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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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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...

An Integrated Diagnosis Strategy for Congenital Myopathies
An Integrated Diagnosis Strategy for Congenital Myopathies

Authors: Johann Böhm, Nasim Vasli, Edoardo Malfatti, Stéphanie Le Gras, Claire Feger, Bernard Jost, Nicole Monnier, Julie Brocard, Hatice Karasoy, Marion Gérard, Maggie C. Walter, Peter Reilich, Valérie Biancalana, Christine Kretz, Nadia Messaddeq, Isabelle Marty, Joël Lunardi, Norma B. Romero, Jocelyn Laporte...

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