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Page 1
The wide POLG-related spectrum: An integrated view.
Béreau M, Anheim M, Echaniz-Laguna A, Magot A, Verny C, Goideau-Sevrain M, Barth M, Amati-Bonneau P, Allouche S, Ayrignac X, Bédat-Millet AL, Guyant-Maréchal L, Kuntzer T, Ochsner F, Petiot P, Vial C, Omer S, Sole G, Taieb G, Carvalho N, Tio G, Kremer S, Acquaviva-Bourdain C, de Camaret BM, Tranchant C. Béreau M, et al. Among authors: barth m. J Neurol Sci. 2016 Sep 15;368:70-6. doi: 10.1016/j.jns.2016.06.062. Epub 2016 Jun 29. J Neurol Sci. 2016. PMID: 27538604 No abstract available.
Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS.
Desquiret-Dumas V, Gueguen N, Barth M, Chevrollier A, Hancock S, Wallace DC, Amati-Bonneau P, Henrion D, Bonneau D, Reynier P, Procaccio V. Desquiret-Dumas V, et al. Among authors: barth m. Biochim Biophys Acta. 2012 Jun;1822(6):1019-29. doi: 10.1016/j.bbadis.2012.01.010. Epub 2012 Jan 28. Biochim Biophys Acta. 2012. PMID: 22306605 Free PMC article.
Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.
Leman G, Gueguen N, Desquiret-Dumas V, Kane MS, Wettervald C, Chupin S, Chevrollier A, Lebre AS, Bonnefont JP, Barth M, Amati-Bonneau P, Verny C, Henrion D, Bonneau D, Reynier P, Procaccio V. Leman G, et al. Among authors: barth m. Int J Biochem Cell Biol. 2015 Aug;65:91-103. doi: 10.1016/j.biocel.2015.05.017. Epub 2015 May 27. Int J Biochem Cell Biol. 2015. PMID: 26024641
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N'Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, Convers P, Maillart E, Guyant-Marechal L, Hannequin D, Fromager G, Afenjar A, Chantot-Bastaraud S, Valence S, Charles P, Berquin P, Rooryck C, Bouron J, Brice A, Lacombe D, Rossignol R, Stevanin G, Benard G, Burglen L, Durr A, Goizet C, Coupry I. Pilliod J, et al. Among authors: barth m. Ann Neurol. 2015 Dec;78(6):871-86. doi: 10.1002/ana.24509. Epub 2015 Nov 14. Ann Neurol. 2015. PMID: 26288984
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: barth m. 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.
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.
Le Meur N, Holder-Espinasse M, Jaillard S, Goldenberg A, Joriot S, Amati-Bonneau P, Guichet A, Barth M, Charollais A, Journel H, Auvin S, Boucher C, Kerckaert JP, David V, Manouvrier-Hanu S, Saugier-Veber P, Frébourg T, Dubourg C, Andrieux J, Bonneau D. Le Meur N, et al. Among authors: barth m. J Med Genet. 2010 Jan;47(1):22-9. doi: 10.1136/jmg.2009.069732. Epub 2009 Jul 9. J Med Genet. 2010. PMID: 19592390 Free PMC article.
Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
Bonneau D, Colin E, Oca F, Ferré M, Chevrollier A, Guéguen N, Desquiret-Dumas V, N'Guyen S, Barth M, Zanlonghi X, Rio M, Desguerre I, Barnerias C, Momtchilova M, Rodriguez D, Slama A, Lenaers G, Procaccio V, Amati-Bonneau P, Reynier P. Bonneau D, et al. Among authors: barth m. Brain. 2014 Oct;137(Pt 10):e301. doi: 10.1093/brain/awu184. Epub 2014 Jul 10. Brain. 2014. PMID: 25012220 Free article. No abstract available.
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: barth m. 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.
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: barth m. 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.
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: barth m. Brain Commun. 2021 Apr 7;3(2):fcab063. doi: 10.1093/braincomms/fcab063. eCollection 2021. Brain Commun. 2021. PMID: 34056600 Free PMC article.
684 results