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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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Oral Dantrolene for Myopathic Symptoms in Malignant Hyperthermia–Susceptible Patients: A 25-Year Retrospective Cohort Study of Adverse Effects and Tolerability
Oral Dantrolene for Myopathic Symptoms in Malignant Hyperthermia–Susceptible Patients: A 25-Year Retrospective Cohort Study of Adverse Effects and Tolerability

Authors: Carlos A. Ibarra Moreno, Natalia Kraeva, Elena Zvaritch, Heinz Jungbluth, Nicol C. Voermans, & Sheila Riazi...

Genetics of Exertional Heat Illness: Revealing New Associations and Expanding Heterogeneity
Genetics of Exertional Heat Illness: Revealing New Associations and Expanding Heterogeneity

Authors: Nyamkhishig Sambuughin, Ognoon Mungunsukh, Michael G. Klein, Mingqiang Ren, Peter Bedocs, Josh B Kazman, Kristen Cofer, Liam P. Friel, Beth McNally, Kyung Kwon, Mark C. Haigney, Jeffrey C. Leggit, Marzena Pazgier, Patricia A. Deuster, & Francis G. O’Connor...

Compound heterozygous RYR1-RM mouse model reveals disease pathomechanisms and muscle adaptations to promote postnatal survival
Compound heterozygous RYR1-RM mouse model reveals disease pathomechanisms and muscle adaptations to promote postnatal survival

Authors: Chen Liang, Sundeep Malik, Miao He, Linda Groom, Sara K. Ture, Thomas N. O’Connor, Craig N. Morrell, & Robert T. Dirksen...

Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy
Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy

Authors: Sören Janßen, Leoni S. Erbe, Moritz Kneifel, Matthias Vorgerd, Kristina Döring, Krzysztof P. Lubieniecki, Joanna M. Lubieniecka, Wanda M. Gerding, Nicolas Casade, Anne-Katrin Güttsches, Christoph Heyer, Thomas Lücke, Hoa Huu Phuc Nguyen, Cornelia Köhler, & Sabine Hoffjan...

Individuals and Families Affected by RYR1-Related Diseases – The Patient/Caregiver Perspective
Individuals and Families Affected by RYR1-Related Diseases – The Patient/Caregiver Perspective

Authors: Sanne A.J.H. van de Camp, Lizan Stinissen, Andrew Huseth, Brentney Simon, Jennifer Ryan, Anna Sarkozy, Filip Van Petegem, Michael F. Goldberg, Heinz Jungbluth, Johann Bohm, Wija Oortwijn, Robert T. Dirksen & Nicol C. Voermans...

Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative review
Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative review

Authors: Carlos A. Ibarra Moreno, Helga C. A. Silva, Nicol C. Voermans, Heinz Jungbluth, Luuk R. van den Bersselaar, John Rendu, Agnieszka Cieniewicz, Philip M. Hopkins, & Sheila Riazi...

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