Newsletter Registration
Donate

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

Select One
Effects of oral salbutamol treatment on motor function and muscle strength in congenital myopathies (COMPIS): a single-centre, randomised, open-label, blinded-endpoint, crossover trial in Sweden
Effects of oral salbutamol treatment on motor function and muscle strength in congenital myopathies (COMPIS): a single-centre, randomised, open-label, blinded-endpoint, crossover trial in Sweden

Authors: Eva Michael, Petra Staaf, Marie Gudmundsson, Björn Klanac, Johanna Weichbrodt, Ulrika Edofsson, Inger Johanne Thuestad, Thomas Sejersen, Henrik Imberg, Niklas Darin...

Patient-reported symptoms, fatigue, functional impairment and quality of life in RYR1-related malignant hyperthermia and exertional rhabdomyolysis
Patient-reported symptoms, fatigue, functional impairment and quality of life in RYR1-related malignant hyperthermia and exertional rhabdomyolysis

Luuk R van den Bersselaar, Nick Kruijt, Erik-Jan Kamsteeg, Miguel A Fernandez-Garcia, Susan Treves, Chu-Ya Yang, Babeete Laarhuis, Ignacio Malagon, Gert-Jan Scheffer, Heinz Jungbluth, Marc MJ Snoek, José AE Custers, & Nicol C Voermans...

Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age
Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age

Authors: Michela Bisciglia, Gianmarco Severa, Norma Beatriz Romero, Michel Fardeau, John Rendu, Tanya Stojkovic, Pascal Laforêt, Bruno Eymard, Ana Ferreiro, Edoardo Malfatti, & Anthony Béhin...

Exercise capacity in RYR1-related myopathies
Exercise capacity in RYR1-related myopathies

Authors: Lisa M. K. Chin, Joshua J. Todd, Irene C. Chrismer, Jessica W. Witherspoon, Minal Jain, Melissa Waite, Katherine G. Meilleur, Bart Drinkard, & Tokunbor A. Lawal...

276th ENMC workshop: recommendations on optimal diagnostic pathway and management strategy for patients with acute rhabdomyolysis worldwide. 15th-17th March 2024, Hoofddorp, The Netherlands
276th ENMC workshop: recommendations on optimal diagnostic pathway and management strategy for patients with acute rhabdomyolysis worldwide. 15th-17th March 2024, Hoofddorp, The Netherlands

Authors: Nick Kruijt, Pascal Laforet, John Vissing, Salman Bhai, Mads Godtfeldt Stemmerik, Felix Kleefeld, Nicol C. Voermans, on behalf of the 276th ENMC workshop participants...

Thermoregulation during exercise under controlled hot ambient conditions is comparable in individuals with a history of exertional heat stroke, RYR1-related malignant hyperthermia, and healthy controls
Thermoregulation during exercise under controlled hot ambient conditions is comparable in individuals with a history of exertional heat stroke, RYR1-related malignant hyperthermia, and healthy controls

Authors: Nick Kruijt, Sanne A. J. H. van de Campa, Maria T. E. Hopman, Luuk R. van den Bersselaar, Heinz Jungbluth, Thijs M. H. Eijsvogels, Nicol C. Voermans, & Coen C. W. G. Bongers...

Load more Load more

Get Involved

SUPPORT US
Donate
The RYR-1 Foundation is a non-profit, 501(c)(3), public charity--your donation is tax-deductible.
Donate
FUNDRAISE
Host A Fundraiser
Thank you for your interest in raising funds to support The RYR-1 Foundation. Our success depends on the initiative of supporters like YOU.
Fundraise
Close close
Donate
Newsletter Registration