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 2021-04-01 to 2025-04-01.)
ArticleCitations
MYOTONIC DYSTROPHY123
PURA syndrome: Neuromuscular junction manifestations with potential therapeutic implications58
WMS Information48
WMS 2022 Flyer44
Mortality of symptomatic children with spinal muscular atrophy in the era of disease-modifying therapies42
Neuromuscular Disorders Special Issue 2021 Marking the 90th birthday of Victor Dubowitz, Founding Editor-in-Chief40
407P RGX-202, an investigational gene therapy for the treatment of Duchenne muscular dystrophy: interim clinical data35
248P Spinal muscular atrophy in Latin American: patient journey observed in regional registry35
414P Pulmonary function in Colombian non-ambulatory patients with Duchenne muscular dystrophy treated with Ataluren33
17O Schwann cell transduction and PMP22 target engagement in non-human primates supports translation of RNAi-based gene therapy for CMT1A32
623P Characteristics of Japanese patient with facioscapulohumeral muscular dystrophy in the Japanese nationwide registry of muscular dystrophy (Remudy)31
186P Demographic and clinical characteristics of risdiplam-treated and untreated adult patients with SMA30
23P Establishing the genetic diagnosis in patients with suspected recessive titinopathy29
261P Insights into facioscapulohumeral dystrophy in African individuals: clinical and molecular findings from a collaborative study28
535P Cytochrome c oxidase (COX) deficiency due to a novel homozygous COX6B1 pathogenic missense variant27
167P SnRNAseq analysis of muscle samples of patients with SMA reveals novel pathogenic pathways and open avenues for new therapeutic strategies26
456P Gait analysis by IMU sensor in myotonic dystrophy type 126
328P Navigating dystrophinopathies: dual diagnosis and their implications26
103P NMD670, a first-in-class skeletal muscle ClC-1 Inhibitor in Charcot-Marie-Tooth disease: the SYNAPSE-CMT phase 2 study25
311P Development and pilot validation of the DuMAND checklist to screen for Duchenne muscular dystrophy-associated neurobehavioral difficulties (DuMAND)23
584P Nuclear envelope and splicing alterations in selected muscular dystrophies22
10O The neonatal screening of SMA in Ukraine: the 18 months of experience22
0.18102192878723