Perspectives of drug-based neuroprotection targeting mitochondria von Procaccio, V., Bris, C., Chao de la Barca, J.M., Oca, F., Chevrollier, A., Amati-Bonneau, P., Bonneau, D., Reynier, P.

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MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or ce... von Le Meur, N, Holder-Espinasse, M, Jaillard, S, Goldenberg, A, Joriot, S, Amati-Bonneau, P, Guichet, A, Barth, M, Charollais, A, Journel, H, Auvin, S, Boucher, C, Kerckaert, J-P, David, V, Manouvrier-Hanu, S, Saugier-Veber, P, Frébourg, T, Dubourg, C, Andrieux, J, Bonneau, D

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Multiethnic involvement in autosomal-dominant optic atrophy in Singapore von Loo, J L, Singhal, S, Rukmini, A V, Tow, S, Amati-Bonneau, P, Procaccio, V, Bonneau, D, Gooley, J J, Reynier, P, Ferré, M, Milea, D

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The wide POLG -related spectrum: An integrated view von Béreau, M, Anheim, M, Echaniz-Laguna, A, Magot, A, Verny, C, Goideau-Sevrain, M, Barth, M, Amati-Bonneau, P, Allouche, S, Ayrignac, X, Bédat-Millet, A.-L, Guyant-Maréchal, L, Kuntzer, T, Ochsner, F, Petiot, P, Vial, C, Omer, S, Sole, G, Taieb, G, Carvalho, N, Tio, G, Kremer, S, Acquaviva-Bourdain, C, de Camaret, B. Mousson, Tranchant, C

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SIMULTANEOUS MFN2 AND GDAP1 MUTATIONS CAUSE MAJOR MITOCHONDRIAL DEFECTS IN A PATIENT WITH CMT von CASSEREAU, J, CASASNOVAS, C, PROCACCIO, V, CHEVROLLIER, A, GUEGUEN, N, MALINGE, M.-C, GUILLET, V, REYNIER, P, BONNEAU, D, AMATI-BONNEAU, P, BANCHS, I, VOLPINI, V

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MULTIPLE SCLEROSIS-LIKE DISORDER IN OPA1-RELATED AUTOSOMAL DOMINANT OPTIC ATROPHY von VERNY, C, LOISEAU, D, BONNEAU, D, SCHERER, C, LEJEUNE, P, CHEVROLLIER, A, GUEGUEN, N, GUILLET, V, DUBAS, F, REYNIER, P, AMATI-BONNEAU, P

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Early‐onset Behr syndrome due to compound heterozygous mutations in OPA1 von Bonneau, D., Lenaers, G., Procaccio, V., Amati‐Bonneau, P., Reynier, P.

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Novel pathophysiological mechanisms in dominant optic atrophy beyond the mitochondrial dynamics equilibrium von Lenaers, G., Charif, M., Amati‐Bonneau, P., la Barca, J. Chao, Procaccio, V., Chevrollier, A., Leruez, S., Bonneau, D., Reynier, P.

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OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract von Reynier, P, Amati-Bonneau, P, Verny, C, Olichon, A, Simard, G, Guichet, A, Bonnemains, C, Malecaze, F, Malinge, M C, Pelletier, J B, Calvas, P, Dollfus, H, Belenguer, P, Malthièry, Y, Lenaers, G, Bonneau, D

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The genetic pathophysiology of dominant optic atrophy von Lenaers, G., Charif, M., Amati‐Bonneau, P., Chao de la Barca, J., Procaccio, V., Gerber, S., Kaplan, J., Roubertie, A., Meunier, I., Reynier, P., Rozet, J.M., Hamel, C., Bonneau, D.

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Mitochondrial dysfunction affecting visual pathways von Leruez, S., Amati-Bonneau, P., Verny, C., Reynier, P., Procaccio, V., Bonneau, D., Milea, D.

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Sensorineural hearing loss in OPA1‐linked disorders von BONNEAU, D, MILEA, D, LERUEZ, S, DEFOORT‐DHELLEMMES, S, CROCHET, M, LAMBLIN, J, LENAERS, G, PROCACCIO, V, REYNIER, P, BONNEAU‐AMATI, P

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Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy von Lamirel, Cédric, Cassereau, Julien, Cochereau, Isabelle, Vignal-Clermont, Catherine, Pajot, Olivier, Tanguy, Jean-Yves, Zanlonghi, Xavier, Reynier, Pascal, Amati-Bonneau, Patrizia, Dubas, Frédéric, Bonneau, Dominique, Verny, Christophe

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OPA3-Related Autosomal Dominant Optic Atrophy and Cataract with Ataxia and Areflexia von Ayrignac, X., Liauzun, C., Lenaers, G., Renard, D., Amati-Bonneau, P., de Sèze, J., Dollfus, H., Hamel, C., Bonneau, D., Labauge, P.

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OPA1‐related sensorineural hearing loss von LERUEZ, S, BONNEAU, D, AMATI‐BONNEAU, P, DEFOORT‐DHELLEMMES, S, CROCHET, M, DROUIN, V, BLANCHET, C, JUUL, G, LARSEN, M, LAENERS, G, REYNIER, P, MILEA, D

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PAW34 Mutations in OPA1 expand the clinical phenotype of mitochondrial disease von Chinnery, P, Jackson, M, Amati-Bonneau, P, Yu-Wai-Man, P, Gorman, G, Duffey, P, Baker, M, Zeviani, M, Horvath, R, Miller, J

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Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration von 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, A-F, Van Camp, G, Wissinger, B, Boespflug-Tanguy, O, Giraudet, F, Puel, J-L, Lenaers, G, Hamel, C, Delprat, B, Delettre, C

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eOPA1: An online database for OPA1 mutations von Ferré, Marc, Amati-Bonneau, Patrizia, Tourmen, Yves, Malthièry, Yves, Reynier, Pascal

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OPA1 R445H mutation in optic atrophy associated with sensorineural deafness von Amati-Bonneau, Patrizia, Guichet, Agnès, Olichon, Aurélien, Chevrollier, Arnaud, Viala, Frédérique, Miot, Stéphanie, Ayuso, Carmen, Odent, Sylvie, Arrouet, Catherine, Verny, Christophe, Calmels, Marie-Noelle, Simard, Gilles, Belenguer, Pascale, Wang, Jing, Puel, Jean-Luc, Hamel, Christian, Malthièry, Yves, Bonneau, Dominique, Lenaers, Guy, Reynier, Pascal

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Hereditary optic atrophies von Scherer, C, Procaccio, V, Ferre, M, Guillet, V, Reynier, P, Amati-Bonneau, P, Dubas, F, Bonneau, D, Verny, C

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