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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: goudenege d. Brain Commun. 2021 Apr 7;3(2):fcab063. doi: 10.1093/braincomms/fcab063. eCollection 2021. Brain Commun. 2021. PMID: 34056600 Free PMC article.
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.
Charif M, Chevrollier A, Gueguen N, Bris C, Goudenège D, Desquiret-Dumas V, Leruez S, Colin E, Meunier A, Vignal C, Smirnov V, Defoort-Dhellemmes S, Drumare Bouvet I, Goizet C, Votruba M, Jurkute N, Yu-Wai-Man P, Tagliavini F, Caporali L, La Morgia C, Carelli V, Procaccio V, Zanlonghi X, Meunier I, Reynier P, Bonneau D, Amati-Bonneau P, Lenaers G. Charif M, et al. Among authors: goudenege d. Neurol Genet. 2020 May 20;6(3):e428. doi: 10.1212/NXG.0000000000000428. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32548275 Free PMC article.
Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion.
Felhi R, Sfaihi L, Charif M, Desquiret-Dumas V, Bris C, Goudenège D, Ammar-Keskes L, Hachicha M, Bonneau D, Procaccio V, Reynier P, Amati-Bonneau P, Lenaers G, Fakhfakh F. Felhi R, et al. Among authors: goudenege d. Clin Chim Acta. 2019 Jan;488:104-110. doi: 10.1016/j.cca.2018.11.003. Epub 2018 Nov 3. Clin Chim Acta. 2019. PMID: 30395865 Free article.
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.
Piro-Mégy C, Sarzi E, Tarrés-Solé A, Péquignot M, Hensen F, Quilès M, Manes G, Chakraborty A, Sénéchal A, Bocquet B, Cazevieille C, Roubertie A, Müller A, Charif M, Goudenège D, Lenaers G, Wilhelm H, Kellner U, Weisschuh N, Wissinger B, Zanlonghi X, Hamel C, Spelbrink JN, Sola M, Delettre C. Piro-Mégy C, et al. Among authors: goudenege d. J Clin Invest. 2020 Jan 2;130(1):143-156. doi: 10.1172/JCI128513. J Clin Invest. 2020. PMID: 31550237 Free PMC article.
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: goudenege d. Genes (Basel). 2022 Jul 5;13(7):1202. doi: 10.3390/genes13071202. Genes (Basel). 2022. PMID: 35885985 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: goudenege d. Biomedicines. 2022 Jul 11;10(7):1665. doi: 10.3390/biomedicines10071665. Biomedicines. 2022. PMID: 35884972 Free PMC article.
Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia.
Bris C, Rouaud T, Desquiret-Dumas V, Gueguen N, Goudenege D, Barth M, Bonneau D, Amati-Bonneau P, Lenaers G, Reynier P, Lebre AS, Procaccio V. Bris C, et al. Among authors: goudenege d. Neurol Genet. 2017 Dec 11;3(6):e205. doi: 10.1212/NXG.0000000000000205. eCollection 2017 Dec. Neurol Genet. 2017. PMID: 29264396 Free PMC article. No abstract available.
Warburg-like effect is a hallmark of complex I assembly defects.
Desquiret-Dumas V, Leman G, Wetterwald C, Chupin S, Lebert A, Khiati S, Le Mao M, Geffroy G, Kane MS, Chevrollier A, Goudenege D, Gadras C, Tessier L, Barth M, Leruez S, Amati-Bonneau P, Henrion D, Bonneau D, Procaccio V, Reynier P, Lenaers G, Gueguen N. Desquiret-Dumas V, et al. Among authors: goudenege d. Biochim Biophys Acta Mol Basis Dis. 2019 Sep 1;1865(9):2475-2489. doi: 10.1016/j.bbadis.2019.05.011. Epub 2019 May 20. Biochim Biophys Acta Mol Basis Dis. 2019. PMID: 31121247 Free article.
37 results