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347 results

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The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.
Chao de la Barca JM, Simard G, Amati-Bonneau P, Safiedeen Z, Prunier-Mirebeau D, Chupin S, Gadras C, Tessier L, Gueguen N, Chevrollier A, Desquiret-Dumas V, Ferré M, Bris C, Kouassi Nzoughet J, Bocca C, Leruez S, Verny C, Miléa D, Bonneau D, Lenaers G, Martinez MC, Procaccio V, Reynier P. Chao de la Barca JM, et al. Among authors: reynier p. Brain. 2016 Nov 1;139(11):2864-2876. doi: 10.1093/brain/aww222. Brain. 2016. PMID: 27633772
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.
Baris O, Delettre C, Amati-Bonneau P, Surget MO, Charlin JF, Catier A, Derieux L, Guyomard JL, Dollfus H, Jonveaux P, Ayuso C, Maumenee I, Lorenz B, Mohammed S, Tourmen Y, Bonneau D, Malthièry Y, Hamel C, Reynier P. Baris O, et al. Among authors: reynier p. Hum Mutat. 2003 Jun;21(6):656. doi: 10.1002/humu.9152. Hum Mutat. 2003. PMID: 14961560
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.
Reynier P, Amati-Bonneau P, Verny C, Olichon A, Simard G, Guichet A, Bonnemains C, Malecaze F, Malinge MC, Pelletier JB, Calvas P, Dollfus H, Belenguer P, Malthièry Y, Lenaers G, Bonneau D. Reynier P, et al. J Med Genet. 2004 Sep;41(9):e110. doi: 10.1136/jmg.2003.016576. J Med Genet. 2004. PMID: 15342707 Free PMC article. No abstract available.
347 results