Resultados da pesquisa - Isabelle Meunier

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  1. 1
    Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa

    Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa Por Michalitsa Diakatou, Gae͏̈l Manes, Béatrice Bocquet, Isabelle Meunier, Vasiliki Kalatzis

    Publicado em 2019
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  2. 2
    Type I IFN Triggers RIG-I/TLR3/NLRP3-dependent Inflammasome Activation in Influenza A Virus Infected Cells

    Type I IFN Triggers RIG-I/TLR3/NLRP3-dependent Inflammasome Activation in Influenza A Virus Infected Cells Por Julien Pothlichet, Isabelle Meunier, Beckley K. Davis, Jenny P.-Y. Ting, Emil Skamene, Veronika von Messling, Silvia M. Vidal

    Publicado em 2013
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  3. 3
    Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles

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

    Publicado em 2019
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  4. 4
    Assessment of the Efficacy of Commercially Available and Candidate Vaccines against a Pandemic H1N1 2009 Virus

    Assessment of the Efficacy of Commercially Available and Candidate Vaccines against a Pandemic H1N1 2009 Virus Por Gary Wong, Isabelle Meunier, Ami Patel, Stéphane Pillet, Jason Gren, Shane Stebner, Anders Leung, James Neufeld, Darwyn Kobasa, Veronika von Messling

    Publicado em 2010
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  5. 5
    RIPK3 interacts with MAVS to regulate type I IFN-mediated immunity to Influenza A virus infection

    RIPK3 interacts with MAVS to regulate type I IFN-mediated immunity to Influenza A virus infection Por Jeffrey Downey, Erwan Pernet, François Coulombe, Benoît Allard, Isabelle Meunier, Joanna Jaworska, Salman T. Qureshi, Donald C. Vinh, James G. Martin, Philippe Joubert, Maziar Divangahi

    Publicado em 2017
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  6. 6
    Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta

    Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta Por Bozena Polok, Pascal Escher, Aude Ambresin, Éliane Chouery, Sylvain Bolay, Isabelle Meunier, Francis Nan, Christian Hamel, Francis L. Munier, Bernard Thilo, André Mégarbané, Daniel F. Schorderet

    Publicado em 2009
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  7. 7
    Enrichment of LOVD-USHbases with 152<i>USH2A</i>Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots

    Enrichment of LOVD-USHbases with 152<i>USH2A</i>Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots Por David Baux, Catherine Blanchet, Christian Hamel, Isabelle Meunier, Lise Larrieu, Valérie Faugère, Christel Vaché, Pierangela Castorina, Bernard Puech, Dominique Bonneau, Sue Malcolm, Mireille Claustres, Anne‐Françoise Roux

    Publicado em 2014
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  8. 8
    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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  9. 9
    Interim estimates of vaccine effectiveness against influenza A(H1N1)pdm09 and A(H3N2) during a delayed influenza season, Canada, 2024/25

    Interim estimates of vaccine effectiveness against influenza A(H1N1)pdm09 and A(H3N2) during a delayed influenza season, Canada, 2024/25 Por Lea Separovic, Yuping Zhan, Samantha E Kaweski, Suzana Sabaiduc, Sara Carazo, Romy Olsha, Richard Mather, James A. Dickinson, Maan Hasso, Isabelle Meunier, Agatha N. Jassem, Nathan Zelyas, Ruimin Gao, Nathalie Bastien, Danuta M. Skowronski

    Publicado em 2025
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  10. 10
    Cost‐effective molecular inversion probe‐based <i>ABCA4</i> sequencing reveals deep‐intronic variants in Stargardt disease

    Cost‐effective molecular inversion probe‐based <i>ABCA4</i> sequencing reveals deep‐intronic variants in Stargardt disease Por Mubeen Khan, Stéphanie S. Cornelis, Muhammad Imran Khan, Duaa Elmelik, Eline Manders, Sem Bakker, Ronny Derks, Kornelia Neveling, Maartje van de Vorst, Christian Gilissen, Isabelle Meunier, Sabine Defoort, Bernard Puech, Aurore Devos, H.L. Schulz, Heidi Stöhr, Felix Graßmann, Bernhard H. F. Weber, Claire‐Marie Dhaenens, Frans P.M. Cremers

    Publicado em 2019
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  11. 11
    Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1 , a Gene Implicated in Ubiquitination

    Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1 , a Gene Implicated in Ubiquitination Por Frauke Coppieters, Giulia Ascari, Katharina Dannhausen, Konstantinos Nikopoulos, Frank Peelman, Marcus Karlstetter, Mingchu Xu, Cécile Brachet, Isabelle Meunier, Miltiadis K. Tsilimbaris, Chrysanthi Tsika, Styliani Blazaki, Sarah Vergult, Pietro Farinelli, Thalia Van Laethem, Miriam Bauwens, Marieke De Bruyne, Rui Chen, Thomas Langmann, Ruifang Sui, Françoise Meire, Carlo Rivolta, Christian P. Hamel, Bart Leroy, Elfride De Baere

    Publicado em 2016
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  12. 12
    Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission

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

    Publicado em 2017
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  13. 13
    Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

    Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy Por Majida Charif, Arnaud Chevrollier, Naïg Guéguen, Céline Bris, David Goudenège, Valérie Desquiret‐Dumas, Stéphanie Leruez, Estelle Colin, Audrey Meunier, Catherine Vignal, Vasily Smirnov, Sabine Defoort‐Dhellemmes, Isabelle Drumare Bouvet, Cyril Goizet, Marcela Votruba, Neringa Jurkutė, Patrick Yu‐Wai‐Man, Fabrizio Tagliavini, Leonardo Caporali, Chiara La Morgia, Valério Carelli, Vincent Procaccio, Xavier Zanlonghi, Isabelle Meunier, Pascal Reynier, Dominique Bonneau, Patrizia Amati‐Bonneau, Guy Lenaers

    Publicado em 2020
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  14. 14
    Mutations in IMPG1 Cause Vitelliform Macular Dystrophies

    Mutations in IMPG1 Cause Vitelliform Macular Dystrophies Por Gaël Manès, Isabelle Meunier, Almudena Ávila‐Fernández, Sandro Banfi, Guylène Le Meur, Xavier Zanlonghi, Marta Cortón, Francesca Simonelli, Philippe Brabet, Gilles Labesse, Isabelle Audo, Saddek Mohand‐Saïd, Christina Zeitz, José‐Alain Sahel, Michel Weber, Hélène Dollfus, Claire‐Marie Dhaenens, Delphine Allorge, Elfride De Baere, Robert K. Koenekoop, Susanne Kohl, Frans P.M. Cremers, Joe G. Hollyfield, Audrey Sénéćhal, Maxime Hebrard, Béatrice Bocquet, Carmen Ayuso, Christian P. Hamel

    Publicado em 2013
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  15. 15
    Sodium valproate, a potential repurposed treatment for the neurodegeneration in Wolfram syndrome (TREATWOLFRAM): trial protocol for a pivotal multicentre, randomised double-blind controlled trial

    Sodium valproate, a potential repurposed treatment for the neurodegeneration in Wolfram syndrome (TREATWOLFRAM): trial protocol for a pivotal multicentre, randomised double-blind c... Por Renuka Dias, Kristian Brock, Kun Hu, Rajat Gupta, Una Martin, Andrew C. Peet, Martin Wilson, Patrick Yu‐Wai‐Man, Benjamin Wright, Susan P. Mollan, Archana Kulkarni, Isabelle Meunier, Lucinda Billingham, Zsuzsanna Nagy, Heather Rose, Sulev Kõks, Malgorzata Zatyka, Dewi Astuti, Thomas R. Lynch, Karen Morrison, Darren Barton, Sabrina Cronier, Rebecca Malpass, Ruth Evans, Avleen Malhi, Pooja Takhar, A. B. Lamb, Gema Esteban-Bueno, Wojciech Młynarski, Christophe Orssaud, Agathe Roubertie, Victoria Homer, Timothy Barrett

    Publicado em 2025
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  16. 16
    Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

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

    Publicado em 2015
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  17. 17
    Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

    Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides Por Riccardo Sangermano, Alejandro Garanto, Mubeen Khan, Esmee H. Runhart, Miriam Bauwens, Nathalie M. Bax, L. Ingeborgh van den Born, Muhammad Imran Khan, Stéphanie S. Cornelis, Joanne Verheij, Jan-Willem R. Pott, Alberta A. H. J. Thiadens, Caroline C. W. Klaver, Bernard Puech, Isabelle Meunier, Sarah Naessens, Gavin Arno, Ana Fakin, Keren Carss, F. Lucy Raymond, Andrew R. Webster, Claire‐Marie Dhaenens, Heidi Stöhr, Felix Graßmann, Bernhard H. F. Weber, Carel B. Hoyng, Elfride De Baere, Sílvia Albert, Rob W.J. Collin, Frans P.M. Cremers

    Publicado em 2019
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  18. 18
    Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness

    Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness Por Ajoy Vincent, Isabelle Audo, Erika Tavares, Jason T. Maynes, Anupreet Tumber, Tom Wright, Shuning Li, Christelle Michiels, Christel Condroyer, H. Robson MacDonald, R Verdet, José‐Alain Sahel, Christian Hamel, Christina Zeitz, Elise Héon, Eyal Banin, Béatrice Bocquet, Elfride De Baere, Ingele Casteels, Sabine Defoort‐Dhellemmes, Isabelle Drumare, Christoph Friedburg, Irène Gottlob, Samuel G. Jacobson, Ulrich Kellner, Robert K. Koenekoop, Susanne Kohl, Bart P. Leroy, Birgit Lorenz, Rebecca J. McLean, Françoise Meire, Isabelle Meunier, Francis L. Munier, Thomy de Ravel, Charlotte Reiff, Saddek Mohand‐Saïd, Dror Sharon, Daniel F. Schorderet, Sharon Schwartz, Xavier Zanlonghi

    Publicado em 2016
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  19. 19
    The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands

    The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands Por Aude Rocatcher, Valérie Desquiret‐Dumas, Majida Charif, Marc Ferré, Philippe Gohier, Delphine Mirebeau‐Prunier, Christophe Verny, Dan Miléa, Guy Lenaers, Catherine Vignal, Cédric Lamirel, Rabih Hage, Hélène Dollfus, Isabelle Meunier, Xavier Zanlonghi, Valérie Touitou, Pierre Lebranchu, Sylvie Odent, Caroline Froment Tilikete, L. Jeanjean, Sabine Defoort‐Dhellemmes, Isabelle Drumare-Bouvet, Vasily Smirnov, Catherine Vincent-Delorme, Damien Biotti, Fanny Varenne, Patrick Calvas, Nicolas Chassaing, Mikaël Cohen, Christophe Orssaud, Fanny Mochel, Agathe Roubertie, Annick Toutain, Frédéric Pollet-Villard, Marie Noelle Bonnet Dupeyron, Céline Boulicot, Béatrice Cochener, Alice Goldenberg, Marie Line Jacquemont, Christine Francannet, Dominique Bonneau, Pascal Reynier, Patrizia Amati‐Bonneau

    Publicado em 2022
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  20. 20
    Elevated Plasma Complement Factors in <i>CRB1</i>-Associated Inherited Retinal Dystrophies

    Elevated Plasma Complement Factors in <i>CRB1</i>-Associated Inherited Retinal Dystrophies Por Lude Moekotte, Joke de Boer, Sanne Hiddingh, Aafke de Ligt, Xuan‐Thanh‐An Nguyen, Carel B. Hoyng, Chris F. Inglehearn, Martin McKibbin, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Terri L. McLaren, Alaa AlTalbishi, Daan M. Panneman, Erica G. M. Boonen, Sandro Banfi, Béatrice Bocquet, Isabelle Meunier, Elfride De Baere, Robert K. Koenekoop, Monika Ołdak, Carlo Rivolta, Lisa Roberts, Raj Ramesar, R. Strupaite-Sileikiene, Susanne Kohl, G. Jane Farrar, Marion van Vugt, Jessica van Setten, Susanne Roosing, L. Ingeborgh van den Born, Camiel J.F. Boon, Maria M. van Genderen, Jonas J. W. Kuiper

    Publicado em 2025
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