Associated Papers
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.
Johnston JJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33767344 (PubMed )
Supplement: NIHMS1689967-supplement-Large_Excel_File.xls › Table_S2
Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.
Lawal TA et al.
Orphanet Journal of Rare Diseases, 2020
Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.
Todd JJ et al.
Frontiers in Neurology, 2018
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K et al.
Orphanet Journal of Rare Diseases, 2013
23919265 (PubMed )
Supplement: 1750-1172-8-117-S1.xlsx › All_Literature_Rev_Patients
Mutated p.4894 RyR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1).
Haraki T et al.
Anesthesia and Analgesia, 2011
150th ENMC International Workshop: Core Myopathies, 9-11th March 2007, Naarden, The Netherlands.
Jungbluth H et al.
Neuromuscular Disorders : Nmd, 2008
Diseases associated with altered ryanodine receptor activity.
Durham WJ et al.
Sub-cellular Biochemistry, 2007
Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.
Ibarra M CA et al.
Anesthesiology, 2006
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0
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