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The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). View full journal description

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Articles most recently published online for this journal.
Open Access
Review article
First published  

Sarcoglycanopathies: From clinical diagnosis to new promising therapies

  • Holly Borland
  • Jordi Diaz-Manera
Open Access
Research article
First published  

Automated analysis of quantitative muscle MRI and its reliability in patients with Duchenne muscular dystrophy

  • Sara Nagy
  • Olga Kubassova
  • Patricia Hafner
  • Sabine Schädelin
  • Simone Schmidt
  • Michael Sinnreich
  • Jonas Schröder
  • Oliver Bieri
  • Mikael Boesen
  • Dirk Fischer
Open Access
Research article
First published  

Patient-reported assessment of bulbar function in spinal muscular atrophy (SMA): Validation of a self-report scale

  • Maureen A Lefton-Greif
  • Lisa Belter
  • Jill Jarecki
  • Mary Schroth
  • Yong Zeng
  • Thomas O Crawford
  • Cyd Eaton
Open Access
Case report
First published  

Preclinical development of genome editing to treat Duchenne muscular dystrophy by exon skipping

  • Made Harumi Padmaswari
  • Shilpi Agrawal
  • Christopher E Nelson
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Most read articles in this journal in the last 6 months.
Open Access
Research article
First published  

Newborn screening programs for spinal muscular atrophy worldwide in 2023

  • Eva Vrščaj
  • Tamara Dangouloff
  • Damjan Osredkar
  • Laurent Servais
  • the SMA NBS World Study Group
Open Access
Review article
First published  

Taking ACTION to detect myocarditis related to recombinant gene transfer therapy for Duchenne Muscular Dystrophy; Consensus recommendations for cardiac surveillance

  • Beth D. Kaufman
  • Aravindhan Veerapandiyan
  • Jonathan H Soslow
  • Carol Wittlieb-Weber
  • Paul Esteso
  • Aaron K. Olson
  • Renata Shih
  • Neha Bansal
  • Ashwin Lal
  • Katheryn Gambetta
  • Daphne Hsu
  • Linda Cripe
  • Chet Villa
  • Deipanjan Nandi
Open Access
Research article
First published  

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

  • Andre Megarbane
  • Sami Bizzari
  • Asha Deepthi
  • Sandra Sabbagh
  • Hicham Mansour
  • Eliane Chouery
  • Ghassan Hmaimess
  • Rosette Jabbour
  • Cybel Mehawej
  • Saada Alame
  • Abeer Hani
  • Dana Hasbini
  • Ismat Ghanem
  • Salam Koussa
  • Mahmoud Taleb Al-Ali
  • Marc Obeid
  • Diana Bou Talea
  • Gerard Lefranc
  • Nicolas Lévy
  • France Leturcq
  • Stephany El Hayek
  • Valérie Delague
  • J. Andoni Urtizberea
Open Access
Review article
First published  

Gene Therapy for Duchenne Muscular Dystrophy

  • Nertiyan Elangkovan
  • George Dickson
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Most cited articles published in this journal in the last 3 years. These statistics are updated weekly using data sourced exclusively from CrossRef.
Open Access
Research article
First published  

Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular Dystrophy

  • Paula R. Clemens
  • Vamshi K. Rao
  • Anne M. Connolly
  • Amy D. Harper
  • Jean K. Mah
  • Craig M. McDonald
  • Edward C. Smith
  • Craig M. Zaidman
  • Tomoyuki Nakagawa
  • the CINRG DNHS Investigators
  • Eric P. Hoffman
Open Access
Review article
First published  

Comparing Deflazacort and Prednisone in Duchenne Muscular Dystrophy

  • W. Douglas Biggar
  • Andrew Skalsky
  • Craig M. McDonald
Open Access
Research article
First published  

Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG)

  • Richard S. Finkel
  • Basil T. Darras
  • Jerry R. Mendell
  • John W. Day
  • Nancy L. Kuntz
  • Anne M. Connolly
  • Craig M. Zaidman
  • Thomas O. Crawford
  • Russell J. Butterfield
  • Perry B. Shieh
  • Gihan Tennekoon
  • John F. Brandsema
  • Susan T. Iannaccone
  • John Shoffner
  • Sarah Kavanagh
  • Thomas A. Macek
  • Sitra Tauscher-Wisniewski
Free access
Research article
First published  

Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?

  • Astrid Blaschek
  • Heike Kölbel
  • Oliver Schwartz
  • Cornelia Köhler
  • Dieter Gläser
  • Katja Eggermann
  • Iris Hannibal
  • Ulrike Schara-Schmidt
  • Wolfgang Müller-Felber
  • Katharina Vill
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Articles with the highest Altmetric score from the last 3 months, indicating influence and impact.
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