RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine-Reference-Cited by-同舟云学术

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RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine

Published:2014-08 Issue:8 Volume:24 Page:707-712
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Illingworth M.A.,Main M.,Pitt M.,Feng L.,Sewry C.A.,Gunny R.,Vorstman E.,Beeson D.,Manzur A.,Muntoni F.,Robb S.A.

Publisher

Elsevier BV

Subject

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

Reference20 articles.

1. Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores;Monnier;Hum Mutat,2008

2. Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion;Clarke;Hum Mutat,2010

3. Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders;Treves;Neuromuscul Disord,2005

4. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor 1 gene;Jungbluth;Neurology,2005

5. RYR1 mutations are a common cause of congenital myopathy with central nuclei;Wilmshurst;Ann Neurol,2010

Cited by 38 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. Update on RYR1-related myopathies;Current Opinion in Neurology;2024-07-12

2. Molecular mechanisms and therapeutic strategies for neuromuscular diseases;Cellular and Molecular Life Sciences;2024-04-28

3. Tubular aggregate myopathy causing progressive fatiguable weakness;Practical Neurology;2023-11-03

4. Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort;Brain;2023-09-18

5. Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine;European Journal of Medical Genetics;2023-03

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