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515 results

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Page 1
ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia.
Marelli C, Hamel C, Quiles M, Carlander B, Larrieu L, Delettre C, Sarzi E, Chretien D, Rustin P, Koenig M, Guissart C. Marelli C, et al. Among authors: hamel c. Neurol Genet. 2018 Mar 20;4(2):e225. doi: 10.1212/NXG.0000000000000225. eCollection 2018 Apr. Neurol Genet. 2018. PMID: 29564393 Free PMC article. 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: hamel c. J Clin Invest. 2020 Jan 2;130(1):143-156. doi: 10.1172/JCI128513. J Clin Invest. 2020. PMID: 31550237 Free PMC article.
Dominant optic atrophy.
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D. Lenaers G, et al. Among authors: hamel c. Orphanet J Rare Dis. 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. Orphanet J Rare Dis. 2012. PMID: 22776096 Free PMC article. Review.
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: hamel c. Ann Neurol. 2008 May;63(5):667-71. doi: 10.1002/ana.21376. Ann Neurol. 2008. PMID: 18360822 Free article.
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: hamel c. Sci Signal. 2018 Oct 23;11(553):eaaq1380. doi: 10.1126/scisignal.aaq1380. Sci Signal. 2018. PMID: 30352948 Free article.
Audiological findings in 100 USH2 patients.
Abadie C, Blanchet C, Baux D, Larrieu L, Besnard T, Ravel P, Biboulet R, Hamel C, Malcolm S, Mondain M, Claustres M, Roux AF. Abadie C, et al. Among authors: hamel c. Clin Genet. 2012 Nov;82(5):433-8. doi: 10.1111/j.1399-0004.2011.01772.x. Epub 2011 Sep 30. Clin Genet. 2012. PMID: 21895633
515 results