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 2021-08-01 to 2025-08-01.)
ArticleCitations
Author’s Response to: Rebuttal to: Simvastatin Treatment Does Not Ameliorate Muscle Pathophysiology in a Mouse Model for Duchenne Muscular Dystrophy, Verhaart et al. 2020136
Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report78
Association of HLA Class II Alleles with Disease Severity and Treatment Response in Iranian Patients with Myasthenia Gravis69
Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a ‘Treatabolome’59
Development of Contractures in DMD in Relation to MRI-Determined Muscle Quality and Ambulatory Function48
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan37
Beyond muscle: Delivering RNA therapeutics to the CNS in Duchenne muscular dystrophy36
Characterization of swallowing biomechanics and function in untreated infants with spinal muscular atrophy: A natural history dataset35
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort35
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants33
Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review33
Rozanolixizumab in generalized myasthenia gravis: Pooled analysis of the Phase 3 MycarinG study and two open-label extensions30
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 Tract30
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report29
Pilot study of canakinumab (Ilaris) in steroid naïve children with Duchenne muscular dystrophy demonstrates safety and exploratory changes in potential serum protein response biomarkers29
The continued promise of genomic technologies and software in neurogenetics27
Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis24
A novel variant in VMA21 causing adult-onset phenotype of X-linked myopathy with excessive autophagy with cardiac involvement in a Chinese patient24
Expanding the MYOD1 Phenotype: A Case Report of a Patient Diagnosed Whilst Pregnant24
Impact of a 12-week Strength Training Program on Fatigue, Daytime Sleepiness, and Apathy in Men with Myotonic Dystrophy Type 124
Meeting Report: 2023 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Therapy of Neuromuscular Diseases’23
A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA)21
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