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2018 2
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Reply: The expanding neurological phenotype of DNM1L-related disorders.
Gerber S, Charif M, Chevrollier A, Chaumette T, Angebault C, Kane S, Paris A, Alban J, Quiles M, Delettre C, Bonneau D, Procaccio V, Amati-Bonneau P, Reynier P, Leruez S, Calmon R, Boddaert N, Funalot B, Rio M, Bouccara D, Meunier I, Sesaki H, Kaplan J, Hamel CP, Rozet JM, Lenaers G. Gerber S, et al. Among authors: kane s. Brain. 2018 Apr 1;141(4):e29. doi: 10.1093/brain/awy027. Brain. 2018. PMID: 29529130 No abstract available.
Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy.
Charif M, Chevrollier A, Gueguen N, Kane S, Bris C, Goudenège D, Desquiret-Dumas V, Meunier I, Mochel F, Jeanjean L, Varenne F, Procaccio V, Reynier P, Bonneau D, Amati-Bonneau P, Lenaers G. Charif M, et al. Among authors: kane s. Genes (Basel). 2022 Jul 5;13(7):1202. doi: 10.3390/genes13071202. Genes (Basel). 2022. PMID: 35885985 Free PMC article.
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: kane s. Brain Commun. 2021 Apr 7;3(2):fcab063. doi: 10.1093/braincomms/fcab063. eCollection 2021. Brain Commun. 2021. PMID: 34056600 Free PMC article.
Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body Exposure.
Belal S, Goudenège D, Bocca C, Dumont F, Chao De La Barca JM, Desquiret-Dumas V, Gueguen N, Geffroy G, Benyahia R, Kane S, Khiati S, Bris C, Aranyi T, Stockholm D, Inisan A, Renaud A, Barth M, Simard G, Reynier P, Letournel F, Lenaers G, Bonneau D, Chevrollier A, Procaccio V. Belal S, et al. Among authors: kane s. Biomedicines. 2022 Jul 11;10(7):1665. doi: 10.3390/biomedicines10071665. Biomedicines. 2022. PMID: 35884972 Free PMC article.
Primary fibroblasts derived from sporadic amyotrophic lateral sclerosis patients do not show ALS cytological lesions.
Codron P, Cassereau J, Vourc'h P, Veyrat-Durebex C, Blasco H, Kane S, Procaccio V, Letournel F, Verny C, Lenears G, Reynier P, Chevrollier A. Codron P, et al. Among authors: kane s. Amyotroph Lateral Scler Frontotemporal Degener. 2018 Aug;19(5-6):446-456. doi: 10.1080/21678421.2018.1431787. Epub 2018 Jan 31. Amyotroph Lateral Scler Frontotemporal Degener. 2018. PMID: 29382228