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Regulation of Brain Cholesterol: What Role Do Liver X Receptors Play in Neurodegenerative Diseases?Mouzat, Kevin ; Chudinova, Aleksandra ; Polge, Anne ; Kantar, Jovana ; Camu, William ; Raoul, Cédric ; Lumbroso, SergeInternational journal of molecular sciences, 2019-08, Vol.20 (16), p.3858 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center StudyBernard, Emilien ; Pegat, Antoine ; Svahn, Juliette ; Bouhour, Françoise ; Leblanc, Pascal ; Millecamps, Stéphanie ; Thobois, Stéphane ; Guissart, Claire ; Lumbroso, Serge ; Mouzat, KevinInternational journal of molecular sciences, 2020-09, Vol.21 (18), p.6807 [Periódico revisado por pares]Switzerland: MDPITexto completo disponível |
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Genetic variations related to inflammation in suicidal ideation and behavior: A systematic reviewTamimou, Rabah ; Lumbroso, Serge ; Mouzat, Kevin ; Lopez-Castroman, JorgeFrontiers in psychiatry, 2022-10, Vol.13, p.1003034-1003034 [Periódico revisado por pares]FrontiersTexto completo disponível |
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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French CasesCodjia, P ; Ayrignac, X ; Mochel, F ; Mouzat, K ; Carra-Dalliere, C ; Castelnovo, G ; Ellie, E ; Etcharry-Bouyx, F ; Verny, C ; Belliard, S ; Hannequin, D ; Marelli, C ; Nadjar, Y ; Le Ber, I ; Dorboz, I ; Samaan, S ; Boespflug-Tanguy, O ; Lumbroso, S ; Labauge, PAmerican journal of neuroradiology : AJNR, 2018-09, Vol.39 (9), p.1657-1661 [Periódico revisado por pares]United States: American Society of NeuroradiologyTexto completo disponível |
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Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French CohortEsselin, Florence ; Mouzat, Kevin ; Polge, Anne ; Juntas-Morales, Raul ; Pageot, Nicolas ; De la Cruz, Elisa ; Bernard, Emilien ; Lagrange, Emmeline ; Danel, Véronique ; Alphandery, Sébastien ; Labar, Laura ; Nogué, Erika ; Picot, Marie-Christine ; Lumbroso, Serge ; Camu, WilliamFrontiers in neuroscience, 2020-04, Vol.14, p.316-316 [Periódico revisado por pares]Switzerland: Frontiers Research FoundationTexto completo disponível |
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Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decayGuissart, Claire ; Mouzat, Kevin ; Kantar, Jovana ; Louveau, Baptiste ; Vilquin, Paul ; Polge, Anne ; Raoul, Cédric ; Lumbroso, SergeScientific reports, 2020-11, Vol.10 (1), p.20738-20738, Article 20738 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Liver X receptors: from cholesterol regulation to neuroprotection—a new barrier against neurodegeneration in amyotrophic lateral sclerosis?Mouzat, Kevin ; Raoul, Cédric ; Polge, Anne ; Kantar, Jovana ; Camu, William ; Lumbroso, SergeCellular and Molecular Life Sciences, 2016-10, Vol.73 (20), p.3801-3808 [Periódico revisado por pares]Cham: Springer International PublishingTexto completo disponível |
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Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALSGuissart, Claire ; De la Cruz, Elisa ; Flabeau, Olivier ; Grapperon, Aude-Marie ; Corazza, Giovanni ; Junilhon, Lucie ; Delmas, Jean-Charles ; Millecamps, Stéphanie ; Polge, Anne ; Amador, Maria del Mar ; Salachas, Francois ; Rochat, Julie ; Goizet, Cyril ; Juntas Morales, Raul ; Lumbroso, Serge ; Philibert, Pascal ; Cheillan, David ; Mouzat, KevinJournal of neurology, neurosurgery and psychiatry, 2023-11, Vol.95 (3), p.288-290 [Periódico revisado por pares]England: BMJ Publishing Group LtdTexto completo disponível |
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A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratoriesAkimoto, Chizuru ; Volk, Alexander E ; van Blitterswijk, Marka ; Van den Broeck, Marleen ; Leblond, Claire S ; Lumbroso, Serge ; Camu, William ; Neitzel, Birgit ; Onodera, Osamu ; van Rheenen, Wouter ; Pinto, Susana ; Weber, Markus ; Smith, Bradley ; Proven, Melanie ; Talbot, Kevin ; Keagle, Pamela ; Chesi, Alessandra ; Ratti, Antonia ; van der Zee, Julie ; Alstermark, Helena ; Birve, Anna ; Calini, Daniela ; Nordin, Angelica ; Tradowsky, Daniela C ; Just, Walter ; Daoud, Hussein ; Angerbauer, Sabrina ; DeJesus-Hernandez, Mariely ; Konno, Takuya ; Lloyd-Jani, Anjali ; de Carvalho, Mamede ; Mouzat, Kevin ; Landers, John E ; Veldink, Jan H ; Silani, Vincenzo ; Gitler, Aaron D ; Shaw, Christopher E ; Rouleau, Guy A ; van den Berg, Leonard H ; Van Broeckhoven, Christine ; Rademakers, Rosa ; Andersen, Peter M ; Kubisch, ChristianJournal of medical genetics, 2014-06, Vol.51 (6), p.419-424 [Periódico revisado por pares]England: BMJ Publishing Group LTDTexto completo disponível |
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Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunitiesMuratet, François ; Teyssou, Elisa ; Chiot, Aude ; Boillée, Séverine ; Lobsiger, Christian S ; Bohl, Delphine ; Gyorgy, Beata ; Guegan, Justine ; Marie, Yannick ; Amador, Maria del Mar ; Salachas, Francois ; Meininger, Vincent ; Bernard, Emilien ; Antoine, Jean-Christophe ; Camdessanché, Jean-Philippe ; Camu, William ; Cazeneuve, Cécile ; Fauret-Amsellem, Anne-Laure ; Leguern, Eric ; Mouzat, Kevin ; Guissart, Claire ; Lumbroso, Serge ; Corcia, Philippe ; Vourc'h, Patrick ; Grapperon, Aude-Marie ; Attarian, Shahram ; Verschueren, Annie ; Seilhean, Danielle ; Millecamps, StéphanieJournal of neurology, neurosurgery and psychiatry, 2021-09, Vol.92 (9), p.942-949 [Periódico revisado por pares]England: BMJ Publishing GroupTexto completo disponível |