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Identification of deleterious missense variants of human Piwi like RNA-mediated gene silencing 1 gene and their impact on PAZ domain structure, stability, flexibility and dimension: in silico analysis.
Elkarhat Z, Elkhattabi L, Charoute H, Morjane I, Errouagui A, Carey F, Nasser B, Barakat A, Rouba H. Elkarhat Z, et al. J Biomol Struct Dyn. 2020 Sep;38(15):4600-4606. doi: 10.1080/07391102.2019.1678522. Epub 2019 Oct 17. J Biomol Struct Dyn. 2020. PMID: 31595844
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.
Charif M, Gueguen N, Ferré M, Elkarhat Z, Khiati S, LeMao M, Chevrollier A, Desquiret-Dumas V, Goudenège D, Bris C, Kane S, Alban J, Chupin S, Wetterwald C, Caporali L, Tagliavini F, LaMorgia C, Carbonelli M, Jurkute N, Barakat A, Gohier P, Verny C, Barth M, Procaccio V, Bonneau D, Zanlonghi X, Meunier I, Weisschuh N, Schimpf-Linzenbold S, Tonagel F, Kellner U, Yu-Wai-Man P, Carelli V, Wissinger B, Amati-Bonneau P, Reynier P; European ION Group; Lenaers G. Charif M, et al. Among authors: elkarhat z. Brain Commun. 2021 Apr 7;3(2):fcab063. doi: 10.1093/braincomms/fcab063. eCollection 2021. Brain Commun. 2021. PMID: 34056600 Free PMC article.
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