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Reversible optic neuropathy with OPA1 exon 5b mutation.
Cornille K, Milea D, Amati-Bonneau P, Procaccio V, Zazoun L, Guillet V, El Achouri G, Delettre C, Gueguen N, Loiseau D, Muller A, Ferré M, Chevrollier A, Wallace DC, Bonneau D, Hamel C, Reynier P, Lenaers G. Cornille K, et al. Among authors: muller a. Ann Neurol. 2008 May;63(5):667-71. doi: 10.1002/ana.21376. Ann Neurol. 2008. PMID: 18360822 Free article.
Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.
Sarzi E, Seveno M, Angebault C, Milea D, Rönnbäck C, Quilès M, Adrian M, Grenier J, Caignard A, Lacroux A, Lavergne C, Reynier P, Larsen M, Hamel CP, Delettre C, Lenaers G, Müller A. Sarzi E, et al. Among authors: muller a. Hum Mol Genet. 2016 Jun 15;25(12):2539-2551. doi: 10.1093/hmg/ddw117. Epub 2016 Jun 3. Hum Mol Genet. 2016. PMID: 27260406
OPA1 encodes a mitochondrial protein with essential biological functions, its main roles residing in the control of mitochondrial membrane dynamics as a pro-fusion protein and prevention of apoptosis. ...Thus, we disclosed a gender-dependent effect on ADOA se …
OPA1 encodes a mitochondrial protein with essential biological functions, its main roles residing in the control of mitochondrial mem …
Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.
Sarzi E, Seveno M, Angebault C, Milea D, Rönnbäck C, Quilès M, Adrian M, Grenier J, Caignard A, Lacroux A, Lavergne C, Reynier P, Larsen M, Hamel CP, Delettre C, Lenaers G, Müller A. Sarzi E, et al. Among authors: muller a. Hum Mol Genet. 2017 Dec 1;26(23):4764. doi: 10.1093/hmg/ddx376. Hum Mol Genet. 2017. PMID: 29045675 No abstract available.
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.
Piro-Mégy C, Sarzi E, Tarrés-Solé A, Péquignot M, Hensen F, Quilès M, Manes G, Chakraborty A, Sénéchal A, Bocquet B, Cazevieille C, Roubertie A, Müller A, Charif M, Goudenège D, Lenaers G, Wilhelm H, Kellner U, Weisschuh N, Wissinger B, Zanlonghi X, Hamel C, Spelbrink JN, Sola M, Delettre C. Piro-Mégy C, et al. Among authors: muller a. J Clin Invest. 2020 Jan 2;130(1):143-156. doi: 10.1172/JCI128513. J Clin Invest. 2020. PMID: 31550237 Free PMC article.
TRPV4 channels mediate the infrared laser-evoked response in sensory neurons.
Albert ES, Bec JM, Desmadryl G, Chekroud K, Travo C, Gaboyard S, Bardin F, Marc I, Dumas M, Lenaers G, Hamel C, Muller A, Chabbert C. Albert ES, et al. Among authors: muller a. J Neurophysiol. 2012 Jun;107(12):3227-34. doi: 10.1152/jn.00424.2011. Epub 2012 Mar 21. J Neurophysiol. 2012. PMID: 22442563 Free article.
The ocular anomalies in a cystinosis animal model mimic disease pathogenesis.
Kalatzis V, Serratrice N, Hippert C, Payet O, Arndt C, Cazevieille C, Maurice T, Hamel C, Malecaze F, Antignac C, Müller A, Kremer EJ. Kalatzis V, et al. Among authors: muller a. Pediatr Res. 2007 Aug;62(2):156-62. doi: 10.1203/PDR.0b013e31809fda89. Pediatr Res. 2007. PMID: 17597652
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.
Olivier G, Corton M, Intartaglia D, Verbakel SK, Sergouniotis PI, Le Meur G, Dhaenens CM, Naacke H, Avila-Fernández A, Hoyng CB, Klevering J, Bocquet B, Roubertie A, Sénéchal A, Banfi S, Muller A, Hamel CL, Black GC, Conte I, Roosing S, Zanlonghi X, Ayuso C, Meunier I, Manes G. Olivier G, et al. Among authors: muller a. J Med Genet. 2021 Aug;58(8):570-578. doi: 10.1136/jmedgenet-2020-107150. Epub 2020 Aug 17. J Med Genet. 2021. PMID: 32817297
6,210 results