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ER-mitochondria cross-talk is regulated by the Ca2+ sensor NCS1 and is impaired in Wolfram syndrome.
Angebault C, Fauconnier J, Patergnani S, Rieusset J, Danese A, Affortit CA, Jagodzinska J, Mégy C, Quiles M, Cazevieille C, Korchagina J, Bonnet-Wersinger D, Milea D, Hamel C, Pinton P, Thiry M, Lacampagne A, Delprat B, Delettre C. Angebault C, et al. Among authors: cazevieille c. Sci Signal. 2018 Oct 23;11(553):eaaq1380. doi: 10.1126/scisignal.aaq1380. Sci Signal. 2018. PMID: 30352948 Free article.
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: cazevieille c. J Clin Invest. 2020 Jan 2;130(1):143-156. doi: 10.1172/JCI128513. J Clin Invest. 2020. PMID: 31550237 Free PMC article.
Expression of the Opa1 mitochondrial protein in retinal ganglion cells: its downregulation causes aggregation of the mitochondrial network.
Kamei S, Chen-Kuo-Chang M, Cazevieille C, Lenaers G, Olichon A, Bélenguer P, Roussignol G, Renard N, Eybalin M, Michelin A, Delettre C, Brabet P, Hamel CP. Kamei S, et al. Among authors: cazevieille c. Invest Ophthalmol Vis Sci. 2005 Nov;46(11):4288-94. doi: 10.1167/iovs.03-1407. Invest Ophthalmol Vis Sci. 2005. PMID: 16249510
A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium.
Meunier I, Lenaers G, Bocquet B, Baudoin C, Piro-Megy C, Cubizolle A, Quilès M, Jean-Charles A, Cohen SY, Merle H, Gaudric A, Labesse G, Manes G, Péquignot M, Cazevieille C, Dhaenens CM, Fichard A, Ronkina N, Arthur SJ, Gaestel M, Hamel CP. Meunier I, et al. Among authors: cazevieille c. Hum Mol Genet. 2016 Mar 1;25(5):916-26. doi: 10.1093/hmg/ddv624. Epub 2016 Jan 6. Hum Mol Genet. 2016. PMID: 26744326
SPACR Encoded by IMPG1 Is Essential for Photoreceptor Survival by Interplaying between the Interphotoreceptor Matrix and the Retinal Pigment Epithelium.
Olivier G, Brabet P, Pirot N, Broyon M, Guillou L, Cazevieille C, Sar C, Quiles M, Sarzi E, Pequignot M, Andreo E, Roubertie A, Meunier I, Muller A, Kalatzis V, Manes G. Olivier G, et al. Among authors: cazevieille c. Genes (Basel). 2022 Aug 23;13(9):1508. doi: 10.3390/genes13091508. Genes (Basel). 2022. PMID: 36140676 Free PMC 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: cazevieille c. Pediatr Res. 2007 Aug;62(2):156-62. doi: 10.1203/PDR.0b013e31809fda89. Pediatr Res. 2007. PMID: 17597652
A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype.
Manes G, Joly W, Guignard T, Smirnov V, Berthemy S, Bocquet B, Audo I, Zeitz C, Sahel J, Cazevieille C, Sénéchal A, Deleuze JF, Blanché-Koch H, Boland A, Carroll P, Geneviève D, Zanlonghi X, Arndt C, Hamel CP, Defoort-Dhellemmes S, Meunier I. Manes G, et al. Among authors: cazevieille c. Hum Mol Genet. 2017 Nov 15;26(22):4367-4374. doi: 10.1093/hmg/ddx322. Hum Mol Genet. 2017. PMID: 28973654 Free article.
54 results