Associated Papers
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 2025
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Congenital myopathies in adults: A diagnosis not to overlook.
Pinto MJ et al.
Acta Neurologica Scandinavica, 2022
Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.
Cotta A et al.
Genes, 2022
Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients.
Galleni Leão L et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2020
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
RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.
Samões R et al.
Journal of Neuromuscular Diseases, 2017
A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy.
Remiche G et al.
Neuromuscular Disorders : Nmd, 2015
Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.
Yan Z et al.
Nature, 2015
Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal Region.
Jung NY et al.
Journal of Clinical Neurology (seoul, Korea), 2015
Ryanodine myopathies without central cores--clinical, histopathologic, and genetic description of three cases.
Rocha J et al.
Pediatric Neurology, 2014
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.
Walsh R et al.
Journal of Medical Genetics, 2014
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K et al.
Orphanet Journal of Rare Diseases, 2013
Ca2+ release in muscle fibers expressing R4892W and G4896V type 1 ryanodine receptor disease mutants.
Lefebvre R et al.
Plos One, 2013
150th ENMC International Workshop: Core Myopathies, 9-11th March 2007, Naarden, The Netherlands.
Jungbluth H et al.
Neuromuscular Disorders : Nmd, 2008
Ryanodine receptor as a new therapeutic target of heart failure and lethal arrhythmia.
Yano M
Circulation Journal : Official Journal of the Japanese Circulation Society, 2008
Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms.
Lyfenko AD et al.
Human Mutation, 2007
Diseases associated with altered ryanodine receptor activity.
Durham WJ et al.
Sub-cellular Biochemistry, 2007
Mutations in RYR1 in malignant hyperthermia and central core disease.
Robinson R et al.
Human Mutation, 2006
Mechanisms of Disease: ryanodine receptor defects in heart failure and fatal arrhythmia.
Yano M et al.
Nature Clinical Practice. Cardiovascular Medicine, 2006
Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.
Treves S et al.
Neuromuscular Disorders : Nmd, 2005
Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population.
Sambuughin N et al.
Anesthesiology, 2005
Intracellular Ca2+ dynamics in malignant hyperthermia and central core disease: established concepts, new cellular mechanisms involved.
Avila G
Cell Calcium, 2005
111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands.
Jungbluth H et al.
Neuromuscular Disorders : Nmd, 2004
Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease.
Ducreux S et al.
The Journal of Biological Chemistry, 2004
Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene.
Sei Y et al.
Anesthesiology, 2004
Central core disease: clinical, pathological, and genetic features.
Quinlivan RM et al.
Archives of Disease in Childhood, 2003
The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation-contraction uncoupling in central core disease.
Avila G et al.
The Journal of General Physiology, 2003
Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.
Tilgen N et al.
Human Molecular Genetics, 2001
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.
Monnier N et al.
Human Molecular Genetics, 2001
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0