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

Cored in the act: the use of models to understand core myopathies

Authors: Aurora Fusto, Louise A. Moyle, Penney M. Gilbert and Elena Pegoraro...

Search-and-replace genome editing without double-strand breaks or donor DNA

Authors: Andrew V. Anzalone, Peyton B. Randolph, Jessie R. Davis, Alexander A. Sousa, Luke W. Koblan, Jonathan M. Levy, Peter J. Chen, Christopher Wilson, Gregory A. Newby, Aditya Raguram & David R. Liu...

Therapeutic Aspects in Congenital Myopathies

Authors: Heinz Jungbluth, MD, PhD and Francesco Muntoni, MD...

Motor Function Performance in Individuals with RYR1-Related Myopathies

Authors: Jessica W. Witherspoon, PhD, DPT, Carole Vuillerot, PhD, MD, Ruhi P. Vasavada, BS, Melissa R. Waite, MSPT, Monique Shelton, BS, Irene C. Chrismer, RN, BSN, Minal S. Jain, PT, DSc and Katherine H. Meilleur, PPCNP-BC...

Targeting ER stress/ER stress response in myopathies

Author: Ester Zito...

Mouse model of severe recessive RYR1-related myopathy

Authors: Stephanie Brennan, Maricela Garcia-Castañeda, Antonio Michelucci, Nesrin Sabha, Sundeep Malik, Linda Groom, Lan Wei LaPierre, James J. Dowling and Robert T. Dirksen...

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