Skip to content

Research & Literature

Last updated:

Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.

Explore the Literature

Visualize citation networks across 92 referenced papers

Top Authors

Top Institutions

References

  1. 1

    Sleep-Wake Cycle and Daytime Sleepiness in the Myotonic Dystrophies.

    Romigi A, Albanese M, Liguori C, et al.

    Journal of neurodegenerative diseases 2013; (2013()):692026 doi:10.1155/2013/692026.

    PMID: 26316996
  2. 2

    Myotonic disorders: A review article.

    Hahn C, Salajegheh MK

    Iranian journal of neurology 2016; (15(1)):46-53.

    PMID: 27141276
  3. 3

    Multidimensional aspects of pain in myotonic dystrophies.

    Peric M, Peric S, Rapajic N, et al.

    Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2015; (34(2-3)):126-32.

    PMID: 27199540
  4. 4

    Two cases of myotonic dystrophy manifesting various ophthalmic findings with genetic evaluation.

    Kang MJ, Yim HB, Hwang HB

    Indian journal of ophthalmology 2016; (64(7)):535-7 doi:10.4103/0301-4738.190157.

    PMID: 27609169
  5. 5

    Myotonic Dystrophy Type 2: An Update on Clinical Aspects, Genetic and Pathomolecular Mechanism.

    Meola G, Cardani R

    Journal of neuromuscular diseases 2015; (2(s2)):S59-S71 doi:10.3233/JND-150088.

    PMID: 27858759
  6. 6

    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, et al.

    Molecular therapy : the journal of the American Society of Gene Therapy 2017; (25(1)):24-43 doi:10.1016/j.ymthe.2016.10.014.

    PMID: 28129118
  7. 7

    Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene.

    Palmio J, Sandell S, Hanna MG, et al.

    Neurology 2017; (88(16)):1520-1527 doi:10.1212/WNL.0000000000003846.

    PMID: 28330959
  8. 8

    Hard ways towards adulthood: the transition phase in young people with myotonic dystrophy.

    Baldanzi S, Ricci G, Simoncini C, et al.

    Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2016; (35(3)):145-149.

    PMID: 28484315
  9. 9

    Marathoning with myotonic dystrophy type 2 (proximal myotonic myopathy) and leukopenia.

    Finsterer J, Safoschnik G, Witsch-Baumgartner M

    SAGE open medical case reports 2017; (5()):2050313X17703021 doi:10.1177/2050313X17703021.

    PMID: 28491317
  10. 10

    Myotonic Dystrophy Type 1 Clinical, Electrophysiological and Molecular Characterization: Experience at Tertiary Care Centre.

    Khadilkar S, Jagiasi K, Yadav J, et al.

    The Journal of the Association of Physicians of India 2017; (65(6)):32-37.

    PMID: 28782311
  11. 11

    High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2.

    Hilbert JE, Barohn RJ, Clemens PR, et al.

    Neurology 2017; (89(13)):1348-1354 doi:10.1212/WNL.0000000000004420.

    PMID: 28855409
  12. 12

    Myotonic dystrophy type 1 with diabetes mellitus, mixed hypogonadism and adrenal insufficiency.

    Takeshima K, Ariyasu H, Ishibashi T, et al.

    Endocrinology, diabetes & metabolism case reports 2018; (2018()) doi:10.1530/EDM-17-0143.

    PMID: 29367875
  13. 13

    Qualitative and Quantitative Aspects of Pain in Patients With Myotonic Dystrophy Type 2.

    van Vliet J, Tieleman AA, Verrips A, et al.

    The journal of pain 2018; (19(8)):920-930 doi:10.1016/j.jpain.2018.03.006.

    PMID: 29601898
  14. 14

    Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism.

    Tomé S, Dandelot E, Dogan C, et al.

    Human mutation 2018; (39(7)):970-982 doi:10.1002/humu.23531.

    PMID: 29664219
  15. 15

    Improved mobility with metformin in patients with myotonic dystrophy type 1: a randomized controlled trial.

    Bassez G, Audureau E, Hogrel JY, et al.

    Brain : a journal of neurology 2018; (141(10)):2855-2865 doi:10.1093/brain/awy231.

    PMID: 30169600
  16. 16

    Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.

    Wood L, Bassez G, Bleyenheuft C, et al.

    Orphanet journal of rare diseases 2018; (13(1)):155 doi:10.1186/s13023-018-0889-0.

    PMID: 30185236
  17. 17

    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.

    PMID: 30341596
  18. 18

    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. 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. 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.

    PMID: 30628727
  21. 21

    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. 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. 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.

    PMID: 30898523
  24. 24

    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.

    PMID: 30984523
  25. 25

    Diabetic Gastroparesis.

    Bharucha AE, Kudva YC, Prichard DO

    Endocrine reviews 2019; (40(5)):1318-1352 doi:10.1210/er.2018-00161.

    PMID: 31081877
  26. 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.

    PMID: 31316546
  27. 27

    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.

    PMID: 31520483
  28. 28

    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.

    PMID: 31540818
  29. 29

    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.

    PMID: 31681146
  30. 30

    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.

    PMID: 31936870
  31. 31

    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.

    PMID: 31970692
  32. 32

    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.

    PMID: 32003065
  33. 33

    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.

    PMID: 32074227
  34. 34

    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.

    PMID: 32242217
  35. 35

    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.

    PMID: 32299079
  36. 36

    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. 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.

    PMID: 32525073
  38. 38

    [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.

    PMID: 32646725
  39. 39

    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.

    PMID: 32651874
  40. 40

    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.

    PMID: 32732524
  41. 41

    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.

    PMID: 33171139
  42. 42

    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.

    PMID: 33458578
  43. 43

    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.

    PMID: 33595997
  44. 44

    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.

    PMID: 33624941
  45. 45

    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.

    PMID: 33652465
  46. 46

    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.

    PMID: 33798646
  47. 47

    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.

    PMID: 34170223
  48. 48

    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. 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. 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. 51

    Myotonic Dystrophies: A Genetic Overview.

    Soltanzadeh P

    Genes 2022; (13(2)) doi:10.3390/genes13020367.

    PMID: 35205411
  52. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 62

    Myotonic Dystrophy.

    Hamel JI

    Continuum (Minneapolis, Minn.) 2022; (28(6)):1715-1734 doi:10.1212/CON.0000000000001184.

    PMID: 36537977
  63. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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.

    Neuromuscular disorders : NMD 2025; (47()):105255 doi:10.1016/j.nmd.2024.105255.

    PMID: 39708548
  82. 82

    FORCE platform overcomes barriers of oligonucleotide delivery to muscle and corrects myotonic dystrophy features in preclinical models.

    Weeden T, Picariello T, Quinn B, et al.

    Communications medicine 2025; (5(1)):22 doi:10.1038/s43856-025-00733-w.

    PMID: 39827287
  83. 83

    Evaluation of professional practices in the use of mexiletine for the management of childhood myotonia in French pediatric neuromuscular centers (MEXI-PEDI survey).

    Barrière S, Manel V, Barnerias C, et al.

    Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2025; (32(2)):107-113 doi:10.1016/j.arcped.2024.10.009.

    PMID: 39875220
  84. 84

    International collaboration to improve knowledge on myotonic dystrophy type 2.

    Peric S, Ivanovic V, Ashley EJ, et al.

    Journal of neuromuscular diseases 2024; (11(6)):1229-1237 doi:10.1177/22143602241290353.

    PMID: 39973464
  85. 85

    Sudden Death Caused by Bilateral Diaphragmatic Eventration in Myotonic Dystrophy Type 1.

    Wu S, Prahlow JA

    The American journal of forensic medicine and pathology 2025; (46(4)):330-336 doi:10.1097/PAF.0000000000001073.

    PMID: 40928346
  86. 86

    Adherence to Non-Invasive Ventilation in Steinert Disease: Clinical and Psychological Insights.

    Annunziata A, Simioli F, Polistina GE, et al.

    Brain sciences 2025; (15(9)) doi:10.3390/brainsci15090968.

    PMID: 41008328
  87. 87

    Therapeutic advances in type 1 myotonic dystrophy complicated with type 2 diabetes mellitus.

    Luo L, Zhu C, Yang S, et al.

    Frontiers in neurology 2025; (16()):1640563 doi:10.3389/fneur.2025.1640563.

    PMID: 41018201
  88. 88

    Balanced Translocations Involving the DMD Gene as a Cause of Muscular Dystrophy in Female Children: A Description of Three Cases.

    Vorontsova EO, Murtazina A, Zinina E, et al.

    International journal of molecular sciences 2025; (26(19)) doi:10.3390/ijms26199389.

    PMID: 41096657
  89. 89

    Physiology of Abnormal Muscle Fiber Generators.

    Dumitru D, Nandedkar SD, Barkhaus PE

    Muscle & nerve 2026; (73(1)):7-27 doi:10.1002/mus.70035.

    PMID: 41170697
  90. 90

    Health-related quality of life, pain, and fatigue in myotonic dystrophy type 2: a 13-year follow-up study.

    Damen MJ, Mul K, van Engelen BGM, et al.

    Disability and rehabilitation 2025; 1-8 doi:10.1080/09638288.2025.2571068.

    PMID: 41173243
  91. 91

    Potential pitfalls in the differential diagnosis of myositis versus hereditary myopathies.

    Glaubitz S, Zeng R, Hasanov K, et al.

    Clinical and experimental rheumatology 2026; (44(2)):304-312 doi:10.55563/clinexprheumatol/pqmby3.

    PMID: 41678169
  92. 92

    An Antibody-Oligonucleotide Conjugate for Myotonic Dystrophy Type 1.

    Johnson NE, Tai LJ, Hamel JI, et al.

    The New England journal of medicine 2026; (394(8)):763-772 doi:10.1056/NEJMoa2407326.

    PMID: 41707138