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Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.
Pinard A, Ye W, Fraser SM, Rosenfeld JA, Pichurin P, Hickey SE, Guo D, Cecchi AC, Boerio ML, Guey S, Aloui C, Lee K, Kraemer M, Alyemni SO; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Tournier-Lasserve E, Haider S, Jin SC, Smith ER, Kahle KT, Jan LY, He M, Milewicz DM. Pinard A, et al. Among authors: aloui c. Brain. 2023 Sep 1;146(9):3616-3623. doi: 10.1093/brain/awad172. Brain. 2023. PMID: 37253099 Free PMC article.
The Non-Hemostatic Aspects of Transfused Platelets.
Sut C, Tariket S, Aubron C, Aloui C, Hamzeh-Cognasse H, Berthelot P, Laradi S, Greinacher A, Garraud O, Cognasse F. Sut C, et al. Among authors: aloui c. Front Med (Lausanne). 2018 Feb 27;5:42. doi: 10.3389/fmed.2018.00042. eCollection 2018. Front Med (Lausanne). 2018. PMID: 29536007 Free PMC article. Review.
Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy.
Guey S, Hervé D, Kossorotoff M, Ha G, Aloui C, Bergametti F, Arnould M, Guenou H, Hadjadj J, Dubois Teklali F, Riant F, Balligand JL, Uzan G, Villoutreix BO, Tournier-Lasserve E. Guey S, et al. Among authors: aloui c. Hum Genomics. 2023 Mar 20;17(1):24. doi: 10.1186/s40246-023-00471-x. Hum Genomics. 2023. PMID: 36941667 Free PMC article.
End-Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy.
Aloui C, Hervé D, Marenne G, Savenier F, Le Guennec K, Bergametti F, Verdura E, Ludwig TE, Lebenberg J, Jabeur W, Morel H, Coste T, Demarquay G, Bachoumas P, Cogez J, Mathey G, Bernard E; FREX consortium; Chabriat H, Génin E, Tournier-Lasserve E. Aloui C, et al. Ann Neurol. 2021 Dec;90(6):962-975. doi: 10.1002/ana.26242. Epub 2021 Oct 20. Ann Neurol. 2021. PMID: 34606115
26 results