Journal of Neuromuscular Diseases

Papers
(The H4-Index of Journal of Neuromuscular Diseases is 22. 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 2021-10-01 to 2025-10-01.)
ArticleCitations
Beyond muscle: Delivering RNA therapeutics to the CNS in Duchenne muscular dystrophy146
Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report83
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort71
Development of Contractures in DMD in Relation to MRI-Determined Muscle Quality and Ambulatory Function59
Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a ‘Treatabolome’50
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan39
The continued promise of genomic technologies and software in neurogenetics38
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report38
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 Tract37
Rozanolixizumab in generalized myasthenia gravis: Pooled analysis of the Phase 3 MycarinG study and two open-label extensions36
Pilot study of canakinumab (Ilaris) in steroid naïve children with Duchenne muscular dystrophy demonstrates safety and exploratory changes in potential serum protein response biomarkers34
Characterization of swallowing biomechanics and function in untreated infants with spinal muscular atrophy: A natural history dataset31
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants30
Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review30
Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype29
A novel variant in VMA21 causing adult-onset phenotype of X-linked myopathy with excessive autophagy with cardiac involvement in a Chinese patient28
Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis27
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study27
Automated analysis of quantitative muscle MRI and its reliability in patients with Duchenne muscular dystrophy25
Expanding the MYOD1 Phenotype: A Case Report of a Patient Diagnosed Whilst Pregnant23
A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA)22
Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study22
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