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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 (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

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Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study
Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study

Authors: E. van Ruitenbeeka, J.A.E. Custers, C. Verhaakb , M. Snoeck, C.E. Erasmus, E.J. Kamsteeg, M.I. Schouten, C. Coleman, S. Treves, B.G. Van Engelen, H. Jungbluth, N.C. Voermans...

Correlation of phenotype with genotype and protein structure in RYR1-related disorders
Correlation of phenotype with genotype and protein structure in RYR1-related disorders

Authors: Joshua J. Todd, Vatsala Sagar, Tokunbor A. Lawal, Carolyn Allen, Muslima S. Razaqyar, Monique S. Shelton, Irene C. Chrismer, Xuemin Zhang, Mary M. Cosgrove, Anna Kuo, Ruhi Vasavada, Minal S. Jain, Melissa Waite, Dinusha Rajapakse, Jessica W. Witherspoon, Graeme Wistow, Katherine G. Meilleur...

6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies
6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies

Authors: Jessica W. Witherspoon, Ruhi P. Vasavada, Melissa R. Waite, Monique Shelton, Irene C. Chrismer, Paul G. Wakim, Minal S. Jain, Carsten G. Bönnemann and Katherine G. Meilleur...

Efficient High-Throughput Screening by Endoplasmic Reticulum Ca2+ Measurement to Identify Inhibitors of Ryanodine Receptor Ca2+ -Release Channels
Efficient High-Throughput Screening by Endoplasmic Reticulum Ca2+ Measurement to Identify Inhibitors of Ryanodine Receptor Ca2+ -Release Channels

Authors: Takashi Murayama, Nagomi Kurebayashi, Mari Ishigami-Yuasa, Shuichi Mori, Yukina Suzuki, Ryunosuke Akima, Haruo Ogawa, Junji Suzuki, Kazunori Kanemaru, Hideto Oyamada, Yuji Kiuchi, Masamitsu Iino, Hiroyuki Kagechika and Takashi Sakurai...

The genetics of congenital myopathies
The genetics of congenital myopathies

Authors: Hernan D. Gonorazky, Carsten G. Bӧnnemann, James J. Dowling...

Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings
Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings

Authors: Joshua J. Todd, Muslima S. Razaqyar, Jessica W. Witherspoon, Tokunbor A. Lawal, Ami Mankodi, Irene C. Chrismer, Carolyn Allen, Mary D. Meyer, Anna Kuo, Monique S. Shelton, Kim Amburgey, Dmitriy Niyazov, Pierre Fequiere, Carsten G. Bönnemann, James J. Dowling and Katherine G. Meilleur...

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