Resultados da pesquisa - Isabelle Audo

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  1. 1
    Clinical Characteristics and Current Therapies for Inherited Retinal Degenerations

    Clinical Characteristics and Current Therapies for Inherited Retinal Degenerations Por José‐Alain Sahel, Katia Marazova, Isabelle Audo

    Publicado em 2014
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  2. 2
    Poppers-Associated Retinal Toxicity

    Poppers-Associated Retinal Toxicity Por Catherine Vignal‐Clermont, Isabelle Audo, José‐Alain Sahel, Michel Pâques

    Publicado em 2010
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  3. 3
    Extensive Macular Atrophy with Pseudodrusen-like appearance

    Extensive Macular Atrophy with Pseudodrusen-like appearance Por Alessio Antropoli, Lorenzo Bianco, Christel Condroyer, Aline Antonio, Julien Navarro, Dorothée Dagostinoz, Amine Benadji, José‐Alain Sahel, Christina Zeitz, Isabelle Audo

    Publicado em 2024
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  4. 4
    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

    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 Por Catherine Vignal, Jean‐François Girmens, Isabelle Audo, Saddek Mohand Saïd, Marie‐Hélène Errera, Lise Plaine, Denis O’Shaughnessy, Magali Taiel, José‐Alain Sahel

    Publicado em 2021
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  5. 5
    <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

    <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 Por Marion Neuillé, Catherine W. Morgans, Yan Cao, Elise Orhan, Christelle Michiels, José‐Alain Sahel, Isabelle Audo, Robert M. Duvoisin, Kirill A. Martemyanov, Christina Zeitz

    Publicado em 2015
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  6. 6
    Lrit3 Deficient Mouse (nob6): A Novel Model of Complete Congenital Stationary Night Blindness (cCSNB)

    Lrit3 Deficient Mouse (nob6): A Novel Model of Complete Congenital Stationary Night Blindness (cCSNB) Por 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

    Publicado em 2014
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  7. 7
    <i>MERTK</i> mutation update in inherited retinal diseases

    <i>MERTK</i> mutation update in inherited retinal diseases Por 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

    Publicado em 2018
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  8. 8
    Genotypic and Phenotypic Characterization of P23H Line 1 Rat Model

    Genotypic and Phenotypic Characterization of P23H Line 1 Rat Model Por 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

    Publicado em 2015
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  9. 9
    EYS is a major gene for rod-cone dystrophies in France

    EYS is a major gene for rod-cone dystrophies in France Por 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

    Publicado em 2010
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  10. 10
    Evaluation of Retinal Function and Flicker Light-Induced Retinal Vascular Response in Normotensive Patients with Diabetes without Retinopathy

    Evaluation of Retinal Function and Flicker Light-Induced Retinal Vascular Response in Normotensive Patients with Diabetes without Retinopathy Por 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

    Publicado em 2011
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  11. 11
    Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

    Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases Por 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

    Publicado em 2012
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  12. 12
    RNA-based therapies in inherited retinal diseases

    RNA-based therapies in inherited retinal diseases Por Aniz Girach, Isabelle Audo, David G. Birch, Rachel M. Huckfeldt, Byron L. Lam, Bart P. Leroy, Michel Michaelides, Stephen R. Russell, Juliana Maria Ferraz Sallum, Katarína Štingl, Stephen H. Tsang, Paul Yang

    Publicado em 2022
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  13. 13
    <i>CRB1</i> mutations in inherited retinal dystrophies

    <i>CRB1</i> mutations in inherited retinal dystrophies Por 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

    Publicado em 2011
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  14. 14
    Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to<i>CLN3</i>Pathogenic Variants in a French Retinitis Pigmentosa Cohort

    Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to<i>CLN3</i>Pathogenic Variants in a French Retinitis Pigmentosa Cohort Por 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

    Publicado em 2021
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  15. 15
    Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

    Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation Por 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

    Publicado em 2015
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  16. 16
    Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome

    Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome Por 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

    Publicado em 2021
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  17. 17
    Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9)

    Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9) Por 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

    Publicado em 2017
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  18. 18
    Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 24-Month Period (ProgStar Report No. 17)

    Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 24-Month Period (ProgStar Report No. 17) Por 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

    Publicado em 2023
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  19. 19
    Test–Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial

    Test–Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial Por 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

    Publicado em 2016
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  20. 20
    Modeling PRPF31 retinitis pigmentosa using retinal pigment epithelium and organoids combined with gene augmentation rescue

    Modeling PRPF31 retinitis pigmentosa using retinal pigment epithelium and organoids combined with gene augmentation rescue Por 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

    Publicado em 2022
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