Nemaline Myopathies
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Pediatrics, Perinatology and Child Health
Reference73 articles.
1. Zebra body myopathy;Lake;J Neurol Sci,1975
2. Nemaline myopathy;Shy;Brain,1963
3. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores;Sambuughin;Am J Hum Genet,2010
4. Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin;Wallgren-Pettersson;Neuromuscul Disord,2004
5. Sporadic late onset nemaline myopathy;Chahin;Neurology,2005
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1. A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6;Journal of Neuromuscular Diseases;2024-09-04
2. eEF1α2 is required for actin cytoskeleton homeostasis in the aging muscle;Disease Models & Mechanisms;2024-08-29
3. Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects;Acta Neuropathologica;2024-04-18
4. Tirasemtiv enhances submaximal muscle tension in an Acta1:p.Asp286Gly mouse model of nemaline myopathy;Journal of General Physiology;2024-02-20
5. Clinical and molecular analysis of nine fetal cases with clinically significant variants causing nemaline myopathy;European Journal of Obstetrics & Gynecology and Reproductive Biology;2024-01
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