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News & Articles

Welcome to our News & Article web page. Here you will find The RYR-1 Foundation’s monthly newsletters, news/press releases, and pertinent medical journal articles.

There is growing medical literature on RYR-1-Related Diseases (RYR-1-RD). Please email info@ryr1.org if there are articles that you think would be valuable to post here. The most recent medical journal articles can be found on PubMed below.

 

PubMed RYR-1-RD Medical Journal Articles

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Lobe-Specific Calmodulin Binding to Different Ryanodine Receptor Isoforms
Lobe-Specific Calmodulin Binding to Different Ryanodine Receptor Isoforms

Authors: Kelvin Lau, Mandy M. Y. Chan, and Filip Van Petegem...

RYR1 Mutations as a Cause of Ophthalmoplegia, Facial Weakness, and Malignant Hyperthermia
RYR1 Mutations as a Cause of Ophthalmoplegia, Facial Weakness, and Malignant Hyperthermia

Authors: Sherin Shaaban, MD, Ph.D.; Leigh  Ramos-Platt, MD; Floyd H. Gilles, MD; Wai-Man Chan, MS; Caroline Andrews, MS; Umberto De Girolami, MD; Joseph Demer, MD, PhD; Elizabeth C. Engle, MD...

Genotype-phenotype correlations in recessive RYR1-related myopathies
Genotype-phenotype correlations in recessive RYR1-related myopathies

Authors: Kimberly Amburgey, Angela Bailey, Jean H Hwang, Mark A Tarnopolsky, Carsten G Bonnemann, Livija Medne, Katherine D Mathews, James Collins, Jasper R Daube, Gregory P Wellman, Brian Callaghan, Nigel F Clarke, and James J Dowling...

Myopathic changes in malignant hyperthermia-susceptible patients
Myopathic changes in malignant hyperthermia-susceptible patients

Author: Henry Rosenberg, MD...

Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation
Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation

Authors: Ruben Attali, Sharon Aharoni, Susan Treves, Ori Rokach, Michal Becker Cohen, Yakov Fellig, Rachel Straussberg, Talya Dor, Muhannad Daana, Stella Mitrani-Rosenbaum, Yoram Nevo...

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

Authors: John Rendu, Julie Brocard, Eric Denarier, Nicole Monnier, France Piétri-Rouxel, Cyriaque Beley, Nathalie Roux-Buisson, Brigitte Gilbert-Dussardier, Marie José Perez, Norma Romero, Luis Garcia,6 Joël Lunardi, Julien Fauré, Anne Fourest-Lieuvin, and Isabelle Marty...

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