Sage Journals: Discover world-class research

Retricted access

Research article

First published 2000-03

RyR1 Modulation by Oxidation and Calmodulin

Susan L. Hamilton, Michael B. Reid

Antioxidants & Redox Signaling

Open access

Research article

First published

Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein

Marine Cacheux, Ariane Blum, Muriel Sébastien [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2023-07-04

Muscle Ultrasound Abnormalities in Individuals with RYR1 -Related Malignant Hyperthermia Susceptibility

Luuk R. van den Bersselaar, Nens van Alfen, Nick Kruijt [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2017

RYR1-Related Myopathies: Clinical,Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre

Raquel Samões, Jorge Oliveira, Ricardo Taipa [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2008-5

Identification of Genetic Mutations in Australian Malignant Hyperthermia Families Using Sequencing of Ryr1 Hotspots

R. L. Gillies, A. R. Bjorksten, M. Davis [...]

Anaesthesia and Intensive Care

Open access

Case report

First published 2023

Oral Dantrolene Reduces Myalgia and Hyperckemia in a Child with RYR1 -Related Exertional Myalgia/Rhabdomyolysis

Elis Vanessa de Lima Silva, Karina Carvalho Donis, Fabiana Rita Camara Machado [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2013-07

Exon Skipping as a Therapeutic Strategy Applied to an RYR1 Mutation with Pseudo-Exon Inclusion Causing a Severe Core Myopathy

John Rendu, Julie Brocard, Eric Denarier [...]

Human Gene Therapy

Open access

Research article

First published 2024

Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver Perspective

Sanne A.J.H. van de Camp, Lizan Stinissen, Andrew Huseth [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2020

Identification and Functional Analysis of RYR1 Variants in a Family with a Suspected Myopathy and Associated Malignant Hyperthermia

Anja H. Schiemann, Cornelia Roesl, Neil Pollock [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2019

Reliability and Validity of Self-Report Questionnaires as Indicators of Fatigue in RYR1-Related Disorders

Anna Kuo, Joshua J. Todd, Jessica W. Witherspoon [...]

Journal of Neuromuscular Diseases

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