نتائج البحث - Christophe Orssaud
- يعرض 1 - 7 نتائج من 7
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International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy حسب Valério Carelli, Michele Carbonelli, I.F.M. de Coo, Aki Kawasaki, Thomas Klopstock, Wolf A. Lagrèze, Chiara La Morgia, Nancy J. Newman, Christophe Orssaud, Jan Willem R. Pott, Alfredo A. Sadun, J. van Everdingen, Catherine Vignal, Marcela Votruba, Patrick Yu‐Wai‐Man, Piero Barboni
منشور في 2017Artigo -
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Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy حسب Alessandro Achilli, Luisa Iommarini, Anna Olivieri, Maria Pala, Baharak Hooshiar Kashani, Pascal Reynier, Chiara La Morgia, Maria Lucia Valentino, Rocco Liguori, Fabio Pizza, Piero Barboni, Federico Sadun, Anna Maria De Negri, Massimo Zeviani, Hélène Dollfus, Antoine Moulignier, Ghislaine Ducos, Christophe Orssaud, Dominique Bonneau, Vincent Procaccio, Beate Leo‐Kottler, Sascha Fauser, Bernd Wissinger, Patrizia Amati‐Bonneau, Antonio Torroni, Valério Carelli
منشور في 2012Artigo -
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Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations حسب Isabelle Perrault, Sophie Saunier, Sylvain Hanein, Emilie Filhol, Albane A. Bizet, Felicity Collins, Mustafa A. Salih, S. Gerber, Nathalie Delphin, Karine Bigot, Christophe Orssaud, Eduardo Silva, Véronique Baudouin, Machteld M. Oud, Nora Shannon, Martine Le Merrer, Olivier Roche, Christine Piétrement, Jamal Goumid, Clarisse Baumann, Christine Bôle‐Feysot, Patrick Nitschké, Mohammed Zahrate, Philip L. Beales, Heleen H. Arts, Arnold Münnich, Josseline Kaplan, Corinne Antignac, Valérie Cormier‐Daire, Jean‐Michel Rozet
منشور في 2012Artigo -
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Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome حسب S. Gerber, Kamil J. Alzayady, Lydie Bürglen, Dominique Brémond‐Gignac, Valentina Marchesin, Olivier Roche, Marlène Rio, Benoît Funalot, Raphaël Calmon, Alexandra Dürr, Vera Lúcia Gil‐da‐Silva‐Lopes, Maria Fernanda Ribeiro Bittar, Christophe Orssaud, Bénédicte Héron, Edward Ayoub, Patrick Berquin, Nadia Bahi‐Buisson, Christine Bole, Cécile Masson, Arnold Münnich, Matias Simons, Marion Delous, Hélène Dollfus, Nathalie Boddaert, Stanislas Lyonnet, Josseline Kaplan, Patrick Calvas, David I. Yule, Jean‐Michel Rozet, Lucas Fares‐Taie
منشور في 2016Artigo -
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Sodium valproate, a potential repurposed treatment for the neurodegeneration in Wolfram syndrome (TREATWOLFRAM): trial protocol for a pivotal multicentre, randomised double-blind c... حسب 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
منشور في 2025Artigo -
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The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands حسب 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
منشور في 2022Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Gene
Genetics
Medicine
Leber's hereditary optic neuropathy
Mutation
Neuroscience
Optic nerve
Optic neuropathy
Pathology
Disease
Internal medicine
Ophthalmology
Political science
Sanger sequencing
Alternative medicine
Anatomy
Aniridia
Ataxia
Cerebellar ataxia
Ciliopathy
Clinical Global Impression
Clinical endpoint
Clinical trial
Compound heterozygosity
Diabetes mellitus
Dorsum
Endocrinology
Environmental health
Eye movement