Bilaketaren emaitzak - Lucas Fares‐Taie

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  1. 1
    TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy

    TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy nork Sylvain Hanein, Isabelle Perrault, Olivier Roche, S. Gerber, Noman Khadom, Marlène Rio, Nathalie Boddaert, Marc Jeanpierre, Nora Brahimi, Valérie Serre, Dominique Chrétien, Nathalie Delphin, Lucas Fares‐Taie, Sahran Lachheb, Agnès Rötig, Françoise Meire, Arnold Münnich, Jean‐Louis Dufier, Josseline Kaplan, Jean‐Michel Rozet

    Argitaratua 2009
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  2. 2
    ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

    ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia nork Lucas Fares‐Taie, S. Gerber, Nicolas Chassaing, Jill Clayton‐Smith, Sylvain Hanein, Eduardo Silva, Margaux Serey, Valérie Serre, Xavier Gérard, Clarisse Baumann, Ghislaine Plessis, Bénédicte Demeer, Lionel Brétillon, Christine Bole, Patrick Nitschké, Arnold Münnich, Stanislas Lyonnet, Patrick Calvas, Josseline Kaplan, Nicola Ragge, Jean‐Michel Rozet

    Argitaratua 2013
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  3. 3
    <i>GPATCH11</i>variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

    <i>GPATCH11</i>variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment nork Andrea Zanetti, Lucas Fares‐Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu P. Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nathalie Boddaert, Sylvain Briault, Ange‐Line Bruel, Cyril Gitiaux, Karolina Kamińska, Nicole Philip-Sarles, Mathieu Quinodoz, Cristina Santos, Luísa Coutinho Santos, Sabine Sigaudy, Mariana Soeiro, Ana Berta Sousa, Christel Thauvin, Carlo Rivolta, Josseline Kaplan, Jean‐Michel Rozet, Isabelle Perrault

    Argitaratua 2023
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  4. 4
    GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

    GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment nork Isabelle Perrault, Andrea Zanetti, Lucas Fares‐Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu P. Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nathalie Boddaert, Sylvain Briault, Ange‐Line Bruel, Cyril Gitiaux, Karolina Kamińska, Nicole Philip-Sarles, Mathieu Quinodoz, Christina Santos, Luísa Coutinho Santos, Sabine Sigaudy, Mariana Soeiro, Ana Berta Sousa, Christel Thauvin, Josseline Kaplan, Carlo Rivolta, Jean‐Michel Rozet

    Argitaratua 2023
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  5. 5
    Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

    Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome nork S. Gerber, Kamil J. Alzayady, Lydie Bürglen, Dominique Brémond‐Gignac, Valentina Marchesin, Olivier Roche, Marlène Rio, Benoît Funalot, Raphaël Calmon, Alexandra Dürr, Vera Lúcia Gil‐da‐Silva‐Lopes, Maria Fernanda Ribeiro Bittar, Christophe Orssaud, Bénédicte Héron, Edward Ayoub, Patrick Berquin, Nadia Bahi‐Buisson, Christine Bole, Cécile Masson, Arnold Münnich, Matias Simons, Marion Delous, Hélène Dollfus, Nathalie Boddaert, Stanislas Lyonnet, Josseline Kaplan, Patrick Calvas, David I. Yule, Jean‐Michel Rozet, Lucas Fares‐Taie

    Argitaratua 2016
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  6. 6
    Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

    Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies nork 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

    Argitaratua 2015
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  7. 7
    Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

    Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules nork Daniel O Dodd, Sabrina Méchaussier, Patricia L. Yeyati, Fraser McPhie, Jacob R. Anderson, Chen Jing Khoo, Amelia Shoemark, Deepesh Kumar Gupta, Thomas Attard, Maimoona A. Zariwala, Marie Legendre, Diana Bracht, Julia Wallmeier, Miao Gui, Mahmoud R. Fassad, David Parry, Peter Tennant, Alison Meynert, Gabrielle Wheway, Lucas Fares‐Taie, Holly A. Black, Rana Mitri-Frangieh, Catherine Faucon, Josseline Kaplan, Mitali Patel, Lisa McKie, Roly Megaw, Christos Gatsogiannis, Mai A. Mohamed, Stuart Aitken, Philippe Gautier, Finn R. Reinholt, Robert A. Hirst, Chris O’Callaghan, Ketil Heimdal, Mathieu Bottier, Estelle Escudier, Suzanne Crowley, Maria Descartes, Ethylin Wang Jabs, Priti Kenia, Jeanne Amiel, Giacomo Maria Bacci, Claudia Calogero, Viviana Palazzo, Lucia Tiberi, Ulrike Blümlein, Andrew V. Rogers, Jennifer Wambach, D.J. Wegner, Anne B. Fulton, Margaret A. Kenna, Margaret Rosenfeld, Ingrid A. Holm, Alan J. Quigley, Emma A. Hall, Laura C. Murphy, Diane Cassidy, Alex von Kriegsheim, Jean‐François Papon, Laurent Pasquier, Marlène Murris, James D. Chalmers, Claire Hogg, Kenneth Macleod, Don S. Urquhart, Stefan Unger, Timothy J. Aitman, Serge Amselem, Margaret W. Leigh, Michael R. Knowles, Heymut Omran, Hannah M. Mitchison, Alan Brown, Joseph A. Marsh, Julie P. I. Welburn, Shih-Chieh Ti, Amjad Horani, Jean‐Michel Rozet, Isabelle Perrault, Pleasantine Mill

    Argitaratua 2024
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