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Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy by Sylvie Gerber, Lola Lessard, Cécile Rouzier, Samira Ait‐el‐Mkadem Saadi, Roxana Ameli, Stéphane Thobois, Lucie Abouaf, Françoise Bouhour, Josseline Kaplan, Audrey Putoux, Antoine Pegat, Jean‐Michel Rozet
Published 2023-07-01Get full text
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Demyelinating neuropathy as the initial presentation of familial E200K Creutzfeldt–Jakob disease in two patients by Cécile Delorme, Antoine Pégat, Julian Theuriet, Jean‐Philippe Brandel, Emmanuel Roze, Karine Viala, Julie Zyss, Stéphane Thobois, Anthony Fourier, Emilien Bernard, Juliette Svahn, Chloé Laurencin, Paul Jaulent, Christophe Vandendries, Isabelle Quadrio, Virginie Desestret, David Meyronet, Thierry Maisonobe, Stéphane Haïk, Danielle Seilhean
Published 2025-03-01Get full text
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Classification of GBA1 variants and their impact on Parkinson’s disease: an in silico score analysis by Aymeric Lanore, Christelle Tesson, Aymeric Basset, François-Xavier Lejeune, Guillaume Cogan, Graziella Mangone, Sara Sambin, Nathalie Bertille, Mathieu Anheim, Isabelle Arnulf, Solène Ansquer, Jean-Philippe Brandel, Christine Brefel-Courbon, Luc Defebvre, Sophie Drapier, Alexandre Eusebsio, Margherita Fabbri, Caroline Giordana, Elodie Hainque, Stephane Lehericy, Ana Marques, Caroline Moreau, Elena Moro, Fabienne Ory, Anne-Sophie Rolland, Stéphane Thobois, Marie Vidailhet, David Devos, Louise-Laure Mariani, Suzanne Lesage, Alexis Brice, Jean-Christophe Corvol, for the Predistim study group, the Iceberg study group, the NSPark study group
Published 2025-08-01Get full text
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