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How relevant are cerebral white matter lesions in the D313Y variant of the α-galactosidase A gene? Neurological, cardiological, laboratory, and MRI data of 21 patients within a follow-up of 3 years.
Strunk D, Becker J, Veltkamp R, Meuth SG, Bauer P, Böttcher T, Rolfs A, Schwitalla JC, Kraemer M. Strunk D, et al. Among authors: kraemer m. Neurol Sci. 2023 Apr;44(4):1375-1381. doi: 10.1007/s10072-022-06533-7. Epub 2022 Dec 2. Neurol Sci. 2023. PMID: 36456878 Review.
De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy.
Guey S, Grangeon L, Brunelle F, Bergametti F, Amiel J, Lyonnet S, Delaforge A, Arnould M, Desnous B, Bellesme C, Hervé D, Schwitalla JC, Kraemer M, Tournier-Lasserve E, Kossorotoff M. Guey S, et al. Among authors: kraemer m. J Med Genet. 2017 Aug;54(8):550-557. doi: 10.1136/jmedgenet-2016-104432. Epub 2017 Mar 25. J Med Genet. 2017. PMID: 28343148
Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians.
Guey S, Kraemer M, Hervé D, Ludwig T, Kossorotoff M, Bergametti F, Schwitalla JC, Choi S, Broseus L, Callebaut I, Genin E, Tournier-Lasserve E; FREX consortium. Guey S, et al. Among authors: kraemer m. Eur J Hum Genet. 2017 Aug;25(8):995-1003. doi: 10.1038/ejhg.2017.92. Epub 2017 Jun 21. Eur J Hum Genet. 2017. PMID: 28635953 Free PMC article.
599 results