Research & Literature

Muscle wasting in myotonic dystrophies: a model of premature aging.

Mateos-Aierdi AJ, Goicoechea M, Aiastui A, et al.

Frontiers in aging neuroscience 2015; (7()):125 doi:10.3389/fnagi.2015.00125.

Treatment of sleep central apnea with non-invasive mechanical ventilation with 2 levels of positive pressure (bilevel) in a patient with myotonic dystrophy type 1.

Akamine RT, Grossklauss LF, Moreira GA, et al.

Sleep science (Sao Paulo, Brazil) 2014; (7(2)):117-21 doi:10.1016/j.slsci.2014.09.002.

Parent-reported multi-national study of the impact of congenital and childhood onset myotonic dystrophy.

Johnson NE, Ekstrom AB, Campbell C, et al.

Developmental medicine and child neurology 2016; (58(7)):698-705 doi:10.1111/dmcn.12948.

Clinical, pathological and genetic characteristics of a pedigree with myotonic dystrophy type 1.

Liu Q, Zheng YF, Zhu YP, et al.

Experimental and therapeutic medicine 2015; (10(5)):1931-1936 doi:10.3892/etm.2015.2738.

Molecular Diagnosis of Myotonic Dystrophy.

Chakraborty S, Vatta M, Bachinski LL, et al.

Current protocols in human genetics 2016; (91()):9.29.1-9.29.19 doi:10.1002/cphg.22.

Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles.

Botta A, Rossi G, Marcaurelio M, et al.

European journal of human genetics : EJHG 2017; (25(2)):257-261 doi:10.1038/ejhg.2016.148.

Sleepiness and Sleep-related Breathing Disorders in Myotonic Dystrophy and Responses to Treatment: A Prospective Cohort Study.

West SD, Lochmüller H, Hughes J, et al.

Journal of neuromuscular diseases 2016; (3(4)):529-537 doi:10.3233/JND-160191.

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, et al.

European heart journal 2017; (38(10)):751-758 doi:10.1093/eurheartj/ehw569.

Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects.

Meola G, Cardani R

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2017; (38(4)):535-546 doi:10.1007/s10072-016-2805-5.

CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.

Barbé L, Lanni S, López-Castel A, et al.

American journal of human genetics 2017; (100(3)):488-505 doi:10.1016/j.ajhg.2017.01.033.

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 medicine 2017; (32()):92-96 doi:10.1016/j.sleep.2016.12.005.

Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice.

Jauvin D, Chrétien J, Pandey SK, et al.

Molecular therapy. Nucleic acids 2017; (7()):465-474 doi:10.1016/j.omtn.2017.05.007.

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.

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.

Preparing for the unexpected: special considerations and complications after sugammadex administration.

Iwasaki H, Renew JR, Kunisawa T, Brull SJ

BMC anesthesiology 2017; (17(1)):140 doi:10.1186/s12871-017-0429-9.

Cognitive impairment and quality of life in patients with myotonic dystrophy type 1.

Fujino H, Shingaki H, Suwazono S, et al.

Muscle & nerve 2018; (57(5)):742-748 doi:10.1002/mus.26022.

Comparison between succinylcholine and rocuronium as neuromuscular blocking agents for electroconvulsive therapy in a patient with pseudocholinesterase deficiency.

Takazawa T, Suto T, Aihara M, et al.

JA clinical reports 2015; (1(1)):7 doi:10.1186/s40981-015-0009-2.

Disruption of sleep-wake continuum in myotonic dystrophy type 1: Beyond conventional sleep staging.

Bonanni E, Carnicelli L, Crapanzano D, et al.

Neuromuscular disorders : NMD 2018; (28(5)):414-421 doi:10.1016/j.nmd.2018.02.004.

Complete resolution of left atrial appendage thrombosis with oral dabigatran etexilate in a patient with Myotonic Dystrophy type 1 and atrial fibrillation.

Rago A, Papa AA, Arena G, et al.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2017; (36(4)):218-222.

Myotonic dystrophy type 1: clinical manifestations in children and adolescents.

Ho G, Carey KA, Cardamone M, Farrar MA

Archives of disease in childhood 2019; (104(1)):48-52 doi:10.1136/archdischild-2018-314837.

Cells of Matter-In Vitro Models for Myotonic Dystrophy.

Matloka M, Klein AF, Rau F, Furling D

Frontiers in neurology 2018; (9()):361 doi:10.3389/fneur.2018.00361.

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, et al.

The Lancet. Neurology 2018; (17(8)):671-680 doi:10.1016/S1474-4422(18)30203-5.

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, et al.

European journal of human genetics : EJHG 2018; (26(11)):1635-1647 doi:10.1038/s41431-018-0156-9.

Diastolic heart dysfunction is correlated with CTG repeat length in myotonic dystrophy type 1.

Park JS, Kim N, Park D

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2018; (39(11)):1935-1943 doi:10.1007/s10072-018-3530-z.

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, et al.

Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc 2019; (24(1)):e12587 doi:10.1111/anec.12587.

Dissecting Pathogenetic Mechanisms and Therapeutic Strategies in Drosophila Models of Myotonic Dystrophy Type 1.

Souidi A, Zmojdzian M, Jagla K

International journal of molecular sciences 2018; (19(12)) doi:10.3390/ijms19124104.

Consensus-based care recommendations for adults with myotonic dystrophy type 1.

Ashizawa T, Gagnon C, Groh WJ, et al.

Neurology. Clinical practice 2018; (8(6)):507-520 doi:10.1212/CPJ.0000000000000531.

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.

Myotonic dystrophy type 1 and pulmonary embolism: successful thrombus resolution with dabigatran etexilate therapy.

Gallinoro E, Papa AA, Rago A, et al.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2018; (37(3)):227-231.

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.

Heart transplantation in a patient with Myotonic Dystrophy type 1 and end-stage dilated cardiomyopathy: a short term follow-up.

Papa AA, Verrillo F, Scutifero M, et al.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2018; (37(4)):267-271.

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, et al.

Neurologia 2020; (35(3)):185-206 doi:10.1016/j.nrl.2019.01.001.

Myocardial fibrosis by late gadolinium enhancement cardiovascular magnetic resonance in myotonic muscular dystrophy type 1: highly prevalent but not associated with surface conduction abnormality.

Cardona A, Arnold WD, Kissel JT, et al.

Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance 2019; (21(1)):26 doi:10.1186/s12968-019-0535-6.

Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test.

Leferink M, Wong DPW, Cai S, et al.

Scientific reports 2019; (9(1)):8280 doi:10.1038/s41598-019-44588-3.

Sugammadex for Reversal of Neuromuscular Blockade: Uses and Limitations.

Hawkins J, Khanna S, Argalious M

Current pharmaceutical design 2019; (25(19)):2140-2148 doi:10.2174/1381612825666190704101145.

Molecular genetics of congenital myotonic dystrophy.

Lanni S, Pearson CE

Neurobiology of disease 2019; (132()):104533 doi:10.1016/j.nbd.2019.104533.

Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort.

Cumming SA, Jimenez-Moreno C, Okkersen K, et al.

Neurology 2019; (93(10)):e995-e1009 doi:10.1212/WNL.0000000000008056.

Prevalence of Left Ventricular Systolic Dysfunction in Myotonic Dystrophy Type 1: A Systematic Review.

Russo V, Sperlongano S, Gallinoro E, et al.

Journal of cardiac failure 2020; (26(10)):849-856 doi:10.1016/j.cardfail.2019.07.548.

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; (60(6)):779-789 doi:10.1002/mus.26709.

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.

Daily activity performance in congenital and childhood forms of myotonic dystrophy type 1: a population-based study.

Eriksson BM, Ekström AB, Peny-Dahlstrand M

Developmental medicine and child neurology 2020; (62(6)):723-728 doi:10.1111/dmcn.14395.

Overground exoskeletons may boost neuroplasticity in myotonic dystrophy type 1 rehabilitation: A case report.

Portaro S, Naro A, Leo A, et al.

Medicine 2019; (98(46)):e17582 doi:10.1097/MD.0000000000017582.

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, et al.

Journal of endocrinological investigation 2020; (43(5)):663-675 doi:10.1007/s40618-019-01156-w.

Myotonic Muscular Dystrophies.

Johnson NE

Continuum (Minneapolis, Minn.) 2019; (25(6)):1682-1695 doi:10.1212/CON.0000000000000793.

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.

[Myotonic dystrophy type 1 - a rare cause of bradycardia in the young].

Kataja Knight A, Tidehag L, Mattsson G, Magnusson P

Lakartidningen 2020; (117()).

Idiopathic ventricular fibrillation and the V1764fsX1786 frameshift mutation of the SCN5A gene in a myotonic dystrophy type 1 patient.

Shimoyama T, Hayashi H, Suzuki F, et al.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2020; (74()):242-244 doi:10.1016/j.jocn.2020.02.007.

Aberrant Expression of a Non-muscle RBFOX2 Isoform Triggers Cardiac Conduction Defects in Myotonic Dystrophy.

Misra C, Bangru S, Lin F, et al.

Developmental cell 2020; (52(6)):748-763.e6 doi:10.1016/j.devcel.2020.01.037.

Myasthenia gravis and sugammadex: A case report and review of the literature.

Dontukurthy S, Wisler C, Raman V, Tobias JD

Saudi journal of anaesthesia 2020; (14(2)):244-248 doi:10.4103/sja.SJA_721_19.

CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse model.

Ketley A, Wojciechowska M, Ghidelli-Disse S, et al.

Science translational medicine 2020; (12(541)) doi:10.1126/scitranslmed.aaz2415.

The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1.

Ballester-Lopez A, Linares-Pardo I, Koehorst E, et al.

Genes 2020; (11(7)) doi:10.3390/genes11070757.

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.

Utility of maximum inspiratory and expiratory pressures as a screening method for respiratory insufficiency in slowly progressive neuromuscular disorders.

Wenninger S, Stahl K, Wirner C, et al.

Neuromuscular disorders : NMD 2020; (30(8)):640-648 doi:10.1016/j.nmd.2020.06.009.

Therapeutic Potential of AntagomiR-23b for Treating Myotonic Dystrophy.

Cerro-Herreros E, González-Martínez I, Moreno-Cervera N, et al.

Molecular therapy. Nucleic acids 2020; (21()):837-849 doi:10.1016/j.omtn.2020.07.021.

Mexiletine in Myotonic Dystrophy Type 1: A Randomized, Double-Blind, Placebo-Controlled Trial.

Heatwole C, Luebbe E, Rosero S, et al.

Neurology 2021; (96(2)):e228-e240 doi:10.1212/WNL.0000000000011002.

Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1.

Simoncini C, Spadoni G, Lai E, et al.

Frontiers in neurology 2020; (11()):624 doi:10.3389/fneur.2020.00624.

[Opioid-free general anesthesia and induced recovery from anesthesia in a patient with myotonic dystrophy type-1: a case report].

Gurbuz H, Saracoglu KT

Brazilian journal of anesthesiology (Elsevier) 2020; (70(6)):682-685 doi:10.1016/j.bjan.2020.07.004.

Silent dysphagia in two patients with Steinert disease and recurrent respiratory exacerbations.

Annunziata A, Valente T, Cauteruccio R, Fiorentino G

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2020; (39(3)):141-143 doi:10.36185/2532-1900-019.

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.

New Insights in Adherence and Survival in Myotonic Dystrophy Patients Using Home Mechanical Ventilation.

Seijger C, Raaphorst J, Vonk J, et al.

Respiration; international review of thoracic diseases 2021; (100(2)):154-163 doi:10.1159/000511962.

Quantitative muscle MRI as a sensitive marker of early muscle pathology in myotonic dystrophy type 1.

van der Plas E, Gutmann L, Thedens D, et al.

Muscle & nerve 2021; (63(4)):553-562 doi:10.1002/mus.27174.

Suxamethonium-Induced Hyperkalemia: A Short Review of Causes and Recommendations for Clinical Applications.

Hovgaard HL, Juhl-Olsen P

Critical care research and practice 2021; (2021()):6613118 doi:10.1155/2021/6613118.

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.

Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1.

Mangin A, de Pontual L, Tsai YC, et al.

International journal of molecular sciences 2021; (22(5)) doi:10.3390/ijms22052616.

Factors Influencing the Severity and Progression of Respiratory Muscle Dysfunction in Myotonic Dystrophy Type 1.

Hartog L, Zhao J, Reynolds J, et al.

Frontiers in neurology 2021; (12()):658532 doi:10.3389/fneur.2021.658532.

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.

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.

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.

Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent.

Morales F, Corrales E, Zhang B, et al.

Human molecular genetics 2021; (31(2)):262-274 doi:10.1093/hmg/ddab243.

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.

DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients.

Yanovsky-Dagan S, Cohen E, Megalli P, et al.

European journal of human genetics : EJHG 2022; (30(8)):980-983 doi:10.1038/s41431-021-00999-3.

Antisense oligonucleotides as a potential treatment for brain deficits observed in myotonic dystrophy type 1.

Ait Benichou S, Jauvin D, De Serres-Bérard T, et al.

Gene therapy 2022; (29(12)):698-709 doi:10.1038/s41434-022-00316-7.

Myotonic Dystrophies: A Genetic Overview.

Soltanzadeh P

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

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.

External Ophthalmoplegia and Brainstem White Matter Lesions: Presentation of Myotonic Dystrophy Type 1.

Igreja L, Ribeiro L, Cardoso M, et al.

The neurologist 2023; (28(1)):54-56 doi:10.1097/NRL.0000000000000438.

Case Report: Severe Peripartum Cardiac Disease in Myotonic Dystrophy Type 1.

Besant G, Bourque PR, Smith IC, et al.

Frontiers in cardiovascular medicine 2022; (9()):899606 doi:10.3389/fcvm.2022.899606.

Laparoscopic cholecystectomy under total intravenous anaesthesia in a patient with myotonic dystrophy type 1 (Steinert's disease) - a case report.

Karras G, Nikouli E, Kiamiloglou B

Folia medica 2022; (64(2)):333-336 doi:10.3897/folmed.64.e59905.

An evaluation of 24 h Holter monitoring in patients with myotonic dystrophy type 1.

Joosten IBT, Janssen CEW, Horlings CGC, 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 2023; (25(1)):156-163 doi:10.1093/europace/euac104.

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.

Optimizing Reversal of Neuromuscular Block in Older Adults: Sugammadex or Neostigmine.

Togioka BM, Schenning KJ

Drugs & aging 2022; (39(10)):749-761 doi:10.1007/s40266-022-00969-4.

Asymptomatic myocardial infarction in a patient with myotonic dystrophy type 1.

Seki Y, Yamada T, Kiyosue A, et al.

Journal of cardiology cases 2022; (26(4)):248-251 doi:10.1016/j.jccase.2022.05.004.

Gender effect on onset, prevalence and surgical treatment of cataract in patients with Myotonic Dystrophy type 1.

Scutifero M, Lanza M, Petillo R, et al.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2022; (41(3)):105-110 doi:10.36185/2532-1900-N75.

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.

Myotonic Dystrophy.

Hamel JI

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

[Medical emergency card for Steinert's disease: an unmet need].

Rosado-Bartolomé A, Domínguez-González C

Revista de neurologia 2023; (76(1)):15-19 doi:10.33588/rn.7601.2022380.

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.

Respiratory function and sleep in children with myotonic dystrophy type 1.

Cheminelle M, Nougues MC, Isapof A, et al.

Neuromuscular disorders : NMD 2023; (33(3)):263-269 doi:10.1016/j.nmd.2023.01.008.

Pluripotent Stem Cells in Disease Modeling and Drug Discovery for Myotonic Dystrophy Type 1.

Bérenger-Currias N, Martinat C, Baghdoyan S

Cells 2023; (12(4)) doi:10.3390/cells12040571.

Echocardiographic Features of Cardiac Involvement in Myotonic Dystrophy 1: Prevalence and Prognostic Value.

Russo V, Capolongo A, Bottino R, et al.

Journal of clinical medicine 2023; (12(5)) doi:10.3390/jcm12051947.

Specific DMPK-promoter targeting by CRISPRi reverses myotonic dystrophy type 1-associated defects in patient muscle cells.

Porquet F, Weidong L, Jehasse K, et al.

Molecular therapy. Nucleic acids 2023; (32()):857-871 doi:10.1016/j.omtn.2023.05.007.

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.

Promising AAV.U7snRNAs vectors targeting DMPK improve DM1 hallmarks in patient-derived cell lines.

Almeida CF, Robriquet F, Vetter TA, et al.

Frontiers in cell and developmental biology 2023; (11()):1181040 doi:10.3389/fcell.2023.1181040.

[Eye disease with myotonic dystrophy type 1].

Boonstra NE, Varhaug KN

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke 2023; (143(13)) doi:10.4045/tidsskr.22.0608.

No increase in the CTG repeat size during transmission from parent with expanded allele: false suspicion of contraction phenomenon.

Goñi Ros N, Sienes Bailo P, González Tarancón R, et al.

Advances in laboratory medicine 2023; (4(2)):185-194 doi:10.1515/almed-2022-0079.

Diabetes distress and diabetes burnout explored in various areas of life in patients with type 1 diabetes: effect of short-term psychological intervention.

Cyranka K, Klupa T, Pilecki M, et al.

Endocrine 2024; (85(2)):676-684 doi:10.1007/s12020-024-03760-0.

Generation of three myotonic dystrophy type 1 patient iPSC lines (CBRCULi018-A, CBRCULi019-A, CBRCULi020-A) derived from lymphoblastoid cell lines for disease modelling and therapeutic research.

Pierre M, Jauvin D, Puymirat J, et al.

Stem cell research 2024; (76()):103375 doi:10.1016/j.scr.2024.103375.

Primary amenorrhea in myotonic dystrophy type 1: Initial presentation versus incidental finding on whole genome sequencing.

Damon J, Chase C, Higashimoto T

American journal of medical genetics. Part A 2024; (194(9)):e63650 doi:10.1002/ajmg.a.63650.

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.

Prevalence and associated factors of postoperative suxamethonium-induced myalgia in surgical patients at Debre Tabor Comprehensive Specialized Hospital Ethiopia: a cross-sectional study.

Chekol B, Zurbachew N, Mekete G, et al.

Scientific reports 2024; (14(1)):16552 doi:10.1038/s41598-024-65779-7.

Expression levels of core spliceosomal proteins modulate the MBNL-mediated spliceopathy in DM1.

Louis JM, Frias JA, Schroader JH, et al.

Human molecular genetics 2024; (33(21)):1873-1886 doi:10.1093/hmg/ddae125.

Living with adult-onset myotonic dystrophy type 1: a scoping review.

Allergodt K, Dreyer P, Werlauff U, Handberg C

Disability and rehabilitation 2025; (47(9)):2246-2257 doi:10.1080/09638288.2024.2396063.

Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing.

Shear MA, Penon-Portmann M, Shieh JT, et al.

Neurology. Genetics 2024; (10(6)):e200171 doi:10.1212/NXG.0000000000200171.

Identification of ZNF850 as a novel CTG repeat expansion-related gene in myotonic dystrophy type 1 patient-derived iPSCs.

Kamon M, Wakatsuki S, Nakamori M, et al.

Human molecular genetics 2025; (34(4)):327-337 doi:10.1093/hmg/ddae186.

Pearls & Oy-sters: Severe Myotonic Crisis Resembling Malignant Hyperthermia.

Wadhwani AR, Aggarwal A, Loscalzao S, et al.

Neurology 2025; (104(8)):e213497 doi:10.1212/WNL.0000000000213497.

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