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Huntington's disease alters human neurodevelopment.
Barnat M, Capizzi M, Aparicio E, Boluda S, Wennagel D, Kacher R, Kassem R, Lenoir S, Agasse F, Braz BY, Liu JP, Ighil J, Tessier A, Zeitlin SO, Duyckaerts C, Dommergues M, Durr A, Humbert S. Barnat M, et al. Among authors: kacher r. Science. 2020 Aug 14;369(6505):787-793. doi: 10.1126/science.aax3338. Epub 2020 Jul 16. Science. 2020. PMID: 32675289 Free PMC article.
Altered Cholesterol Homeostasis in Huntington's Disease.
Kacher R, Mounier C, Caboche J, Betuing S. Kacher R, et al. Front Aging Neurosci. 2022 Apr 19;14:797220. doi: 10.3389/fnagi.2022.797220. eCollection 2022. Front Aging Neurosci. 2022. PMID: 35517051 Free PMC article. Review.
CAG repeat mosaicism is gene specific in spinocerebellar ataxias.
Kacher R, Lejeune FX, David I, Boluda S, Coarelli G, Leclere-Turbant S, Heinzmann A, Marelli C, Charles P, Goizet C, Kabir N, Hilab R, Jornea L, Six J, Dommergues M, Fauret AL, Brice A, Humbert S, Durr A. Kacher R, et al. Am J Hum Genet. 2024 May 2;111(5):913-926. doi: 10.1016/j.ajhg.2024.03.015. Epub 2024 Apr 15. Am J Hum Genet. 2024. PMID: 38626762 Free PMC article.