Journal of Neuromuscular Diseases

Papers
(The H4-Index of Journal of Neuromuscular Diseases is 21. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-05-01 to 2025-05-01.)
ArticleCitations
Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a ‘Treatabolome’123
Author’s Response to: Rebuttal to: Simvastatin Treatment Does Not Ameliorate Muscle Pathophysiology in a Mouse Model for Duchenne Muscular Dystrophy, Verhaart et al. 202071
Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report63
Association of HLA Class II Alleles with Disease Severity and Treatment Response in Iranian Patients with Myasthenia Gravis50
Ancestral Origin of the First Indian Families with Myotonic Dystrophy Type 244
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort32
Development of Contractures in DMD in Relation to MRI-Determined Muscle Quality and Ambulatory Function30
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan30
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report28
Characterization of swallowing biomechanics and function in untreated infants with spinal muscular atrophy: A natural history dataset28
The continued promise of genomic technologies and software in neurogenetics28
Oral and Swallowing Abilities Tool (OrSAT) for Type 1 SMA Patients: Development of a New Module27
HAP-PEE: A Danish National Study of Challenges Related to Urinating When Away from Home in Women with Neuromuscular Diseases, Impact on Activity and Participation and Prevalence of Lower Urinary Tract26
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants25
Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review24
Rozanolixizumab in generalized myasthenia gravis: Pooled analysis of the Phase 3 MycarinG study and two open-label extensions23
Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review23
Impact of a 12-week Strength Training Program on Fatigue, Daytime Sleepiness, and Apathy in Men with Myotonic Dystrophy Type 122
A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA)22
Validation of the Single Breath Count Test for Assessment of Inspiratory Muscle Strength in Healthy Subjects and People with Neuromuscular Disorders22
Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study21
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