Newsletter Registration
Donate

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

Select One
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...

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene
A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Authors: Sissel Løseth, Nicol C. Voermans, Torberg Torbergsen, Sue Lillis, Christoffer Jonsrud, Sigurd Lindal, Erik-Jan Kamsteeg, Martin Lammens, Marcus Broman, Gabriele Dekomien, Paul Maddison, Francesco Muntoni, Caroline Sewry, Aleksandar Radunovic, Marianne de Visser, Volker Straub, Baziel van Engelen, Heinz Jungbluth...

Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom
Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

Authors: L. Maggi , M. Scoto, S. Cirak, S.A. Robb , A. Klein, S. Lillis, T. Cullup, L. Feng, A.Y. Manzur, C.A. Sewry, S. Abbs, H. Jungbluth, F. Muntoni...

Load more Load more

Get Involved

SUPPORT US
Donate
The RYR-1 Foundation is a non-profit, 501(c)(3), public charity--your donation is tax-deductible.
Donate
FUNDRAISE
Host A Fundraiser
Thank you for your interest in raising funds to support The RYR-1 Foundation. Our success depends on the initiative of supporters like YOU.
Fundraise
Close close
Donate
Newsletter Registration