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Functional analysis of RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia.
White R, Schiemann AH, Burling SM, Bjorksten A, Bulger T, Gillies R, Hopkins PM, Kamsteeg EJ, Machon RG, Massey S, Miller D, Perry M, Snoeck MMJ, Stephens J, Street N, van den Bersselaar LR, Stowell KM. White R, et al. Among authors: van den bersselaar lr. Br J Anaesth. 2022 Dec;129(6):879-888. doi: 10.1016/j.bja.2022.08.029. Epub 2022 Oct 6. Br J Anaesth. 2022. PMID: 36208971 Free article.
[Exertional heat stroke in athletes and soldiers].
van den Bersselaar LR, Bongers CCWG, Eijsvogels TMH, Hopman MTE, van Rijswick MH, Kruijt N, Peters V, Snoeck MMJ, Voermans NC. van den Bersselaar LR, et al. Among authors: van rijswick mh. Ned Tijdschr Geneeskd. 2020 Aug 20;164:D5190. Ned Tijdschr Geneeskd. 2020. PMID: 33030323 Dutch.
Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis.
van den Bersselaar LR, Jungbluth H, Kruijt N, Kamsteeg EJ, Fernandez-Garcia MA, Treves S, Riazi S, Malagon I, van Eijk LT, van Alfen N, van Engelen BGM, Scheffer GJ, Snoeck MMJ, Voermans NC. van den Bersselaar LR, et al. Brain Commun. 2022 Nov 10;4(6):fcac292. doi: 10.1093/braincomms/fcac292. eCollection 2022. Brain Commun. 2022. PMID: 36751502 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. Among authors: van den bersselaar lr. 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.
Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies.
Bachmann C, Franchini M, Van den Bersselaar LR, Kruijt N, Voermans NC, Bouman K, Kamsteeg EJ, Knop KC, Ruggiero L, Santoro L, Nevo Y, Wilmshurst J, Vissing J, Sinnreich M, Zorzato D, Muntoni F, Jungbluth H, Zorzato F, Treves S. Bachmann C, et al. Among authors: van den bersselaar lr. Brain Commun. 2022 Sep 2;4(5):fcac224. doi: 10.1093/braincomms/fcac224. eCollection 2022. Brain Commun. 2022. PMID: 36196089 Free PMC article.
21 results