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A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.
Beijer D, Dohrn MF, Rebelo A, Danzi MC, Grosz BR, Ellis M, Kumar KR, Vucic S, Vais H, Weissenrieder JS, Lunko O, Paudel U, Simpson LC, Camarena V, Raposo J, Saporta M, Arcia Y, Xu I, Feely S, Record CJ, Blake J, Reilly MM, Scherer SS, Kennerson M, Lee YC, Foskett JK, Shy ME, Zuchner S. Beijer D, et al. Among authors: vais h. Brain. 2025 Jan 7;148(1):227-237. doi: 10.1093/brain/awae206. Brain. 2025. PMID: 38938188
InsP3R channel gating altered by clustering?
Vais H, Foskett JK, Mak DO. Vais H, et al. Nature. 2011 Oct 12;478(7368):E1-2; discussion E2-3. doi: 10.1038/nature10493. Nature. 2011. PMID: 21993761 Free PMC article. No abstract available.
Patch-clamp electrophysiology of intracellular Ca2+ channels.
Mak DO, Vais H, Cheung KH, Foskett JK. Mak DO, et al. Among authors: vais h. Cold Spring Harb Protoc. 2013 Sep 1;2013(9):787-97. doi: 10.1101/pdb.top066217. Cold Spring Harb Protoc. 2013. PMID: 24003191 Free PMC article.
Nuclear patch-clamp electrophysiology of Ca2+ channels.
Mak DO, Vais H, Cheung KH, Foskett JK. Mak DO, et al. Among authors: vais h. Cold Spring Harb Protoc. 2013 Sep 1;2013(9):885-91. doi: 10.1101/pdb.prot073064. Cold Spring Harb Protoc. 2013. PMID: 24003194 Free PMC article.
40 results