Heterogeneity of nemaline myopathy cases with skeletal muscle ?-actin gene mutations-Reference-Cited by-同舟云学术

Heterogeneity of nemaline myopathy cases with skeletal muscle ?-actin gene mutations

Published:2004 Issue:1 Volume:56 Page:86-96
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Agrawal Pankaj B.,Strickland Corinne D.,Midgett Charles,Morales Ana,Newburger Daniel E.,Poulos Melisa A.,Tomczak Kinga K.,Ryan Monique M.,Iannaccone Susan T.,Crawford Tom O.,Laing Nigel G.,Beggs Alan H.

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference32 articles.

1. Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.

2. Clinical and genetic heterogeneity in nemaline myopathy – a disease of skeletal muscle thin filaments

3. Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle α-actin (ACTA1) gene

4. Nemaline myopathy: A clinical study of 143 cases

5. Fetal Akinesia Sequence Caused by Nemaline Myopathy

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1. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with coexisting nemaline myopathy: a case report;Journal of Medical Case Reports;2024-09-04

2. Tirasemtiv enhances submaximal muscle tension in an Acta1:p.Asp286Gly mouse model of nemaline myopathy;Journal of General Physiology;2024-02-20

3. Morphological and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy;Human Molecular Genetics;2023-10-26

4. Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology;The American Journal of Pathology;2023-10

5. Actin polymerization and depolymerization in developing vertebrates;Frontiers in Physiology;2023-09-08