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News

Welcome to our News 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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Muscle weakness in Ryr1I4895T/WT knock-in mice as a result of reduced ryanodine receptor Ca2+ ion permeation and release from the sarcoplasmic reticulum
Muscle weakness in Ryr1I4895T/WT knock-in mice as a result of reduced ryanodine receptor Ca2+ ion permeation and release from the sarcoplasmic reticulum

Authors: Ryan E. Loy, Murat Orynbayev, Le Xu, Zoita Andronache, Simona Apostol, Elena Zvaritch, David H. MacLennan, Gerhard Meissner, Werner Melzer, and Robert T. Dirksen...

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

Authors: J. A. Bevilacqua, Nicole Monnier, Marcus Bitoun, Bruno Eymard, Ana Ferreiro, Soledad Monges, Fabiana Lubieniecki, Ana Taratuto, Annie Laquerrière, Kristin Claeys, et al...

RYR1 Mutations Are a Common Cause of Congenital Myopathies with Central Nuclei
RYR1 Mutations Are a Common Cause of Congenital Myopathies with Central Nuclei

Authors: J.M. Wilmshurst, MD, S. Lillis, BSc, H. Zhou, PhD, K. Pillay, MBChB, H. Henderson, PhD, W. Kress, PhD, C.R. Müller, PhD, A. Ndondo, MBBS, V. Cloke, BSc2 T. Cullup, BSc, E. Bertini, MD, C. Bönnemann, PhD, V. Straub, PhD R. Quinlivan, MD, J.J. Dowling, PhD, S. Al-Sarraj, MD, S. Treves, PhD, S. Abbs, PhD, A.Y. Manzur, MBBS, C.A. Sewry, PhD, F. Muntoni, MD, and H. Jungbluth, MD, PhD...

Remodeling of ryanodine receptor complex causes ‘‘leaky’’ channels: A molecular mechanism for decreased exercise capacity
Remodeling of ryanodine receptor complex causes ‘‘leaky’’ channels: A molecular mechanism for decreased exercise capacity

Authors: Andrew M. Bellinger, Steven Reiken, Miroslav Dura, Peter W. Murphy, Shi-Xian Deng, Donald W. Landry, David Nieman, Stephan E. Lehnart, Mahendranauth Samaru, Alain LaCampagne, and Andrew R. Marks...

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

Authors: Haiyan Zhou, Heinz Jungbluth, Caroline A. Sewry, Lucy Feng, Enrico Bertini, Kate Bushby, Volker Straub, Helen Roper, Michael R. Rose, Martin Brockington, Maria Kinali, Adnan Manzur, Stephanie Robb, Richard Appleton, Sonia Messina, Adele D’Amico, Ros Quinlivan, Michael Swash, Clemens R. Muller, Susan Brown, Susan Treves and Francesco Muntoni...

Epigenetic Allele Silencing Unveils Recessive RYR1 Mutations in Core Myopathies
Epigenetic Allele Silencing Unveils Recessive RYR1 Mutations in Core Myopathies

Authors: Haiyan Zhou, Martin Brockington, Heinz Jungbluth, David Monk, Philip Stanier, Caroline A. Sewry, Gudrun E. Moore, and Francesco Muntoni...

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