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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: kamsteeg ej. 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.
Anaesthesia and neuromuscular disorders: what a neurologist needs to know.
van den Bersselaar LR, Snoeck MMJ, Gubbels M, Riazi S, Kamsteeg EJ, Jungbluth H, Voermans NC. van den Bersselaar LR, et al. Among authors: kamsteeg ej. Pract Neurol. 2020 Oct 27:practneurol-2020-002633. doi: 10.1136/practneurol-2020-002633. Online ahead of print. Pract Neurol. 2020. PMID: 33109742 Free PMC article. Review.
RYR1 variant c.38T>G, p.Leu13Arg causes hypersensitivity of the ryanodine receptor-1 and is pathogenic for malignant hyperthermia.
van den Bersselaar LR, Greven T, Bulger T, Voermans NC, van Petegem F, Schiemann AH, Parker R, Burling SM, Jungbluth H, Stowell KM, Kamsteeg EJ, Snoeck MMJ. van den Bersselaar LR, et al. Among authors: kamsteeg ej. Br J Anaesth. 2021 Aug;127(2):e63-e65. doi: 10.1016/j.bja.2021.05.008. Epub 2021 Jun 12. Br J Anaesth. 2021. PMID: 34127251 Free article. No abstract available.
Referral Indications for Malignant Hyperthermia Susceptibility Diagnostics in Patients without Adverse Anesthetic Events in the Era of Next-generation Sequencing.
van den Bersselaar LR, Hellblom A, Gashi M, Kamsteeg EJ, Voermans NC, Jungbluth H, de Puydt J, Heytens L, Riazi S, Snoeck MMJ. van den Bersselaar LR, et al. Among authors: kamsteeg ej. Anesthesiology. 2022 Jun 1;136(6):940-953. doi: 10.1097/ALN.0000000000004199. Anesthesiology. 2022. PMID: 35285867 Free article.
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: kamsteeg ej. Brain Commun. 2022 Sep 2;4(5):fcac224. doi: 10.1093/braincomms/fcac224. eCollection 2022. Brain Commun. 2022. PMID: 36196089 Free PMC article.
225 results