Recent advances in nemaline myopathy-Reference-Cited by-同舟云学术

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Recent advances in nemaline myopathy

Published:2021-10 Issue:10 Volume:31 Page:955-967
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Laitila Jenni,Wallgren-Pettersson Carina

Funder

Sigrid Juséliuksen Säätiö

Finska Läkaresällskapet

Muscular Dystrophy UK

Association Française contre les Myopathies

Medicinska Understödsföreningen Liv och Hälsa

Academy of Finland

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference95 articles.

1. Light and electron microscopic studies of “myogranules” in child with hypotonia and muscle weakness;Conen;Can Med Assoc J,1963

2. Nemaline myopathy: a new congenital myopathy;Shy;Brain,1963

3. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy;Pelin;Proc Natl Acad Sci U S A,1999

4. Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy;Nowak;Nat Genet,1999

5. A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy;Laing;Nat Genet,1995

Cited by 48 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands;Neuromuscular Disorders;2024-10

2. 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

3. Secondary mitochondrial dysfunction across the spectrum of hereditary and acquired muscle disorders;Mitochondrion;2024-09

4. Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin‐deficient muscle;The Journal of Physiology;2024-08-31

5. Nemaline Myopathy With a Compound Heterozygous Mutation: A Case Report;Cureus;2024-07-04

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