Neuromuscular Disorders

Papers
(The H4-Index of Neuromuscular Disorders is 19. 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 2021-02-01 to 2025-02-01.)
ArticleCitations
MYOTONIC DYSTROPHY110
Influence of β2 adrenergic receptor genotype on longitudinal measures of forced vital capacity in patients with Duchenne muscular dystrophy54
PURA syndrome: Neuromuscular junction manifestations with potential therapeutic implications42
WMS Information36
Safety and efficacy of tamoxifen in non-ambulant patients with Duchenne muscular dystrophy: a multicentre, randomised, double–blind, placebo–controlled, phase 3 trial (TAMDMD Group B)35
WMS 2022 Flyer34
Neuromuscular Disorders Special Issue 2021 Marking the 90th birthday of Victor Dubowitz, Founding Editor-in-Chief32
407P RGX-202, an investigational gene therapy for the treatment of Duchenne muscular dystrophy: interim clinical data32
248P Spinal muscular atrophy in Latin American: patient journey observed in regional registry28
414P Pulmonary function in Colombian non-ambulatory patients with Duchenne muscular dystrophy treated with Ataluren25
623P Characteristics of Japanese patient with facioscapulohumeral muscular dystrophy in the Japanese nationwide registry of muscular dystrophy (Remudy)24
17O Schwann cell transduction and PMP22 target engagement in non-human primates supports translation of RNAi-based gene therapy for CMT1A24
186P Demographic and clinical characteristics of risdiplam-treated and untreated adult patients with SMA23
23P Establishing the genetic diagnosis in patients with suspected recessive titinopathy21
261P Insights into facioscapulohumeral dystrophy in African individuals: clinical and molecular findings from a collaborative study21
535P Cytochrome c oxidase (COX) deficiency due to a novel homozygous COX6B1 pathogenic missense variant21
328P Navigating dystrophinopathies: dual diagnosis and their implications20
456P Gait analysis by IMU sensor in myotonic dystrophy type 120
167P SnRNAseq analysis of muscle samples of patients with SMA reveals novel pathogenic pathways and open avenues for new therapeutic strategies20
584P Nuclear envelope and splicing alterations in selected muscular dystrophies19
311P Development and pilot validation of the DuMAND checklist to screen for Duchenne muscular dystrophy-associated neurobehavioral difficulties (DuMAND)19
103P NMD670, a first-in-class skeletal muscle ClC-1 Inhibitor in Charcot-Marie-Tooth disease: the SYNAPSE-CMT phase 2 study19
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