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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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Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients
Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients

Authors: Simona Zanotti, Francesca Magri, Sabrina Salani, Laura Napoli, Michela Ripolone, Serena Pagliarani, Dario Ronchi, Francesco Fortunato, Patrizia Ciscato, Denise Cassandrini, Fabiana Fattori, Maria Grazia D’Angelo, Emilo Albamonte, Vincenzo Nigro, Monica Sciacco, Stefania Corti, Giacomo Pietro Comi, & Daniela Piga...

EMQN Best Practice Guidelines for Genetic Testing and Reporting in RYR1-related disorders
EMQN Best Practice Guidelines for Genetic Testing and Reporting in RYR1-related disorders

Authors: Rachel L. Robinson, Thatjana Gardeitchik, Meyke I. Schouten, Heinz Jungbluth, Nicol C. Voerman, Kathryn Stowell, Phil M. Hopkins, Thierry Girard, Weronika Gutowska-Ding, Katie Sheils, & Erik-Jan Kamsteeg...

A Proposed North American Approach for Genetic Testing of Individuals at Risk for Malignant Hyperthermia
A Proposed North American Approach for Genetic Testing of Individuals at Risk for Malignant Hyperthermia

Authors: Sheila Riazi, Stacey Watt, Jennifer Plester, & Leslie G. Biesecker...

Incidence and Prevalence of Congenital Myopathies – A Population-Based Study From Western Sweden
Incidence and Prevalence of Congenital Myopathies – A Population-Based Study From Western Sweden

Authors: Eva Michael, Carola Hedberg-Oldfors, Mar Tulinius, Sara Nordström, Anders Oldfors, & Niklas Darin...

Structural basis for simvastatin-induced skeletal muscle weakness associated with type 1 ryanodine receptor T4709M mutation
Structural basis for simvastatin-induced skeletal muscle weakness associated with type 1 ryanodine receptor T4709M mutation

Authors: Gunnar Weninger, Haikel Dridi, Steven Reiken, Qi Yuan, Nan Zhao, Linda Groom, Jennifer Leigh, Yang Liu, Carl Tchagou, Jiayai Kang, Alexander Chang, Estefania Luna-Figueroa, Marco C. Miotto, Anetta Wronska, Robert T. Dirksen, & Andrew R. Marks...

Cryo-electron microscopy reveals sequential binding and activation of Ryanodine Receptors by statin triplets
Cryo-electron microscopy reveals sequential binding and activation of Ryanodine Receptors by statin triplets

Authors: Steven Molinarolo, Carmen R. Valdivia, Héctor H. Valdivia, & Filip Van Petegem...

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