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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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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...

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

Rhabdomyolysis is a syndrome characterized by muscle breakdown as the common endpoint of multifactorial etiologies and accounts for up to 7% of all cases of acute renal failure (ARF). The reported annual incidence is 26,000 cases in the United States alone...

Severe congenital RYR1-associated myopathy – The expanding clinicopathologic and genetic spectrum
Severe congenital RYR1-associated myopathy – The expanding clinicopathologic and genetic spectrum

Authors: Diana Xerxes Bharucha Goebel, MD, Mariarita Santi, MD, Lıvija Medne, MS, CGC, Kristin Zukosky, BA, Jahannaz Dastgir, DO, Perry B. Shieh, MD, PhD, Thomas Winder, PhD, Gihan Tennekoon, MD, Richard S. Finkel, MD, James J. Dowling, MD, PhD, Nicole Monnier, PhD, Carsten G. Bönnemann, MD...

Ryanodine receptor calcium release channels: lessons from structure–function studies
Ryanodine receptor calcium release channels: lessons from structure–function studies

Authors: Fernando J. Amador, Peter B. Stathopulos, Masahiro Enomoto and Mitsuhiko Ikura...

RyR1 Deficiency in Congenital Myopathies Disrupts Excitation–Contraction Coupling
RyR1 Deficiency in Congenital Myopathies Disrupts Excitation–Contraction Coupling

Authors: Haiyan Zhou, Ori Rokach, Lucy Feng, Iulia Munteanu, Kamel Mamchaoui, Jo M. Wilmshurst, Caroline Sewry,  Adnan Y. Manzur, Komala Pillay, Vincent Mouly, Michael Duchen, Heinz Jungbluth, Susan Treves, and Francesco Muntoni...

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