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 2022-05-01 to 2026-05-01.)
ArticleCitations
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan63
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort57
Beyond muscle: Delivering RNA therapeutics to the CNS in Duchenne muscular dystrophy55
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 Tract50
Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review47
Pilot study of canakinumab (Ilaris) in steroid naïve children with Duchenne muscular dystrophy demonstrates safety and exploratory changes in potential serum protein response biomarkers36
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report34
Immunohistological and electron microscopy profile of unique TIRM-MRI guided muscle biopsies of FSHD patients31
The continued promise of genomic technologies and software in neurogenetics28
Characterization of swallowing biomechanics and function in untreated infants with spinal muscular atrophy: A natural history dataset27
Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype25
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants25
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study24
Rozanolixizumab in generalized myasthenia gravis: Pooled analysis of the Phase 3 MycarinG study and two open-label extensions24
Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India23
Longitudinal cohort study of muscle function and metabolic biomarkers in disease-modifying treatment of spinal muscular atrophy22
Automated analysis of quantitative muscle MRI and its reliability in patients with Duchenne muscular dystrophy22
Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review22
Role of next generation sequencing in neonatal diagnosis and screening22
Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study21
Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis21
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