Journal•ISSN: 0960-8966
Neuromuscular Disorders
Elsevier BV
About: Neuromuscular Disorders is an academic journal published by Elsevier BV. The journal publishes majorly in the area(s): Duchenne muscular dystrophy & Muscular dystrophy. It has an ISSN identifier of 0960-8966. Over the lifetime, 5581 publications have been published receiving 119334 citations.
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TL;DR: A survey of the world literature of the population frequencies of various inherited neuromuscular diseases has been carried out, with a conservative estimate of the overall prevalence among both sexes around 286 x 10(-6).
1,389 citations
TL;DR: The notes of 197 patients with Duchenne muscular dystrophy whose treatment was managed at the Newcastle muscle centre from 1967 to 2002 were reviewed, to determine whether survival has improved over the decades and whether the impact of nocturnal ventilation altered the pattern of survival.
857 citations
Journal Article•
TL;DR: Findings suggest that Kir2.1 plays an important role in developmental signaling in addition to its previously recognized function in controlling cell excitability in skeletal muscle and heart.
853 citations
TL;DR: This poster presents a poster presented at the 2016 European Congress of Neurology and Neurosurgery entitled “Neurosurgery and Rheumatology: Foundations of Clinical Neurosciences, 2nd Ed.” (23-25 May 2016).
720 citations
TL;DR: It is proposed that the duplication in 17p11.2 itself is the disease causing mutation in all the HMSN I families analyzed, and different allelic combinations were found segregating with the duplicates in different families linkage disequilibrium was not a significant factor.
568 citations