检索结果 - Gaël Manès

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  1. 1
    Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa

    Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa 由 Michalitsa Diakatou, Gae͏̈l Manes, Béatrice Bocquet, Isabelle Meunier, Vasiliki Kalatzis

    出版 2019
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  2. 2
    Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability

    Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability 由 Claire Angebault, Majida Charif, Naïg Guegen, Camille Piro-Mégy, Bénédicte Mousson de Camaret, Vincent Procaccio, Pierre‐Olivier Guichet, Maxime Hebrard, Gaël Manès, Nicolas Leboucq, François Rivier, Christian Hamel, Guy Lenaers, Agathe Roubertie

    出版 2015
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  3. 3
    Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

    Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy 由 Camille Piro-Mégy, Emmanuelle Sarzi, Aleix Tarrés-Solé, Marie O. Péquignot, Fenna Hensen, Mélanie Quilès, Gaël Manès, Arka Chakraborty, Audrey Sénéćhal, Béatrice Bocquet, Chantal Cazevieille, Agathe Roubertie, Agnès Müller, Majida Charif, David Goudenège, Guy Lenaers, Helmut Wilhelm, Ulrich Kellner, Nicole Weisschuh, Bernd Wissinger, Xavier Zanlonghi, Christian Hamel, Johannes N. Spelbrink, Marı́a Solà, Cécile Delettre

    出版 2019
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  4. 4
    Mutations in IMPG1 Cause Vitelliform Macular Dystrophies

    Mutations in IMPG1 Cause Vitelliform Macular Dystrophies 由 Gaël Manès, Isabelle Meunier, Almudena Ávila‐Fernández, Sandro Banfi, Guylène Le Meur, Xavier Zanlonghi, Marta Cortón, Francesca Simonelli, Philippe Brabet, Gilles Labesse, Isabelle Audo, Saddek Mohand‐Saïd, Christina Zeitz, José‐Alain Sahel, Michel Weber, Hélène Dollfus, Claire‐Marie Dhaenens, Delphine Allorge, Elfride De Baere, Robert K. Koenekoop, Susanne Kohl, Frans P.M. Cremers, Joe G. Hollyfield, Audrey Sénéćhal, Maxime Hebrard, Béatrice Bocquet, Carmen Ayuso, Christian P. Hamel

    出版 2013
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  5. 5
    Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

    Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies 由 Claire Angebault, Pierre‐Olivier Guichet, Yasmina Talmat-Amar, Majida Charif, S. Gerber, Lucas Fares‐Taie, Naïg Guéguen, François Halloy, David Moore, Patrizia Amati‐Bonneau, Gaël Manès, Maxime Hebrard, Béatrice Bocquet, Mélanie Quilès, Camille Piro-Mégy, Marisa Teigell, Cécile Delettre, Mireille Rossel, Isabelle Meunier, Markus N. Preising, Birgit Lorenz, Valério Carelli, Patrick F. Chinnery, Patrick Yu‐Wai‐Man, Josseline Kaplan, Agathe Roubertie, Abdelhamid Barakat, Dominique Bonneau, Pascal Reynier, Jean‐Michel Rozet, Pascale Bomont, Christian P. Hamel, Guy Lenaers

    出版 2015
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  6. 6
    De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

    De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa 由 Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero, Erica G. M. Boonen, Mukhtar Ullah, Nick Zomer, Marc Folcher, Jacques Bijon, Lara K. Holtes, Stephen H. Tsang, Zelia Corradi, K. Bailey Freund, Stefanida Shliaga, Daan M. Panneman, Rebekkah J. Hitti‐Malin, Manir Ali, Alaa AlTalbishi, Sten Andréasson, Georg Ansari, Gavin Arno, Galuh Astuti, Carmen Ayuso, Radha Ayyagari, Sandro Banfi, Eyal Banin, Mirella Telles Salgueiro Barboni, Miriam Bauwens, Tamar Ben‐Yosef, David G. Birch, Pooja Biswas, Fiona Blanco‐Kelly, Béatrice Bocquet, Camiel J. F. Boon, Kari Branham, Alexis Ceecee Britten‐Jones, Kinga M. Bujakowska, Elizabeth L. Cadena, Giacomo Calzetti, Francesca Cancellieri, Luca Cattaneo, Peter Charbel Issa, Naomi Chadderton, Luísa Coutinho Santos, Stephen P. Daiger, Elfride De Baere, Berta de la Cerda, John N. De Roach, Julie De Zaeytijd, Ronny Derks, Claire‐Marie Dhaenens, Ľubica Ďuďáková, Jacque L. Duncan, G. Jane Farrar, Nicolas Feltgen, Lidia Fernández‐Caballero, Juliana Maria Ferraz Sallum, Simone Gana, Alejandro Garanto, Jessica C. Gardner, Christian Gilissen, Kensuke Goto, Roser Gonzàlez‐Duarte, Sam Griffiths‐Jones, Tobias B. Haack, Lonneke Haer‐Wigman, Alison J. Hardcastle, Takaaki Hayashi, Elise Héon, Alexander Hoischen, Josephine Prener Holtan, Carel B. Hoyng, Manuel Benjamin B. Ibanez, Chris F. Inglehearn, Takeshi Iwata, Kaylie Webb-Jones, Vasiliki Kalatzis, Smaragda Kamakari, Marianthi Karali, Ulrich Kellner, Krisztina Knézy, Caroline C. W. Klaver, Robert K. Koenekoop, Susanne Kohl, Taro Kominami, Laura Kuehlewein, Tina M. Lamey, Bart P. Leroy, María Pilar Martín-Gutiérrez, Nelson Martins, L. Mauring, Rina Leibu, Siying Lin, Petra Lišková, Irma López, Víctor Rodríguez, Omar A. Mahroo, Gae͏̈l Manes

    出版 2025
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