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 2022-08-01 to 2026-08-01.)
ArticleCitations
Beyond muscle: Delivering RNA therapeutics to the CNS in Duchenne muscular dystrophy67
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort63
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan56
Navigating sexual health, fertility, and adult wellness in individuals with Duchenne muscular dystrophy: Current standards of care and future directions41
The continued promise of genomic technologies and software in neurogenetics38
Pilot study of canakinumab (Ilaris) in steroid naïve children with Duchenne muscular dystrophy demonstrates safety and exploratory changes in potential serum protein response biomarkers38
Meeting report: Translating exercise research in dystrophinopathy to the clinic32
Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype30
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
Rozanolixizumab in generalized myasthenia gravis: Pooled analysis of the Phase 3 MycarinG study and two open-label extensions28
Characterization of swallowing biomechanics and function in untreated infants with spinal muscular atrophy: A natural history dataset27
Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review26
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants25
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 Tract25
Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review24
Automated analysis of quantitative muscle MRI and its reliability in patients with Duchenne muscular dystrophy24
Immunohistological and electron microscopy profile of unique TIRM-MRI guided muscle biopsies of FSHD patients24
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study24
Minute-by minute gait variations during the 6-Minute walk test in subjects with myotonic dystrophy type 123
Longitudinal cohort study of muscle function and metabolic biomarkers in disease-modifying treatment of spinal muscular atrophy21
A novel variant in VMA21 causing adult-onset phenotype of X-linked myopathy with excessive autophagy with cardiac involvement in a Chinese patient21
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