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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: jungbluth h. 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.
RYR1 mutations are a common cause of congenital myopathies with central nuclei.
Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, Müller CR, Ndondo A, Cloke V, Cullup T, Bertini E, Boennemann C, Straub V, Quinlivan R, Dowling JJ, Al-Sarraj S, Treves S, Abbs S, Manzur AY, Sewry CA, Muntoni F, Jungbluth H. Wilmshurst JM, et al. Among authors: jungbluth h. Ann Neurol. 2010 Nov;68(5):717-26. doi: 10.1002/ana.22119. Ann Neurol. 2010. PMID: 20839240 Free article.
RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.
Zhou H, Rokach O, Feng L, Munteanu I, Mamchaoui K, Wilmshurst JM, Sewry C, Manzur AY, Pillay K, Mouly V, Duchen M, Jungbluth H, Treves S, Muntoni F. Zhou H, et al. Among authors: jungbluth h. Hum Mutat. 2013 Jul;34(7):986-96. doi: 10.1002/humu.22326. Epub 2013 Apr 17. Hum Mutat. 2013. PMID: 23553787
Epigenetic changes as a common trigger of muscle weakness in congenital myopathies.
Rokach O, Sekulic-Jablanovic M, Voermans N, Wilmshurst J, Pillay K, Heytens L, Zhou H, Muntoni F, Gautel M, Nevo Y, Mitrani-Rosenbaum S, Attali R, Finotti A, Gambari R, Mosca B, Jungbluth H, Zorzato F, Treves S. Rokach O, et al. Among authors: jungbluth h. Hum Mol Genet. 2015 Aug 15;24(16):4636-47. doi: 10.1093/hmg/ddv195. Epub 2015 May 27. Hum Mol Genet. 2015. PMID: 26019235
The neuromuscular and multisystem features of RYR1-related malignant hyperthermia and rhabdomyolysis: A study protocol.
van den Bersselaar LR, Kruijt N, Scheffer GJ, van Eijk L, Malagon I, Buckens S, Custers JA, Helder L, Greco A, Joosten LA, van Engelen BG, van Alfen N, Riazi S, Treves S, Jungbluth H, Snoeck MM, Voermans NC. van den Bersselaar LR, et al. Among authors: jungbluth h. Medicine (Baltimore). 2021 Aug 20;100(33):e26999. doi: 10.1097/MD.0000000000026999. Medicine (Baltimore). 2021. PMID: 34414986 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. Among authors: jungbluth h. J Neuromuscul Dis. 2023;10(4):541-554. doi: 10.3233/JND-230018. J Neuromuscul Dis. 2023. PMID: 37154182 Free PMC article.
Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.
Sarkozy A, Sa M, Ridout D, Fernandez-Garcia MA, Distefano MG, Main M, Sheehan J, Manzur AY, Munot P, Robb S, Wraige E, Quinlivan R, Scoto M, Baranello G, Gowda V, Mein R, Phadke R, Jungbluth H, Muntoni F. Sarkozy A, et al. Among authors: jungbluth h. Neurology. 2023 Oct 10;101(15):e1495-e1508. doi: 10.1212/WNL.0000000000207723. Epub 2023 Aug 29. Neurology. 2023. PMID: 37643885 Free PMC article.
300 results