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Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
Fasano G, Muto V, Radio FC, Venditti M, Mosaddeghzadeh N, Coppola S, Paradisi G, Zara E, Bazgir F, Ziegler A, Chillemi G, Bertuccini L, Tinari A, Vetro A, Pantaleoni F, Pizzi S, Conti LA, Petrini S, Bruselles A, Prandi IG, Mancini C, Chandramouli B, Barth M, Bris C, Milani D, Selicorni A, Macchiaiolo M, Gonfiantini MV, Bartuli A, Mariani R, Curry CJ, Guerrini R, Slavotinek A, Iascone M, Dallapiccola B, Ahmadian MR, Lauri A, Tartaglia M. Fasano G, et al. Among authors: bris c. Nat Commun. 2022 Nov 11;13(1):6841. doi: 10.1038/s41467-022-34354-x. Nat Commun. 2022. PMID: 36369169 Free PMC article.
Long-Term Persistence of Mitochondrial DNA Instability in HIV-Exposed Uninfected Children during and after Exposure to Antiretroviral Drugs and HIV.
Desquiret-Dumas V, D'Ottavi M, Monnin A, Goudenège D, Méda N, Vizeneux A, Kankasa C, Tylleskar T, Bris C, Procaccio V, Nagot N, Van de Perre P, Reynier P, Molès JP. Desquiret-Dumas V, et al. Among authors: bris c. Biomedicines. 2022 Jul 25;10(8):1786. doi: 10.3390/biomedicines10081786. Biomedicines. 2022. PMID: 35892686 Free PMC article.
Mitochondrial DNA Instability Is Common in HIV-Exposed Uninfected Newborns.
Monnin A, Desquiret-Dumas V, Méda N, Goudenège D, Bris C, Kankasa C, Singata-Madliki M, Tylleskar T, Procaccio V, Nagot N, Van de Perre P, Reynier P, Molès JP. Monnin A, et al. Among authors: bris c. J Clin Med. 2021 May 28;10(11):2399. doi: 10.3390/jcm10112399. J Clin Med. 2021. PMID: 34071681 Free PMC article.
Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.
Felhi R, Charif M, Sfaihi L, Mkaouar-Rebai E, Desquiret-Dumas V, Kallel R, Bris C, Goudenège D, Guichet A, Bonneau D, Procaccio V, Reynier P, Amati-Bonneau P, Hachicha M, Fakhfakh F, Lenaers G. Felhi R, et al. Among authors: bris c. Mol Biol Rep. 2020 May;47(5):3779-3787. doi: 10.1007/s11033-020-05425-3. Epub 2020 Apr 21. Mol Biol Rep. 2020. PMID: 32319008
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.
Garret P, Bris C, Procaccio V, Amati-Bonneau P, Vabres P, Houcinat N, Tisserant E, Feillet F, Bruel AL, Quéré V, Philippe C, Sorlin A, Tran Mau-Them F, Vitobello A, Costa JM, Boughalem A, Trost D, Faivre L, Thauvin-Robinet C, Duffourd Y. Garret P, et al. Among authors: bris c. Hum Mutat. 2019 Dec;40(12):2430-2443. doi: 10.1002/humu.23885. Epub 2019 Aug 26. Hum Mutat. 2019. PMID: 31379041
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: bris c. 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.
The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.
Frey S, Geffroy G, Desquiret-Dumas V, Gueguen N, Bris C, Belal S, Amati-Bonneau P, Chevrollier A, Barth M, Henrion D, Lenaers G, Bonneau D, Reynier P, Procaccio V. Frey S, et al. Among authors: bris c. Biochim Biophys Acta Mol Basis Dis. 2017 Jan;1863(1):284-291. doi: 10.1016/j.bbadis.2016.10.028. Epub 2016 Nov 1. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 27815040 Free article.
85 results