A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene-Reference-Cited by-同舟云学术

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

Published:2002-05-21 Issue:6 Volume:51 Page:750-759
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Ferreiro Ana,Monnier Nicole,Romero Norma B.,Leroy Jean-Paul,Bönnemann Carsten,Haenggeli Charles-Antoine,Straub Volker,Voss Wolfgang D.,Nivoche Yves,Jungbluth Heinz,Lemainque Arnaud,Voit Thomas,Lunardi Joël,Fardeau Michel,Guicheney Pascale

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Reference30 articles.

1. A new congenital non-progressive myopathy;Shy;Brain,1956

2. Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers;Engel;Mayo Clin Proc,1971

3. Eightieth ENMC International Workshop on Multi-Minicore Disease: 1st International MmD Workshop;Ferreiro;Neuromuscul Disord,2001

4. Minicore myopathy in children: a clinical and histopathological study of 19 cases;Jungbluth;Neuromuscul Disord,2000

5. Multi-minicore disease-searching for boundaries: phenotype analysis of 38 cases;Ferreiro;Ann Neurol,2000

Cited by 175 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. Propofol directly binds and inhibits skeletal muscle ryanodine receptor 1 (RyR1);2024-01-12

2. Neonatal Neuromuscular Disorders;Avery's Diseases of the Newborn;2024

3. The RyR1 P3528S Substitution Alters Mouse Skeletal Muscle Contractile Properties and RyR1 Ion Channel Gating;International Journal of Molecular Sciences;2023-12-28

4. Three-dimensional perspective on ryanodine receptor mutations causing skeletal and cardiac muscle-related diseases;Current Opinion in Pharmacology;2023-02

5. Neuromuscular Disorders in Neonate;Clinical Anesthesia for the Newborn and the Neonate;2023