Slap Negatively Regulates Src Mitogenic Function but Does Not Revert Src-Induced Cell Morphology Changes

von Manes, Gaël, Bello, Paul, Roche, Serge
Veröffentlicht 2000

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

von Diakatou, Michalitsa, Manes, Gaël, Bocquet, Beatrice, Meunier, Isabelle, Kalatzis, Vasiliki
Veröffentlicht in Int J Mol Sci (2019)

Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations

von Bocquet, Béatrice, Marzouka, Nour al Dain, Hebrard, Maxime, Manes, Gaël, Sénéchal, Audrey, Meunier, Isabelle, Hamel, Christian P.
Veröffentlicht 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

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

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

von Manes, Gaël, Mamouni, Sonia, Hérald, Emilie, Richard, Anne-Claire, Sénéchal, Audrey, Aouad, Karim, Bocquet, Béatrice, Meunier, Isabelle, Hamel, Christian P.
Veröffentlicht in Mol Vis (2017)

A ROD–CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY

von Meunier, Isabelle, Bocquet, Béatrice, Charif, Majida, Dhaenens, Claire-Marie, Manes, Gael, Amati-Bonneau, Patrizia, Roubertie, Agathe, Zanlonghi, Xavier, Lenaers, Guy
Veröffentlicht in Retina (2021)

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

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

Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families

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

A novel 110 kDa form of myosin XVIIIA (MysPDZ) is tyrosine-phosphorylated after colony-stimulating factor-1 receptor signalling.

von Cross, Maddalena, Csar, Xavier F, Wilson, Nicholas J, Manes, Gaël, Addona, Theresa A, Marks, Denese C, Whitty, Genevieve A, Ashman, Keith, Hamilton, John A
Veröffentlicht 2004

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa

von Benaglio, Paola, San Jose, Patricia Fernandez, Avila-Fernandez, Almudena, Ascari, Giulia, Harper, Shyana, Manes, Gaël, Ayuso, Carmen, Hamel, Christian, Berson, Eliot L., Rivolta, Carlo
Veröffentlicht 2014

Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!

von Roubertie, Agathe, Charif, Majida, Meyer, Pierre, Manes, Gael, Meunier, Isabelle, Taieb, Guillaume, Junta Morales, Raul, Guichet, Agnès, Delettre, Cecile, Sarzi, Emmanuelle, Leboucq, Nicolas, Rivier, François, Lenaers, Guy
Veröffentlicht in Ann Clin Transl Neurol (2019)

Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients

von Audo, Isabelle, Manes, Gaël, Mohand-Saïd, Saddek, Friedrich, Anne, Lancelot, Marie-Elise, Antonio, Aline, Moskova-Doumanova, Veselina, Poch, Olivier, Zanlonghi, Xavier, Hamel, Christian P., Sahel, José-Alain, Bhattacharya, Shomi S, Zeitz, Christina
Veröffentlicht 2010

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

von 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
Veröffentlicht in Neurol Genet (2018)

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

von 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
Veröffentlicht in Genes (Basel) (2018)

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

von Piro-Mégy, Camille, Sarzi, Emmanuelle, Tarrés-Solé, Aleix, Péquignot, Marie, Hensen, Fenna, Quilès, Mélanie, Manes, Gaël, Chakraborty, Arka, Sénéchal, Audrey, Bocquet, Béatrice, Cazevieille, Chantal, Roubertie, Agathe, Müller, Agnès, Charif, Majida, Goudenège, David, Lenaers, Guy, Wilhelm, Helmut, Kellner, Ulrich, Weisschuh, Nicole, Wissinger, Bernd, Zanlonghi, Xavier, Hamel, Christian, Spelbrink, Johannes N., Sola, Maria, Delettre, Cécile
Veröffentlicht in J Clin Invest (2019)

Mutations in IMPG1 Cause Vitelliform Macular Dystrophies

von Manes, Gaël, Meunier, Isabelle, Avila-Fernández, Almudena, Banfi, Sandro, Le Meur, Guylène, Zanlonghi, Xavier, Corton, Marta, Simonelli, Francesca, Brabet, Philippe, Labesse, Gilles, Audo, Isabelle, Mohand-Said, Saddek, Zeitz, Christina, Sahel, José-Alain, Weber, Michel, Dollfus, Hélène, Dhaenens, Claire-Marie, Allorge, Delphine, De Baere, Elfride, Koenekoop, Robert K., Kohl, Susanne, Cremers, Frans P.M., Hollyfield, Joe G., Sénéchal, Audrey, Hebrard, Maxime, Bocquet, Béatrice, Ayuso García, Carmen, Hamel, Christian P.
Veröffentlicht 2013

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
Veröffentlicht in Am J Hum Genet (2015)

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
Veröffentlicht in Am J Hum Genet (2015)