Journal of Neuromuscular Diseases

Papers
(The H4-Index of Journal of Neuromuscular Diseases is 20. 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 2021-04-01 to 2025-04-01.)
ArticleCitations
Peripheral defects precede neuromuscular pathology in the Smn2B/βˆ’ mouse model of spinal muscular atrophy117
Digital outcome measures in Duchene muscular dystrophy: Lessons learnt from clinical trials70
Newborn screening and rapid genomic diagnosis of neuromuscular diseases63
Cardiopulmonary exercise testing as an integrative approach to explore physiological limitations in Duchenne muscular dystrophy49
Behavioural Impairment and Frontotemporal Dementia in Oculopharyngeal Muscular Dystrophy44
A Single mtDNA Deletion in Association with a LMNA Gene New Frameshift Variant: A Case Report32
16th International Congress on Neuromuscular Diseases, 21 - 22 & 28 - 29 May 2021 Virtual, Worldwide29
Reply to F. Muntoni et al.: β€œIn response to P.R. Clemens et al., Efficacy and Safety of Viltolarsen in Boys with Duchenne Muscular Dystrophy: Results From the Phase 2, Open-Label, 4-Year Extension 29
A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report27
Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases26
Minimal Consequences of CMAH and DBA/2 Backgrounds on a FKRP Deficient Model26
Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening25
The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data25
Neuro-Cardio-Autonomic Modulations in Children with Duchenne Muscular Dystrophy24
Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report23
Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?22
Association of HLA Class II Alleles with Disease Severity and Treatment Response in Iranian Patients with Myasthenia Gravis21
Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit21
Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation21
Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients20
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