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Page 1
Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.
Charif M, Titah SM, Roubertie A, Desquiret-Dumas V, Gueguen N, Meunier I, Leid J, Massal F, Zanlonghi X, Mercier J, Raynaud de Mauverger E, Procaccio V, Mousson de Camaret B, Lenaers G, Hamel CP. Charif M, et al. Among authors: hamel cp. Am J Med Genet A. 2015 Oct;167A(10):2366-74. doi: 10.1002/ajmg.a.37188. Epub 2015 Jun 10. Am J Med Genet A. 2015. PMID: 26061759
Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.
Angebault C, Charif M, Guegen N, Piro-Megy C, Mousson de Camaret B, Procaccio V, Guichet PO, Hebrard M, Manes G, Leboucq N, Rivier F, Hamel CP, Lenaers G, Roubertie A. Angebault C, et al. Among authors: hamel cp. Hum Mol Genet. 2015 Jul 15;24(14):3948-55. doi: 10.1093/hmg/ddv133. Epub 2015 Apr 21. Hum Mol Genet. 2015. PMID: 25901006
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
Angebault C, Guichet PO, Talmat-Amar Y, Charif M, Gerber S, Fares-Taie L, Gueguen N, Halloy F, Moore D, Amati-Bonneau P, Manes G, Hebrard M, Bocquet B, Quiles M, Piro-Mégy C, Teigell M, Delettre C, Rossel M, Meunier I, Preising M, Lorenz B, Carelli V, Chinnery PF, Yu-Wai-Man P, Kaplan J, Roubertie A, Barakat A, Bonneau D, Reynier P, Rozet JM, Bomont P, Hamel CP, Lenaers G. Angebault C, et al. Among authors: hamel cp. Am J Hum Genet. 2015 Nov 5;97(5):754-60. doi: 10.1016/j.ajhg.2015.09.012. Epub 2015 Oct 22. Am J Hum Genet. 2015. PMID: 26593267 Free PMC article.
Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction.
Roubertie A, Leboucq N, Picot MC, Nogue E, Brunel H, Le Bars E, Manes G, Angebault Prouteau C, Blanchet C, Mondain M, Chevassus H, Amati-Bonneau P, Sarzi E, Pagès M, Villain M, Meunier I, Lenaers G, Hamel CP. Roubertie A, et al. Among authors: hamel cp. J Neurol Sci. 2015 Feb 15;349(1-2):154-60. doi: 10.1016/j.jns.2015.01.008. Epub 2015 Jan 13. J Neurol Sci. 2015. PMID: 25641387
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.
Gerber S, Charif M, Chevrollier A, Chaumette T, Angebault C, Kane MS, 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: hamel cp. Brain. 2017 Oct 1;140(10):2586-2596. doi: 10.1093/brain/awx219. Brain. 2017. PMID: 28969390
128 results