Associated Papers
NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.
Malfatti E et al.
Clinical Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 2025
Dual role of the S5 segment in type 1 ryanodine receptor channel gating.
Murayama T et al.
Communications Biology, 2024
Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.
Sarkozy A et al.
Neurology, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Development of a water-soluble ryanodine receptor 1 inhibitor.
Ishida R et al.
Bioorganic & Medicinal Chemistry, 2022
Correlation of Phenotype-Genotype and Protein Structure in RYR1-Related Myopathy.
Chang X et al.
Frontiers in Neurology, 2022
Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.
Fridriksdottir R et al.
European Journal of Human Genetics : Ejhg, 2021
Evaluation of the Core Formation Process in Congenital Neuromuscular Disease With Uniform Type 1 Fiber and Central Core Disease.
Ogasawara M et al.
Journal of Neuropathology and Experimental Neurology, 2020
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
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L et al.
Genes, 2020
Characterization of congenital myopathies at a Korean neuromuscular center.
Park YE et al.
Muscle & Nerve, 2018
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.
Jordan VK et al.
Human Molecular Genetics, 2018
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.
Petrikin JE et al.
Npj Genomic Medicine, 2018
Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort.
Zhao Y et al.
Muscle & Nerve, 2016
Bilateral congenital lumbar hernias in a patient with central core disease--A case report.
Lazier J et al.
Neuromuscular Disorders : Nmd, 2016
Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.
Tian X et al.
Neurology. Genetics, 2015
Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.
Lee JS et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 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
RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.
Zhou H et al.
Human Mutation, 2013
Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.
Bharucha-Goebel DX et al.
Neurology, 2013
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Zhou H et al.
Brain : a Journal of Neurology, 2007
Central core disease due to recessive mutations in RYR1 gene: is it more common than described?
Kossugue PM et al.
Muscle & Nerve, 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
Central core disease is due to RYR1 mutations in more than 90% of patients.
Wu S et al.
Brain : a Journal of Neurology, 2006
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
Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations.
Jungbluth H et al.
Neuromuscular Disorders : Nmd, 2004
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.
Davis MR et al.
Neuromuscular Disorders : Nmd, 2003
Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia.
Parker R et al.
Journal of Neuromuscular Diseases, 0