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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. 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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Successful Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy
Successful Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy

Authors: Kelly Godbout, Joël Rousseau, and Jacques P. Tremblay...

Orthognathic surgery in RYR1-related congenital myopathy: a patient report
Orthognathic surgery in RYR1-related congenital myopathy: a patient report

Authors: Anneke J. van der Kooi, Jan de Lange, Meyke Schouten, Marc M.J. Snoeck, Wytske A. Hofstra, & Nicol C. Voermans...

Recurrent atraumatic compartment syndrome as a manifestation of genetic neuromuscular disease
Recurrent atraumatic compartment syndrome as a manifestation of genetic neuromuscular disease

Authors: Dennis T. Famili, Miguel A. Fernandez-Garcia, Maria Vanegas, Michael F. Goldberg, Nicol Voermans, Ros Quinlivan, Heinz Jungbluth...

Pancreatitis in RYR1-related disorders
Pancreatitis in RYR1-related disorders

Authors: Dennis T. Famili, Arti Mistry, Oleg Gerasimenko, Julia Gerasimenko, Rachel M. Trib, Eirini Kyrana, Anil Dhawan, Michael F. Goldberg, Nicol Voermans, Tracey Willis, Heinz Jungbluth...

An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities
An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities

Authors: Rubén J. Lopez, Susan Byrne, Mirko Vukcevic, Marijana Sekulic-Jablanovic, Lifen Xu, Marijke Brink, Jay Alamelu, Nicol Voermans, Marc Snoeck, Emma Clement, Francesco Muntoni, Haiyan Zhou, Aleksandar Radunovic, Shehla Mohammed, Elizabeth Wraige, Francesco Zorzato, Susan Treves, Heinz Jungbluth...

Function of a mutant ryanodine receptor (T4709M) linked to congenital myopathy
Function of a mutant ryanodine receptor (T4709M) linked to congenital myopathy

Authors: Zsuzsanna É. Magyar, Judit Hevesi, Linda Groom, Robert T. Dirksen & János Almássy...

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