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Page 1
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: blanchet c. 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
Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene.
Titah SM, Meunier I, Blanchet C, Lopez S, Rondouin G, Lenaers G, Amati-Bonneau P, Reynier P, Paquis-Flucklinger V, Hamel CP. Titah SM, et al. Among authors: blanchet c. Eur J Ophthalmol. 2012 Mar-Apr;22(2):254-8. doi: 10.5301/EJO.2011.8370. Eur J Ophthalmol. 2012. PMID: 21623591 Free article.
[Stridor or not stridor].
Mondain M, Blanchet C. Mondain M, et al. Among authors: blanchet c. Arch Pediatr. 2010 Jun;17(6):602-3. doi: 10.1016/S0929-693X(10)70018-X. Arch Pediatr. 2010. PMID: 20654800 French. No abstract available.
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.
Bocquet B, Lacroux A, Surget MO, Baudoin C, Marquette V, Manes G, Hebrard M, Sénéchal A, Delettre C, Roux AF, Claustres M, Dhaenens CM, Rozet JM, Perrault I, Bonnefont JP, Kaplan J, Dollfus H, Amati-Bonneau P, Bonneau D, Reynier P, Audo I, Zeitz C, Sahel JA, Paquis-Flucklinger V, Calvas P, Arveiler B, Kohl S, Wissinger B, Blanchet C, Meunier I, Hamel CP. Bocquet B, et al. Among authors: blanchet c. Ophthalmic Epidemiol. 2013;20(1):13-25. doi: 10.3109/09286586.2012.737890. Ophthalmic Epidemiol. 2013. PMID: 23350551
Sensorineural hearing loss in OPA1-linked disorders.
Leruez S, Milea D, Defoort-Dhellemmes S, Colin E, Crochet M, Procaccio V, Ferré M, Lamblin J, Drouin V, Vincent-Delorme C, Lenaers G, Hamel C, Blanchet C, Juul G, Larsen M, Verny C, Reynier P, Amati-Bonneau P, Bonneau D. Leruez S, et al. Among authors: blanchet c. Brain. 2013 Jul;136(Pt 7):e236. doi: 10.1093/brain/aws340. Epub 2013 Feb 4. Brain. 2013. PMID: 23384603 Free article. No abstract available.
Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration.
Buret L, Rebillard G, Brun E, Angebault C, Pequignot M, Lenoir M, Do-Cruzeiro M, Tournier E, Cornille K, Saleur A, Gueguen N, Reynier P, Amati-Bonneau P, Barakat A, Blanchet C, Chinnery P, Yu-Wai-Man P, Kaplan J, Roux AF, Van Camp G, Wissinger B, Boespflug-Tanguy O, Giraudet F, Puel JL, Lenaers G, Hamel C, Delprat B, Delettre C. Buret L, et al. Among authors: blanchet c. Cell Death Discov. 2016 Mar 7;2:16017. doi: 10.1038/cddiscovery.2016.17. Cell Death Discov. 2016. PMID: 27275396 Free PMC article.
240 results