Research & Literature

X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy.

Nakamura A

Pharmaceuticals (Basel, Switzerland) 2015; (8(2)):303-20 doi:10.3390/ph8020303.

Optimizing Bone Health in Duchenne Muscular Dystrophy.

Buckner JL, Bowden SA, Mahan JD

International journal of endocrinology 2015; (2015()):928385 doi:10.1155/2015/928385.

Imperatives for DUCHENNE MD: a Simplified Guide to Comprehensive Care for Duchenne Muscular Dystrophy.

Kinnett K, Rodger S, Vroom E, et al.

PLoS currents 2015; (7()).

Duchenne Muscular Dystrophy: From Diagnosis to Therapy.

Falzarano MS, Scotton C, Passarelli C, Ferlini A

Molecules (Basel, Switzerland) 2015; (20(10)):18168-84 doi:10.3390/molecules201018168.

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy.

Mendell JR, Goemans N, Lowes LP, et al.

Annals of neurology 2016; (79(2)):257-71 doi:10.1002/ana.24555.

Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy.

Papa R, Madia F, Bartolomeo D, et al.

Pediatric neurology 2016; (55()):58-63.

Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort.

Willcocks RJ, Rooney WD, Triplett WT, et al.

Annals of neurology 2016; (79(4)):535-47 doi:10.1002/ana.24599.

Delay in Diagnosis of Duchenne Muscular Dystrophy.

Rao VK, Kuntz NL

Pediatric neurology briefs 2015; (29(1)):5 doi:10.15844/pedneurbriefs-29-1-4.

Corticosteroids for the treatment of Duchenne muscular dystrophy.

Matthews E, Brassington R, Kuntzer T, et al.

The Cochrane database of systematic reviews 2016; CD003725 doi:10.1002/14651858.CD003725.pub4.

Unique pattern of late gadolinium enhancement on cardiac magnetic resonance imaging in Duchenne muscular dystrophy.

Ganigara M, Sharma B, Komalla RB, et al.

Annals of pediatric cardiology 2016; (9(2)):190-1 doi:10.4103/0974-2069.181496.

Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy.

Mercuri E, Coratti G, Messina S, et al.

PloS one 2016; (11(8)):e0160195 doi:10.1371/journal.pone.0160195.

Duchenne muscular dystrophy: the management of scoliosis.

Archer JE, Gardner AC, Roper HP, et al.

Journal of spine surgery (Hong Kong) 2016; (2(3)):185-194 doi:10.21037/jss.2016.08.05.

Impact of Noninvasive Ventilation on Lung Volumes and Maximum Respiratory Pressures in Duchenne Muscular Dystrophy.

Brasil Santos D, Vaugier I, Boussaïd G, et al.

Respiratory care 2016; (61(11)):1530-1535 doi:10.4187/respcare.04703.

Study of Duchenne muscular dystrophy long-term survivors aged 40 years and older living in specialized institutions in Japan.

Saito T, Kawai M, Kimura E, et al.

Neuromuscular disorders : NMD 2017; (27(2)):107-114 doi:10.1016/j.nmd.2016.11.012.

Characterization of a Blood Spot Creatine Kinase Skeletal Muscle Isoform Immunoassay for High-Throughput Newborn Screening of Duchenne Muscular Dystrophy.

Moat SJ, Korpimäki T, Furu P, et al.

Clinical chemistry 2017; (63(4)):908-914 doi:10.1373/clinchem.2016.268425.

Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.

Guglieri M, Bushby K, McDermott MP, et al.

Contemporary clinical trials 2017; (58()):34-39 doi:10.1016/j.cct.2017.04.008.

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

Koeks Z, Bladen CL, Salgado D, et al.

Journal of neuromuscular diseases 2017; (4(4)):293-306 doi:10.3233/JND-170280.

Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study.

McDonald CM, Henricson EK, Abresch RT, et al.

Lancet (London, England) 2018; (391(10119)):451-461 doi:10.1016/S0140-6736(17)32160-8.

Evolution of respiratory function in Duchenne muscular dystrophy from childhood to adulthood.

LoMauro A, Romei M, Gandossini S, et al.

The European respiratory journal 2018; (51(2)) doi:10.1183/13993003.01418-2017.

Virtual Reality Computer Gaming with Dynamic Arm Support in Boys with Duchenne Muscular Dystrophy.

Heutinck L, Jansen M, van den Elzen Y, et al.

Journal of neuromuscular diseases 2018; (5(3)):359-372 doi:10.3233/JND-180307.

Nutritional and Gastrointestinal Management of the Patient With Duchenne Muscular Dystrophy.

Brumbaugh D, Watne L, Gottrand F, et al.

Pediatrics 2018; (142(Suppl 2)):S53-S61 doi:10.1542/peds.2018-0333G.

Evaluating Implementation of the Updated Care Considerations for Duchenne Muscular Dystrophy.

Ong KS, Kinnett K, Soelaeman R, et al.

Pediatrics 2018; (142(Suppl 2)):S118-S128 doi:10.1542/peds.2018-0333N.

Fractures and bone health monitoring in boys with Duchenne muscular dystrophy managed within the Scottish Muscle Network.

Joseph S, Wang C, Di Marco M, et al.

Neuromuscular disorders : NMD 2019; (29(1)):59-66 doi:10.1016/j.nmd.2018.09.005.

Progression of Ankle Plantarflexion Contractures and Functional Decline in Duchenne Muscular Dystrophy: Implications for Physical Therapy Management.

Kiefer M, Bonarrigo K, Quatman-Yates C, et al.

Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association 2019; (31(1)):61-66 doi:10.1097/PEP.0000000000000553.

Can simple and low-cost motor function assessments help in the diagnostic suspicion of Duchenne muscular dystrophy?

Pereira AC, Araújo APQC, Ribeiro MG

Jornal de pediatria 2020; (96(4)):503-510 doi:10.1016/j.jped.2019.02.003.

Association between pulmonary function and left ventricular volume and function in duchenne muscular dystrophy.

Khokhar A, Nair A, Midya V, et al.

Muscle & nerve 2019; (60(3)):286-291 doi:10.1002/mus.26623.

Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy.

Muntoni F, Domingos J, Manzur AY, et al.

PloS one 2019; (14(9)):e0221097 doi:10.1371/journal.pone.0221097.

Deflazacort vs prednisone treatment for Duchenne muscular dystrophy: A meta-analysis of disease progression rates in recent multicenter clinical trials.

McDonald CM, Sajeev G, Yao Z, et al.

Muscle & nerve 2020; (61(1)):26-35 doi:10.1002/mus.26736.

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.

Neri M, Rossi R, Trabanelli C, et al.

Frontiers in genetics 2020; (11()):131 doi:10.3389/fgene.2020.00131.

Retrospective Analysis of Fractures and Factors Causing Ambulation Loss After Lower Limb Fractures in Duchenne Muscular Dystrophy.

Yildiz S, Glanzman AM, Estilow T, et al.

American journal of physical medicine & rehabilitation 2020; (99(9)):789-794 doi:10.1097/PHM.0000000000001423.

EMQN best practice guidelines for genetic testing in dystrophinopathies.

Fratter C, Dalgleish R, Allen SK, et al.

European journal of human genetics : EJHG 2020; (28(9)):1141-1159 doi:10.1038/s41431-020-0643-7.

Targeting IRES-dependent translation as a novel approach for treating Duchenne muscular dystrophy.

Péladeau C, Jasmin BJ

RNA biology 2021; (18(9)):1238-1251 doi:10.1080/15476286.2020.1847894.

Viltolarsen in Japanese Duchenne muscular dystrophy patients: A phase 1/2 study.

Komaki H, Takeshima Y, Matsumura T, et al.

Annals of clinical and translational neurology 2020; (7(12)):2393-2408 doi:10.1002/acn3.51235.

Safety, feasibility, and efficacy of strengthening exercise in Duchenne muscular dystrophy.

Lott DJ, Taivassalo T, Cooke KD, et al.

Muscle & nerve 2021; (63(3)):320-326 doi:10.1002/mus.27137.

Duchenne muscular dystrophy.

Duan D, Goemans N, Takeda S, et al.

Nature reviews. Disease primers 2021; (7(1)):13 doi:10.1038/s41572-021-00248-3.

A single NGS-based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing.

Nallamilli BRR, Chaubey A, Valencia CA, et al.

Human mutation 2021; (42(5)):626-638 doi:10.1002/humu.24191.

Exercise Cardiac Magnetic Resonance Imaging in Boys With Duchenne Muscular Dystrophy Without Cardiac Disease.

Power LC, Gusso S, Hornung TS, et al.

Pediatric neurology 2021; (117()):35-43 doi:10.1016/j.pediatrneurol.2020.12.011.

Therapeutic aspects of cell signaling and communication in Duchenne muscular dystrophy.

Starosta A, Konieczny P

Cellular and molecular life sciences : CMLS 2021; (78(11)):4867-4891 doi:10.1007/s00018-021-03821-x.

Adult North Star Network (ANSN): Consensus Guideline For The Standard Of Care Of Adults With Duchenne Muscular Dystrophy.

Quinlivan R, Messer B, Murphy P, et al.

Journal of neuromuscular diseases 2021; (8(6)):899-926 doi:10.3233/JND-200609.

Dystrophin Dp71 Subisoforms Localize to the Mitochondria of Human Cells.

Niba ETE, Awano H, Lee T, et al.

Life (Basel, Switzerland) 2021; (11(9)) doi:10.3390/life11090978.

Creatine kinase test diagnostic accuracy in neonatal screening for Duchenne Muscular Dystrophy: A systematic review.

de Freitas Nakata KC, da Silva Pereira PP, Salgado Riveros B

Clinical biochemistry 2021; (98()):1-9 doi:10.1016/j.clinbiochem.2021.09.010.

Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy.

Shieh PB, Elfring G, Trifillis P, et al.

Journal of comparative effectiveness research 2021; (10(18)):1337-1347 doi:10.2217/cer-2021-0018.

Pharmacological Profile of Viltolarsen for the Treatment of Duchenne Muscular Dystrophy: A Japanese Experience.

Roshmi RR, Yokota T

Clinical pharmacology : advances and applications 2021; (13()):235-242 doi:10.2147/CPAA.S288842.

Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.

Guglieri M, Bushby K, McDermott MP, et al.

JAMA 2022; (327(15)):1456-1468 doi:10.1001/jama.2022.4315.

Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy.

Zambon AA, Ayyar Gupta V, Ridout D, et al.

Developmental medicine and child neurology 2022; (64(8)):979-988 doi:10.1111/dmcn.15176.

Selected clinical and demographic factors and all-cause mortality among individuals with Duchenne muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking, and Research Network.

Paramsothy P, Wang Y, Cai B, et al.

Neuromuscular disorders : NMD 2022; (32(6)):468-476 doi:10.1016/j.nmd.2022.04.008.

Effectiveness of Neridronate in the Management of Bone Loss in Patients with Duchenne Muscular Dystrophy: Results from a Pilot Study.

Moretti A, Liguori S, Paoletta M, et al.

Advances in therapy 2022; (39(7)):3308-3315 doi:10.1007/s12325-022-02179-1.

Longitudinal changes in cardiac function in Duchenne muscular dystrophy population as measured by magnetic resonance imaging.

Batra A, Barnard AM, Lott DJ, et al.

BMC cardiovascular disorders 2022; (22(1)):260 doi:10.1186/s12872-022-02688-5.

Comparing Deflazacort and Prednisone in Duchenne Muscular Dystrophy.

Biggar WD, Skalsky A, McDonald CM

Journal of neuromuscular diseases 2022; (9(4)):463-476 doi:10.3233/JND-210776.

Respiratory Function and Sleep Disordered Breathing in Pediatric Duchenne Muscular Dystrophy.

Zambon AA, Trucco F, Laverty A, et al.

Neurology 2022; (99(12)):e1216-e1226 doi:10.1212/WNL.0000000000200932.

Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.

Guglieri M, Clemens PR, Perlman SJ, et al.

JAMA neurology 2022; (79(10)):1005-1014 doi:10.1001/jamaneurol.2022.2480.

Patient-led development of digital endpoints and the use of computer vision analysis in assessment of motor function in rare diseases.

Ferrer-Mallol E, Matthews C, Stoodley M, et al.

Frontiers in pharmacology 2022; (13()):916714 doi:10.3389/fphar.2022.916714.

Duchenne muscular dystophy: A short review and treatment update.

Topaloglu H

Iranian journal of child neurology 2021; (15(2)):9-15 doi:10.22037/ijcn.v16i1.33282.

Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements.

Jaxybayeva A, Chunkayeva D, Myrzaliyeva B, et al.

Journal of neuromuscular diseases 2023; (10(2)):263-269 doi:10.3233/JND-221559.

Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy.

Viggiano E, Picillo E, Passamano L, et al.

Genes 2023; (14(1)) doi:10.3390/genes14010214.

Molecular Diagnosis of Duchenne Muscular Dystrophy Using Single NGS-Based Assay.

Nallamilli BRR, Guruju N, Jump V, et al.

Current protocols 2023; (3(2)):e669 doi:10.1002/cpz1.669.

A Deletion in Duchenne Muscular Dystrophy Gene Found Through Whole Exome Sequencing in Iran.

Ameri-Mahabadi S, Nikfar A, Mansouri M, et al.

DNA and cell biology 2023; (42(5)):248-253 doi:10.1089/dna.2022.0589.

Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability?

Pane M, Coratti G, Brogna C, et al.

Journal of neuromuscular diseases 2023; (10(4)):567-574 doi:10.3233/JND-221556.

Delandistrogene Moxeparvovec: First Approval.

Hoy SM

Drugs 2023; (83(14)):1323-1329 doi:10.1007/s40265-023-01929-x.

Paving the way for future gene therapies: A case study of scientific spillover from delandistrogene moxeparvovec.

Asher D, Dai D, Klimchak AC, et al.

Molecular therapy. Methods & clinical development 2023; (30()):474-483 doi:10.1016/j.omtm.2023.08.002.

Advances in Dystrophinopathy Diagnosis and Therapy.

Saad FA, Siciliano G, Angelini C

Biomolecules 2023; (13(9)) doi:10.3390/biom13091319.

Detecting early signs in Duchenne muscular dystrophy: comprehensive review and diagnostic implications.

Mercuri E, Pane M, Cicala G, et al.

Frontiers in pediatrics 2023; (11()):1276144 doi:10.3389/fped.2023.1276144.

The Early Care (0-3 Years) In Duchenne Muscular Dystrophy Meeting Report.

Armstrong N, Apkon S, Berggren KN, et al.

Journal of neuromuscular diseases 2024; (11(2)):525-533 doi:10.3233/JND-230180.

Duchenne and Becker muscular dystrophy: Cellular mechanisms, image analysis, and computational models: A review.

Escobar-Huertas JF, Vaca-González JJ, Guevara JM, et al.

Cytoskeleton (Hoboken, N.J.) 2024; (81(6-7)):269-286 doi:10.1002/cm.21826.

Practical Considerations for Delandistrogene Moxeparvovec Gene Therapy in Patients With Duchenne Muscular Dystrophy.

Mendell JR, Proud C, Zaidman CM, et al.

Pediatric neurology 2024; (153()):11-18 doi:10.1016/j.pediatrneurol.2024.01.003.

Gene-based therapies for neuromuscular disorders.

Zanoteli E, França MC, Marques W

Arquivos de neuro-psiquiatria 2024; (82(6)):1-10 doi:10.1055/s-0043-1777755.

Pilot study of a virtual weight management program for Duchenne muscular dystrophy.

Billich N, Bray P, Truby H, et al.

Muscle & nerve 2024; (69(4)):459-466 doi:10.1002/mus.28065.

Pragmatic Neurorehabilitation Approach for Improving Quality of Life in Duchenne Muscular Dystrophy: A Case Report.

Nangliya R, Sasun AR, Samal S

Cureus 2024; (16(3)):e56315 doi:10.7759/cureus.56315.

Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene.

Davies KE, Vogt J

Neuromuscular disorders : NMD 2024; (39()):5-9 doi:10.1016/j.nmd.2024.04.004.

Adrenal Suppression From Vamorolone and Prednisone in Duchenne Muscular Dystrophy: Results From the Phase 2b Clinical Trial.

Ahmet A, Tobin R, Dang UJ, et al.

The Journal of clinical endocrinology and metabolism 2025; (110(2)):334-344 doi:10.1210/clinem/dgae521.

What is in the Myopathy Literature?

Isfort M, Lacomis D

Journal of clinical neuromuscular disease 2024; (26(1)):16-31 doi:10.1097/CND.0000000000000484.

Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A Systematic Review.

Pascual-Morena C, Lucerón-Lucas-Torres M, Martínez-García I, et al.

Paediatric drugs 2024; (26(6)):695-707 doi:10.1007/s40272-024-00655-5.

Unveiling non-coding DMD variants: synergising RNA sequencing and DNA sequencing for enhanced molecular diagnosis.

Pan Y, Nallamilli BRR, Liu R, et al.

Journal of medical genetics 2025; (62(2)):97-106 doi:10.1136/jmg-2024-110152.

Immunologic investigations into transgene directed immune-mediated myositis following delandistrogene moxeparvovec gene therapy.

Potter RA, Moeller IH, Khan S, et al.

Scientific reports 2025; (15(1)):4 doi:10.1038/s41598-024-84077-w.

Phase 1/2 trial of brogidirsen: Dual-targeting antisense oligonucleotides for exon 44 skipping in Duchenne muscular dystrophy.

Komaki H, Takeshita E, Kunitake K, et al.

Cell reports. Medicine 2025; (6(1)):101901 doi:10.1016/j.xcrm.2024.101901.

Cardiac treatment for Duchenne muscular dystrophy: consensus recommendations from the ACTION muscular dystrophy committee.

Esteso P, Auerbach SR, Bansal N, et al.

Cardiology in the young 2025; (35(4)):770-775 doi:10.1017/S1047951125000587.

Identification of two previously unreported Duchenne muscular dystrophy gene variants in a patient diagnosed with a dystrophinopathy: a case report.

Gerges S, Naoufal R, Mansour H

Journal of medical case reports 2025; (19(1)):101 doi:10.1186/s13256-025-05135-z.

Case Report: Home initiation of nocturnal non-invasive ventilation in two adolescents with Duchenne muscular dystrophy and comorbid autism spectrum disorder and ADHD.

Weerkamp PMM, Voermans M, Finders M, et al.

Frontiers in pediatrics 2025; (13()):1525365 doi:10.3389/fped.2025.1525365.

Advances in Duchenne Muscular Dystrophy: Diagnostic Techniques and Dystrophin Domain Insights.

Sarvutiene J, Ramanavicius A, Ramanavicius S, Prentice U

International journal of molecular sciences 2025; (26(8)) doi:10.3390/ijms26083579.

Delandistrogene Moxeparvovec Gene Therapy in Individuals With Duchenne Muscular Dystrophy: Evidence in Focus: Report of the AAN Guidelines Subcommittee.

Oskoui M, Caller TA, Parsons JA, et al.

Neurology 2025; (104(11)):e213604 doi:10.1212/WNL.0000000000213604.

Serum protein biomarker signature of Duchenne muscular dystrophy.

Dowling P, Negroni E, Trollet C, et al.

European journal of translational myology 2025; (35(2)) doi:10.4081/ejtm.2025.13956.

Development of a guideline for orthopaedic management in the care of children and young people with Duchenne muscular dystrophy in the UK National Health Service.

Henman PD, Turner C, Aird J, et al.

Journal of children's orthopaedics 2025; (19(4)):267-275 doi:10.1177/18632521251348972.

Quantitative Muscle Ultrasound: A Non-Invasive Biomarker for Monitoring Duchenne Muscular Dystrophy.

Im YJ, Choe Y, Lee J, et al.

Muscle & nerve 2025; (72(4)):606-615 doi:10.1002/mus.28469.

Evolution and Breakthroughs in Exon Skipping and Splice Modulation: From Inception to Clinical Success.

Lim KRQ, Yokota T

Methods in molecular biology (Clifton, N.J.) 2025; (2964()):23-51 doi:10.1007/978-1-0716-4730-1_2.

Muscular Dystrophies.

Chen YW, Bittel AJ, Bittel DC, et al.

Advances in experimental medicine and biology 2025; (1478()):245-284 doi:10.1007/978-3-031-88361-3_11.

Neurological impairments in Duchenne muscular dystrophy: A comprehensive review.

Zhang XF, Hu W, Hu J

Acta neurologica Belgica 2025; doi:10.1007/s13760-025-02880-2.

Effect of multidisciplinary team collaborative nursing on wound healing and psychological symptoms in postoperative patients with gastrointestinal tumors.

Huang XY, Qian D

World journal of gastrointestinal oncology 2025; (17(10)):110471 doi:10.4251/wjgo.v17.i10.110471.

Quality of Life and Financial Burden in Duchenne Muscular Dystrophy in Greece: Insights into Health System Performance in the Post-Pandemic Context.

Katsomiti E, Kastanioti C, Chroni E, et al.

Healthcare (Basel, Switzerland) 2025; (13(22)) doi:10.3390/healthcare13222835.

Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy.

Yuan Q, Liu C, Lu Y, et al.

The application of clinical genetics 2025; (18()):243-249 doi:10.2147/TACG.S544691.

Orthopedic management in Duchenne muscular dystrophy.

Gaumé M, Cunin V, Vuillerot C

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2025; (32(7S1)):7S32-7S38 doi:10.1016/S0929-693X(25)00251-9.

Current Trends in Duchenne Muscular Dystrophy Research and Therapy: 3D Cardiac Modelling.

Przymuszała M, Białobrzeska M, Dulak J, Florczyk-Soluch U

Journal of cachexia, sarcopenia and muscle 2026; (17(1)):e70180 doi:10.1002/jcsm.70180.

Rare DMD Gene Duplication in a Lebanese Child With Duchene Muscular Dystrophy.

Assaf N, El Hajj J, Doghman J, et al.

Clinical case reports 2026; (14(2)):e71967 doi:10.1002/ccr3.71967.

The burden of bone disease in Duchenne muscular dystrophy: age-specific prevalence of osteoporosis and low bone density.

Nasomyont N, Tian C, Hornung L, et al.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2026; doi:10.1007/s00198-026-07963-1.