Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies-Reference-Cited by-同舟云学术

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

Published:2012-04-04 Issue:6 Volume:33 Page:981-988
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Klein Andrea,Lillis Suzanne,Munteanu Iulia,Scoto Mariacristina,Zhou Haiyan,Quinlivan Ros,Straub Volker,Manzur Adnan Y.,Roper Helen,Jeannet Pierre-Yves,Rakowicz Wojtek,Jones David Hilton,Jensen Uffe Birk,Wraige Elizabeth,Trump Natalie,Schara Ulrike,Lochmuller Hanns,Sarkozy Anna,Kingston Helen,Norwood Fiona,Damian Maxwell,Kirschner Janbernd,Longman Cheryl,Roberts Mark,Auer-Grumbach Michaela,Hughes Imelda,Bushby Kate,Sewry Caroline,Robb Stephanie,Abbs Stephen,Jungbluth Heinz,Muntoni Francesco

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference57 articles.

1. Prevalence of congenital myopathies in a representative pediatric united states population;Amburgey;Ann Neurol,2011

2. Malignant hyperthermia mutation sites in the Leu2442-Pro2477 (DP4) region of RyR1 (ryanodine receptor 1) are clustered in a structurally and functionally definable area;Bannister;Biochem J,2007

3. Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization;Bevilacqua;Neuropathol Appl Neurobiol,2011

4. The I4895T mutation in the type 1 ryanodine receptor induces fiber-type specific alterations in skeletal muscle that mimic premature aging;Boncompagni;Aging Cell,2010

5. Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases;Broman;Br J Anaesth,2009

Cited by 147 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 novel RYR1 pathogenic variant − Common among Libyan Jews and associated with a broad phenotypic spectrum;Gene;2024-11

2. Massive reduction of RyR1 in muscle spindles of mice carrying recessiveRyr1mutations alters proprioception and causes scoliosis;2024-08-09

3. Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene;Stem Cell Research;2024-06

4. Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy;Journal of Neuromuscular Diseases;2024-04-30

5. The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3‐related muscular dystrophy;Muscle & Nerve;2024-02