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Treatments for RYR1-related disorders.
Raga S, Voermans N, Perez-Neri I, Dowling J, Jungbluth H, Baranello G, Servais L, Tillema A, Wilmshurst J. Raga S, et al. Among authors: dowling j. Cochrane Database Syst Rev. 2024 Dec 10;12(12):CD014439. doi: 10.1002/14651858.CD014439. Cochrane Database Syst Rev. 2024. PMID: 39655671 Free PMC article.
RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022.
O'Connor TN, van den Bersselaar LR, Chen YS, Nicolau S, Simon B, Huseth A, Todd JJ, Van Petegem F, Sarkozy A, Goldberg MF, Voermans NC, Dirksen RT; RYR1 Myopathy Consortium. O'Connor TN, et al. J Neuromuscul Dis. 2023;10(1):135-154. doi: 10.3233/JND-221609. J Neuromuscul Dis. 2023. PMID: 36404556 Free PMC article. No abstract available.
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.
Morton SU, Costain G, French CE, Wakeling E, Szuto A, Christodoulou J, Cohn R, Darras BT, Wojcik MH, D'Gama AM, Dowling JJ, Lunke S, Muntoni F, Raymond L, Rowitch D, Beggs AH, Stark Z, Agrawal PB. Morton SU, et al. Among authors: dowling jj. Neurology. 2025 Jan 14;104(1):e210106. doi: 10.1212/WNL.0000000000210106. Epub 2024 Dec 19. Neurology. 2025. PMID: 39700446
1,238 results