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

Congenital myopathies – Natural history of a large pediatric cohort

Authors: Irene Colombo, MD, Mariacristina Scoto, PhD, Adnan Y. Manzur, MD, Stephanie A. Robb, MD, Lorenzo Maggi, MD, Vasantha Gowda, MD, Thomas Cullup, BSc, Michael Yau, PhD, Rahul Phadke, MD, Caroline Sewry, PhD, FRCPath, Heinz Jungbluth, MD, PhD, Francesco Muntoni, MD...

Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference

Authors: Sheila Riazi, MD, Natalia Kraeva, PhD, Sheila M. Muldoon, MD, James Dowling, MD, PhD, Clara Ho, MD, Maria-Alexandra Petre, MD, Jerome Parness, MD, PhD, Robert T. Dirksen, PhD, Henry Rosenberg, MD...

Lobe-Specific Calmodulin Binding to Different Ryanodine Receptor Isoforms

Authors: Kelvin Lau, Mandy M. Y. Chan, and Filip Van Petegem...

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

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...