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Research article

First published 2011-3

Analysis of Human Cultured Myotubes Responses Mediated by Ryanodine Receptor 1

M. Kobayashi, K. Mukaida, T. Migita [...]

Anaesthesia and Intensive Care

Open access

Research article

First published 2021-07-30

Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI

Tokunbor A. Lawal, Aneesh Patankar, Joshua J. Todd [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2013-3

Clinical Features and Ryanodine Receptor Type 1 Gene Mutation Analysis in a Chinese Family With Central Core Disease

Xingzhi Chang, Yiwen Jin, Haijuan Zhao [...]

Journal of Child Neurology

Open access

Research article

First published 2017

Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia

Remai Parker, Anja H. Schiemann, Elaine Langton [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2015-3

Analysis of the Entire Ryanodine Receptor type 1 and Alpha 1 Subunit of the Dihydropyridine Receptor (CACNA1S) Coding Regions for Variants Associated with Malignant Hyperthermia in Australian Families

R. L. Gillies, A. R. Bjorksten, D. Du Sart [...]

Anaesthesia and Intensive Care

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Research article

First published 2022-7

The effects of dantrolene in the presence or absence of ryanodine receptor type 1 variants in individuals predisposed to malignant hyperthermia

Yuko Noda, Keiko Mukaida, Hirotsugu Miyoshi [...]

Anaesthesia and Intensive Care

Retricted access

Research article

First published 2016-09

Dystrophin Threshold Level Necessary for Normalization of Neuronal Nitric Oxide Synthase,Inducible Nitric Oxide Synthase,and Ryanodine Receptor-Calcium Release Channel Type 1 Nitrosylation in Golden Retriever Muscular Dystrophy Dystrophinopathy

Christel Gentil, Caroline Le Guiner, Sestina Falcone [...]

Human Gene Therapy

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

Retricted access

Research article

First published 2003-09

Calcium Release from Sarcoplasmic Reticulum Is Facilitated in Human Myotubes Derived from Carriers of the Ryanodine Receptor Type 1 Mutations Ile2182Phe and Gly2375Ala

M. Wehner, H. Rueffert, F. Koenig [...]

Genetic Testing and Molecular Biomarkers

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