Cone rod dystrophies

por Hamel, Christian P
Publicado 2007

Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus

por Delettre, Cécile, Lenaers, Guy, Belenguer, Pascale, Hamel, Christian P
Publicado 2003

Fatty acid transport protein 1 regulates retinoid metabolism and photoreceptor development in mouse retina

por Cubizolle, Aurélie, Guillou, Laurent, Mollereau, Bertrand, Hamel, Christian P., Brabet, Philippe
Publicado 2017

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability

por Charif, Majida, Roubertie, Agathe, Salime, Sara, Mamouni, Sonia, Goizet, Cyril, Hamel, Christian P., Lenaers, Guy
Publicado 2015

Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations

por Bocquet, Béatrice, Marzouka, Nour al Dain, Hebrard, Maxime, Manes, Gaël, Sénéchal, Audrey, Meunier, Isabelle, Hamel, Christian P.
Publicado 2013

A Truncated Form of Rod Photoreceptor PDE6 β-Subunit Causes Autosomal Dominant Congenital Stationary Night Blindness by Interfering with the Inhibitory Activity of the γ-Subunit

por Manes, Gaël, Cheguru, Pallavi, Majumder, Anurima, Bocquet, Béatrice, Sénéchal, Audrey, Artemyev, Nikolai O., Hamel, Christian P., Brabet, Philippe
Publicado 2014

Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles

por Sanjurjo-Soriano, Carla, Erkilic, Nejla, Baux, David, Mamaeva, Daria, Hamel, Christian P., Meunier, Isabelle, Roux, Anne-Françoise, Kalatzis, Vasiliki
Publicado 2019

Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family

por Dias, Miguel de Sousa, Hamel, Christian P., Meunier, Isabelle, Varin, Juliette, Blanchard, Steven, Boyard, Fiona, Sahel, José-Alain, Zeitz, Christina
Publicado 2017

Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations

por Manes, Gaël, Mamouni, Sonia, Hérald, Emilie, Richard, Anne-Claire, Sénéchal, Audrey, Aouad, Karim, Bocquet, Béatrice, Meunier, Isabelle, Hamel, Christian P.
Publicado 2017

A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1

por Manes, Gaël, Hebrard, Maxime, Bocquet, Béatrice, Meunier, Isabelle, Coustes-Chazalette, Delphine, Sénéchal, Audrey, Bolland-Augé, Anne, Zelenika, Diana, Hamel, Christian P
Publicado 2011

Phloroglucinol protects retinal pigment epithelium and photoreceptor against all‐trans‐retinal–induced toxicity and inhibits A2E formation

por Cia, David, Cubizolle, Aurélie, Crauste, Céline, Jacquemot, Nathalie, Guillou, Laurent, Vigor, Claire, Angebault, Claire, Hamel, Christian P., Vercauteren, Joseph, Brabet, Philippe
Publicado 2016

Fatp1 Deficiency Affects Retinal Light Response and Dark Adaptation, and Induces Age-Related Alterations

por Chekroud, Karim, Guillou, Laurent, Grégoire, Stephane, Ducharme, Gilles, Brun, Emilie, Cazevieille, Chantal, Bretillon, Lionel, Hamel, Christian P., Brabet, Philippe, Pequignot, Marie O.
Publicado 2012

OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model

por Sarzi, Emmanuelle, Seveno, Marie, Piro-Mégy, Camille, Elzière, Lucie, Quilès, Mélanie, Péquignot, Marie, Müller, Agnès, Hamel, Christian P., Lenaers, Guy, Delettre, Cécile
Publicado 2018

The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy

por Torriano, Simona, Erkilic, Nejla, Baux, David, Cereso, Nicolas, De Luca, Valerie, Meunier, Isabelle, Moosajee, Mariya, Roux, Anne-Francoise, Hamel, Christian P., Kalatzis, Vasiliki
Publicado 2018

Proof of concept for AAV2/5-mediated gene therapy in iPSC-derived retinal pigment epithelium of a choroideremia patient

por Cereso, Nicolas, Pequignot, Marie O, Robert, Lorenne, Becker, Fabienne, De Luca, Valerie, Nabholz, Nicolas, Rigau, Valerie, De Vos, John, Hamel, Christian P, Kalatzis, Vasiliki
Publicado 2014

LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells

por Neuillé, Marion, Cao, Yan, Caplette, Romain, Guerrero-Given, Debbie, Thomas, Connon, Kamasawa, Naomi, Sahel, José-Alain, Hamel, Christian P., Audo, Isabelle, Picaud, Serge, Martemyanov, Kirill A., Zeitz, Christina
Publicado 2017

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

por Roubertie, Agathe, Hieu, Nelson, Roux, Charles-Joris, Leboucq, Nicolas, Manes, Gael, Charif, Majida, Echenne, Bernard, Goizet, Cyril, Guissart, Claire, Meyer, Pierre, Marelli, Cecilia, Rivier, François, Burglen, Lydie, Horvath, Rita, Hamel, Christian P., Lenaers, Guy
Publicado 2018

A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia

por Erkilic, Nejla, Gatinois, Vincent, Torriano, Simona, Bouret, Pauline, Sanjurjo-Soriano, Carla, De Luca, Valerie, Damodar, Krishna, Cereso, Nicolas, Puechberty, Jacques, Sanchez-Alcudia, Rocio, Hamel, Christian P., Ayuso, Carmen, Meunier, Isabelle, Pellestor, Franck, Kalatzis, Vasiliki
Publicado 2019

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes

por Astuti, Galuh D. N., van den Born, L. Ingeborgh, Khan, M. Imran, Hamel, Christian P., Bocquet, Béatrice, Manes, Gaël, Quinodoz, Mathieu, Ali, Manir, Toomes, Carmel, McKibbin, Martin, El-Asrag, Mohammed E., Haer-Wigman, Lonneke, Inglehearn, Chris F., Black, Graeme C. M., Hoyng, Carel B., Cremers, Frans P. M., Roosing, Susanne
Publicado 2018

A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene

por Meunier, Isabelle, Bocquet, Béatrice, Labesse, Gilles, Zeitz, Christina, Defoort-Dhellemmes, Sabine, Lacroux, Annie, Mauget-Faysse, Martine, Drumare, Isabelle, Gamez, Anne-Sophie, Mathieu, Cyril, Marquette, Virginie, Sagot, Lola, Dhaenens, Claire-Marie, Arndt, Carl, Carroll, Patrick, Remy-Jardin, Martine, Cohen, Salomon Yves, Sahel, José-Alain, Puech, Bernard, Audo, Isabelle, Mrejen, Sarah, Hamel, Christian P.
Publicado 2016