Neuromuscular Disorders

Papers
(The H4-Index of Neuromuscular Disorders 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 2020-10-01 to 2024-10-01.)
ArticleCitations
Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go110
The 2021 version of the gene table of neuromuscular disorders (nuclear genome)49
Recent advances in nemaline myopathy46
The 2022 version of the gene table of neuromuscular disorders (nuclear genome)42
X-linked myotubular myopathy36
Congenital muscular dystrophies: What is new?35
The DMD gene and therapeutic approaches to restore dystrophin34
Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen32
Guillain-Barré-Strohl syndrome and COVID-19: Case report and literature review31
Congenital myasthenic syndromes: where do we go from here?28
Understanding European patient expectations towards current therapeutic development in spinal muscular atrophy28
Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group25
Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study24
Sarcoglycanopathies: an update24
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease23
Disease-modifying effects of edasalonexent, an NF-κB inhibitor, in young boys with Duchenne muscular dystrophy: Results of the MoveDMD phase 2 and open label extension trial21
The 2023 version of the gene table of neuromuscular disorders (nuclear genome)21
Nusinersen treatment of older children and adults with spinal muscular atrophy21
256th ENMC international workshop: Myositis specific and associated autoantibodies (MSA-ab): Amsterdam, The Netherlands, 8-10 October 202120
Prevalence and associated factors of fatigue in autoimmune myasthenia gravis20
Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland20
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