Search Results - Isabelle Audo
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Poppers-Associated Retinal Toxicity by Catherine Vignal‐Clermont, Isabelle Audo, José‐Alain Sahel, Michel Pâques
Published 2010Carta -
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Safety of Intravitreal Gene Therapy for Treatment of Subjects with Leber Hereditary Optic Neuropathy due to Mutations in the Mitochondrial ND4 Gene: The REVEAL Study by Catherine Vignal, Jean‐François Girmens, Isabelle Audo, Saddek Mohand Saïd, Marie‐Hélène Errera, Lise Plaine, Denis O’Shaughnessy, Magali Taiel, José‐Alain Sahel
Published 2021Artigo -
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<scp>LRIT</scp>3 is essential to localize <scp>TRPM</scp>1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation by Marion Neuillé, Catherine W. Morgans, Yan Cao, Elise Orhan, Christelle Michiels, José‐Alain Sahel, Isabelle Audo, Robert M. Duvoisin, Kirill A. Martemyanov, Christina Zeitz
Published 2015Artigo -
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Lrit3 Deficient Mouse (nob6): A Novel Model of Complete Congenital Stationary Night Blindness (cCSNB) by Marion Neuillé, Saïd El Shamieh, Elise Orhan, Christelle Michiels, Aline Antonio, Marie‐Elise Lancelot, Christel Condroyer, Kinga M. Bujakowska, Olivier Poch, José‐Alain Sahel, Isabelle Audo, Christina Zeitz
Published 2014Artigo -
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<i>MERTK</i> mutation update in inherited retinal diseases by Isabelle Audo, Saddek Mohand‐Saïd, Élise Boulanger-Scemama, Xavier Zanlonghi, Christel Condroyer, Vanessa Démontant, Fiona Boyard, Aline Antonio, Cécile Méjécase, Saïd El Shamieh, José‐Alain Sahel, Christina Zeitz
Published 2018Revisão -
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Genotypic and Phenotypic Characterization of P23H Line 1 Rat Model by Elise Orhan, Deniz Dalkara, Marion Neuillé, Christophe Lechauve, Christelle Michiels, Serge Picaud, Thierry Léveillard, José‐Alain Sahel, Muna I. Naash, Matthew M. LaVail, Christina Zeitz, Isabelle Audo
Published 2015Artigo -
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EYS is a major gene for rod-cone dystrophies in France by Isabelle Audo, José‐Alain Sahel, Saddek Mohand‐Saïd, Marie‐Elise Lancelot, Aline Antonio, Veselina Moskova‐Doumanova, Emeline F. Nandrot, Jordan Doumanov, Isabel Barragán, Guillermo Antiñolo, Shomi S. Bhattacharya, Christina Zeitz
Published 2010Artigo -
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Evaluation of Retinal Function and Flicker Light-Induced Retinal Vascular Response in Normotensive Patients with Diabetes without Retinopathy by A. Lecleire–Collet, Isabelle Audo, Mounir Aout, Jean‐François Girmens, R. Sofroni, Ali Erginay, Jean‐François Le Gargasson, Saddek Mohand‐Saïd, T. Méas, Pierre-Jean Guillausseau, Éric Vicaut, Michel Pâques, Pascale Massin
Published 2011Artigo -
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Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases by Isabelle Audo, Kinga M. Bujakowska, Thierry Léveillard, Saddek Mohand‐Saïd, Marie‐Elise Lancelot, Aurore Germain, Aline Antonio, Christelle Michiels, Jean‐Paul Saraiva, Mélanie Letexier, José‐Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz
Published 2012Artigo -
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<i>CRB1</i> mutations in inherited retinal dystrophies by Kinga M. Bujakowska, Isabelle Audo, Saddek Mohand‐Saïd, Marie‐Elise Lancelot, Aline Antonio, Aurore Germain, Thierry Léveillard, Mélanie Letexier, Jean‐Paul Saraiva, Christine Lonjou, Wassila Carpentier, José‐Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz
Published 2011Revisão -
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Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to<i>CLN3</i>Pathogenic Variants in a French Retinitis Pigmentosa Cohort by Vasily Smirnov, Marco Nassisi, Cyntia Solis Hernandez, Cécile Méjécase, Saïd El Shamieh, Christel Condroyer, Aline Antonio, Isabelle Meunier, Camille Andrieu, Sabine Defoort‐Dhellemmes, Saddek Mohand‐Saïd, José‐Alain Sahel, Isabelle Audo, Christina Zeitz
Published 2021Artigo -
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Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation by Élise Boulanger-Scemama, Saïd El Shamieh, Vanessa Démontant, Christel Condroyer, Aline Antonio, Christelle Michiels, Fiona Boyard, Jean‐Paul Saraiva, Mélanie Letexier, Eric H. Souied, Saddek Mohand‐Saïd, José‐Alain Sahel, Christina Zeitz, Isabelle Audo
Published 2015Artigo -
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Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome by Leonardo Colombo, Paolo Enrico Maltese, Marco Castori, Saïd El Shamieh, Christina Zeitz, Isabelle Audo, Alessandra Zulian, Carla Marinelli, Sabrina Benedetti, Alisia Costantini, Simone Bressan, Marcella Percio, P Ferri, Andi Abeshi, Matteo Bertelli, Luca Rossetti
Published 2021Artigo -
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Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9) by Rupert W. Strauß, Beatriz Muñoz, Alexander Ho, Anamika Jha, Michel Michaelides, Artur V. Cideciyan, Isabelle Audo, David G. Birch, Amir H Hariri, Muneeswar Gupta Nittala, Srinivas R. Sadda, Sheila K. West, Hendrik P. N. Scholl
Published 2017Artigo -
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Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 24-Month Period (ProgStar Report No. 17) by Rupert W. Strauß, Alexander Ho, Anamika Jha, Kaoru Fujinami, Michel Michaelides, Artur V. Cideciyan, Isabelle Audo, David G. Birch, Srinivas R. Sadda, Michael S. Ip, Sheila K. West, Etienne M. Schönbach, Xiangrong Kong, Hendrik P. N. Scholl
Published 2023Artigo -
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Test–Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial by Maria A. Parker, Dongseok Choi, Laura Erker, Mark E. Pennesi, Paul Yang, Elvira N. Chegarnov, Peter Steinkamp, Catherine L. Schlechter, Claire‐Marie Dhaenens, Saddek Mohand‐Saïd, Isabelle Audo, José‐Alain Sahel, Richard G. Weleber, David J. Wilson
Published 2016Artigo -
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Modeling PRPF31 retinitis pigmentosa using retinal pigment epithelium and organoids combined with gene augmentation rescue by Amélie Rodrigues, Amélie Slembrouck-Brec, Céline Nanteau, Angélique Terray, Yelyzaveta Tymoshenko, Yvrick Zagar, Sacha Reichman, Zhouhuan Xi, José‐Alain Sahel, Stéphane Fouquet, Gaël Orieux, Emeline F. Nandrot, Leah C. Byrne, Isabelle Audo, Jérôme E. Roger, Olivier Goureau
Published 2022Artigo
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