RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022

Collaborators, Affiliations

Collaborators

Affiliations

¹ Department of Pharmacology and Physiology, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA.
² Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
³ Malignant Hyperthermia Investigation Unit, Department of Anaesthesia, Canisius Wilhelmina Hospital, Nijmegen, the Netherlands.
⁴ Department of Biochemistry and Molecular Biology, The Life Sciences Institute, The University of British Columbia, Vancouver, BC, Canada.
⁵ Center for Gene Therapy, Nationwide Children's Hospital, Columbus, OH, U.S.A.
⁶ The RYR-1 Foundation, Pittsburgh, PA, USA.
⁷ National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
⁸ The Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital for Children, London, UK.

PMID: 36404556
PMCID: PMC10023165
DOI: 10.3233/JND-221609

RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022

Thomas N O'Connor et al. J Neuromuscul Dis. 2023.

. 2023;10(1):135-154.

doi: 10.3233/JND-221609.

Authors

Collaborators

Affiliations

¹ Department of Pharmacology and Physiology, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA.
² Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
³ Malignant Hyperthermia Investigation Unit, Department of Anaesthesia, Canisius Wilhelmina Hospital, Nijmegen, the Netherlands.
⁴ Department of Biochemistry and Molecular Biology, The Life Sciences Institute, The University of British Columbia, Vancouver, BC, Canada.
⁵ Center for Gene Therapy, Nationwide Children's Hospital, Columbus, OH, U.S.A.
⁶ The RYR-1 Foundation, Pittsburgh, PA, USA.
⁷ National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
⁸ The Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital for Children, London, UK.

PMID: 36404556
PMCID: PMC10023165
DOI: 10.3233/JND-221609

No abstract available

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Cited by

Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver Perspective.
van de Camp SAJH, Stinissen L, Huseth A, Simon B, Ryan J, Sarkozy A, Van Petegem F, Goldberg MF, Jungbluth H, Böhm J, Oortwijn W, Dirksen RT, Voermans NC. van de Camp SAJH, et al. J Neuromuscul Dis. 2024;11(5):1067-1083. doi: 10.3233/JND-240029. J Neuromuscul Dis. 2024. PMID: 39150833 Free PMC article.
Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.
van den Bersselaar LR, van Alfen N, Kruijt N, Kamsteeg EJ, Fernandez-Garcia MA, Treves S, Riazi S, Yang CY, Malagon I, van Eijk LT, van Engelen BGM, Scheffer GJ, Jungbluth H, Snoeck MMJ, Voermans NC. van den Bersselaar LR, et al. J Neuromuscul Dis. 2023;10(4):541-554. doi: 10.3233/JND-230018. J Neuromuscul Dis. 2023. PMID: 37154182 Free PMC article.

References

1. Amburgey K, McNamara N, Bennett LR, McCormick ME, Acsadi G, Dowling JJ. Prevalence of congenital myopathies in a representative pediatric united states population. Ann Neurol. 2011;70(4):662–5. - PubMed
1. Jungbluth H, Treves S, Zorzato F, Sarkozy A, Ochala J, Sewry C, et al. Congenital myopathies: Disorders of excitation-contraction coupling and muscle contraction. Nat Rev Neurol. 2018;14(3):151–67. - PubMed
1. Westra D, Schouten MI, Stunnenberg BC, Kusters B, Saris CGJ, Erasmus CE, et al. Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service. J Neuromuscul Dis. 2019;6(2):241–58. - PubMed
1. Huang K, Bi FF, Yang H. A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy. Front Neurol. 2021;12:761636. - PMC - PubMed
1. Santulli G, Lewis DR, Marks AR. Physiology and pathophysiology of excitation-contraction coupling: The functional role of ryanodine receptor. J Muscle Res Cell Motil. 2017;38(1):37–45. - PMC - PubMed

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RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022

Collaborators

Affiliations

RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022

Authors

Collaborators

Affiliations

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