Retinitis pigmentosa von Hamel, Christian

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Cone rod dystrophies von Hamel, Christian P

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

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Dominant optic atrophy von Lenaers, Guy, Hamel, Christian, Delettre, Cécile, Amati-Bonneau, Patrizia, Procaccio, Vincent, Bonneau, Dominique, Reynier, Pascal, Milea, Dan

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Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing von Weisschuh, Nicole, Mayer, Anja K, Strom, Tim M, Kohl, Susanne, Glöckle, Nicola, Schubach, Max, Andreasson, Sten, Bernd, Antje, Birch, David G, Hamel, Christian P, Heckenlively, John R, Jacobson, Samuel G, Kamme, Christina, Kellner, Ulrich, Kunstmann, Erdmute, Maffei, Pietro, Reiff, Charlotte M, Rohrschneider, Klaus, Rosenberg, Thomas, Rudolph, Günther, Vámos, Rita, Varsányi, Balázs, Weleber, Richard G, Wissinger, Bernd

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OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution von Elachouri, Ghizlane, Vidoni, Sara, Zanna, Claudia, Pattyn, Alexandre, Boukhaddaoui, Hassan, Gaget, Karen, Yu-Wai-Man, Patrick, Gasparre, Giuseppe, Sarzi, Emmanuelle, Delettre, Cécile, Olichon, Aurélien, Loiseau, Dominique, Reynier, Pascal, Chinnery, Patrick F, Rotig, Agnès, Carelli, Valerio, Hamel, Christian P, Rugolo, Michela, Lenaers, Guy

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Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy von Torriano, Simona, Erkilic, Nejla, Faugère, Valérie, Damodar, Krishna, Hamel, Christian P, Roux, Anne-Francoise, Kalatzis, Vasiliki

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The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial von Zobor, Ditta, Werner, Annette, Stanzial, Franco, Benedicenti, Francesco, Rudolph, Günther, Kellner, Ulrich, Hamel, Christian, Andréasson, Sten, Zobor, Gergely, Strasser, Torsten, Wissinger, Bernd, Kohl, Susanne, Zrenner, Eberhart

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Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission von Gerber, Sylvie, Charif, Majida, Chevrollier, Arnaud, Chaumette, Tanguy, Angebault, Claire, Kane, Mariame Selma, Paris, Aurélien, Alban, Jennifer, Quiles, Mélanie, Delettre, Cécile, Bonneau, Dominique, Procaccio, Vincent, Amati-Bonneau, Patrizia, Reynier, Pascal, Leruez, Stéphanie, Calmon, Raphael, Boddaert, Nathalie, Funalot, Benoit, Rio, Marlène, Bouccara, Didier, Meunier, Isabelle, Sesaki, Hiromi, Kaplan, Josseline, Hamel, Christian P, Rozet, Jean-Michel, Lenaers, Guy

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OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model von Sarzi, Emmanuelle, Seveno, Marie, Piro-Mégy, Camille, Elzière, Lucie, Quilès, Mélanie, Péquignot, Marie, Müller, Agnès, Hamel, Christian P., Lenaers, Guy, Delettre, Cécile

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Gene discovery and prevalence in inherited retinal dystrophies von Hamel, Christian P.

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Fatty acid transport protein 1 regulates retinoid metabolism and photoreceptor development in mouse retina von Cubizolle, Aurélie, Guillou, Laurent, Mollereau, Bertrand, Hamel, Christian P, Brabet, Philippe

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Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes von Meunier, Isabelle, MD, PhD, Manes, Gaël, PhD, Bocquet, Béatrice, PhD, Marquette, Virginie, PhD, Baudoin, Corinne, Puech, Bernard, MD, Defoort-Dhellemmes, Sabine, MD, Audo, Isabelle, MD, PhD, Verdet, Robert, MD, Arndt, Carl, MD, PhD, Zanlonghi, Xavier, MD, Le Meur, Guylène, MD, PhD, Dhaenens, Claire-Marie, PharmD, PhD, Hamel, Christian P., MD, PhD

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Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability von Angebault, Claire, Charif, Majida, Guegen, Naig, Piro-Megy, Camille, Mousson de Camaret, Benedicte, Procaccio, Vincent, Guichet, Pierre-Olivier, Hebrard, Maxime, Manes, Gael, Leboucq, Nicolas, Rivier, François, Hamel, Christian P, Lenaers, Guy, Roubertie, Agathe

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Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles von Sanjurjo-Soriano, Carla, Erkilic, Nejla, Baux, David, Mamaeva, Daria, Hamel, Christian P., Meunier, Isabelle, Roux, Anne-Françoise, Kalatzis, Vasiliki

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Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness von Zeitz, Christina, Jacobson, Samuel G., Hamel, Christian P., Bujakowska, Kinga, Neuillé, Marion, Orhan, Elise, Zanlonghi, Xavier, Lancelot, Marie-Elise, Michiels, Christelle, Schwartz, Sharon B., Bocquet, Béatrice, Antonio, Aline, Audier, Claire, Letexier, Mélanie, Saraiva, Jean-Paul, Luu, Tien D., Sennlaub, Florian, Nguyen, Hoan, Poch, Olivier, Dollfus, Hélène, Lecompte, Odile, Kohl, Susanne, Sahel, José-Alain, Bhattacharya, Shomi S., Audo, Isabelle

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Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations von Liquori, Alessandro, Vaché, Christel, Baux, David, Blanchet, Catherine, Hamel, Christian, Malcolm, Sue, Koenig, Michel, Claustres, Mireille, Roux, Anne-Françoise

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WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity von Grenier, Joanna, MD, Meunier, Isabelle, MD, PhD, Daien, Vincent, MD, PhD, Baudoin, Corinne, BS, Halloy, François, MS, Bocquet, Béatrice, PhD, Blanchet, Catherine, MD, Delettre, Cécile, PhD, Esmenjaud, Etienne, MD, Roubertie, Agathe, MD, PhD, Lenaers, Guy, PhD, Hamel, Christian P., MD, PhD

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The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene von Chung, Daniel C., Bertelsen, Mette, Lorenz, Birgit, Pennesi, Mark E., Leroy, Bart P., Hamel, Christian P., Pierce, Eric, Sallum, Juliana, Larsen, Michael, Stieger, Knut, Preising, Markus, Weleber, Richard, Yang, Paul, Place, Emily, Liu, Emily, Schaefer, Grace, DiStefano-Pappas, Julie, Elci, Okan U., McCague, Sarah, Wellman, Jennifer A., High, Katherine A., Reape, Kathleen Z.

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ER-mitochondria cross-talk is regulated by the Ca2+ sensor NCS1 and is impaired in Wolfram syndrome von Angebault Claire, Fauconnier Jérémy, Patergnani Simone, Rieusset, Jennifer, Danese, Alberto, Affortit, Corentin A, Jagodzinska Jolanta, Mégy Camille, Quiles Mélanie, Cazevieille Chantal, Korchagina Julia, Bonnet-Wersinger Delphine, Milea, Dan, Hamel, Christian, Pinton Paolo, Thiry, Marc, Lacampagne Alain, Delprat Benjamin, Delettre Cécile

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