Neuromuscular Disorders

Papers
(The H4-Index of Neuromuscular Disorders 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 2021-05-01 to 2025-05-01.)
ArticleCitations
P.174 TRIM32 related muscular dystrophy mimicking inflammatory myopathy: Clinical and histopathological features in two siblings126
P137 Prophylactic use of cardiac medications and prolonged survival in Duchenne muscular dystrophy58
Raised CK and acute kidney injury following intense exercise in three patients with a history of exercise intolerance due to homozygous mutations in SLC2A950
P.77 Clinical presentation of two Korean patients with adolescent-onset very-long-chain acyl-CoA dehydrogenase deficiency44
P.53 Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients42
DMD – ANIMAL MODELS41
P.17 Importance of routine pulmonary check-up prior to ventilatory support in patients with Duchenne muscular dystrophy36
P.30 Correlation of histopathological skeletal muscle biopsy features with quantitative muscle-MRI parameters36
P145 Analysis of the natural evolution of SV95C in ambulant patients with Duchenne muscular dystrophy35
P61 High dose localized muscle irradiation: Hedgehog pathway as a new therapeutic target33
P.224 Non-5q spinal muscular atrophy in twin sisters with SPG11/CMT2X associated spatacsin gene mutation32
P443 A case of Charcot-Marie-Tooth Type 4F31
P33 RKER-065 ameliorated muscle and bone loss in a progressive murine model of Duchenne muscular dystrophy30
P295 Functional improvements by ataluren in dysferlinopathy mice with a compound heterozygous mutations carrying one nonsense variant30
P311 Facioscapulohumeral muscular dystrophy European patient survey: assessing patient preferences in clinical trial participation 27
P304 JOURNEY: a multicenter, longitudinal natural history study of limb girdle muscular dystrophy27
INV09 Novel repeat disorders in muscle disease: the emergence of OPDM26
P154 The generation of a GNE myopathy patient-derived biobank enables the study of disease-relevant cellular phenotypes across multiple pathogenic variants25
P164 Development of a myotube model for C-terminal titin studies24
SMA - TREATMENT23
P251 Vamorolone improves Becker muscular dystrophy and increases dystrophin protein in novel bmx model mice23
APPLICATION OF NEXT GENERATION TECHNOLOGIES22
SMA - TREATMENT22
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