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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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RYR1-related diseases patient-led international research workshop: Novel perspectives, treatments and interventions
RYR1-related diseases patient-led international research workshop: Novel perspectives, treatments and interventions

Authors: Alexis Ruiz, Sofia Benucci, Hervé Meier, Georg Schultz, Katarzyna Buczak, Christoph Handschin, Rodrigo C. G. Pena, Susan Treves, & Francesco Zorzato...

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...

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