Associated Papers
Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.
Sarkozy A et al.
Neurology, 2023
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Fusto A et al.
Acta Neuropathologica Communications, 2022
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
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
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
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
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