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eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data.
Goudenège D, Bris C, Hoffmann V, Desquiret-Dumas V, Jardel C, Rucheton B, Bannwarth S, Paquis-Flucklinger V, Lebre AS, Colin E, Amati-Bonneau P, Bonneau D, Reynier P, Lenaers G, Procaccio V. Goudenège D, et al. Genet Med. 2019 Jun;21(6):1407-1416. doi: 10.1038/s41436-018-0350-8. Epub 2018 Nov 5. Genet Med. 2019. PMID: 30393377 Free article.
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders.
Bris C, Goudenège D, Desquiret-Dumas V, Gueguen N, Bannwarth S, Gaignard P, Rucheton B, Trimouille A, Allouche S, Rouzier C, Saadi S, Jardel C, Slama A, Barth M, Verny C, Spinazzi M, Cassereau J, Colin E, Armelle M, Pereon Y, Martin-Negrier ML, Paquis-Flucklinger V, Letournel F, Lenaers G, Bonneau D, Reynier P, Amati-Bonneau P, Procaccio V. Bris C, et al. Among authors: goudenege d. Genet Med. 2021 Sep;23(9):1769-1778. doi: 10.1038/s41436-021-01206-w. Epub 2021 May 26. Genet Med. 2021. PMID: 34040194 Free 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.
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.
A snapshot of some pLI score pitfalls.
Ziegler A, Colin E, Goudenège D, Bonneau D. Ziegler A, et al. Among authors: goudenege d. Hum Mutat. 2019 Jul;40(7):839-841. doi: 10.1002/humu.23763. Epub 2019 Apr 29. Hum Mutat. 2019. PMID: 30977936
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