):101145 doi:10.1016/j.gim.2024.101145.
PMID: 38836869 - 77
Excessive daytime sleepiness in myotonic dystrophy: a narrative review.
Hoxhaj D, Pascazio A, Maestri M, et al.
Frontiers in neurology 2024; (15()):1389949 doi:10.3389/fneur.2024.1389949.
PMID: 39011358 - 78
Mexiletine versus lamotrigine in non-dystrophic myotonias: a randomised, double-blind, head-to-head, crossover, non-inferiority, phase 3 trial.
Vivekanandam V, Skorupinska I, Jayaseelan DL, et al.
The Lancet. Neurology 2024; (23(10)):1004-1012 doi:10.1016/S1474-4422(24)00320-X.
PMID: 39304240 - 79
Self-Assembled Antibody-Oligonucleotide Conjugates for Targeted Delivery of Complementary Antisense Oligonucleotides.
Zhou L, Bi J, Chang S, et al.
Angewandte Chemie (International ed. in English) 2025; (64(3)):e202415272 doi:10.1002/anie.202415272.
PMID: 39325927 - 80
Maternal health and obstetric complications of genetic neuromuscular disorders in pregnancy: A systematic review.
Ahmed HS, Teli A, Khullar K, Deepak BL
European journal of obstetrics, gynecology, and reproductive biology 2025; (304()):152-170 doi:10.1016/j.ejogrb.2024.11.046.
PMID: 39616806 - 81
Investigating phenotypic variability patterns in myotonic dystrophy type 2 in a neuromuscular referral center retrospective cohort.
Picher-Martel V, Locascio JJ, Chuang K, et al.
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