Regulation of Brain Cholesterol: What Role Do Liver X Receptors Play in Neurodegenerative Diseases?

by Kevin Mouzat, Aleksandra Chudinova, Anne Polge, Jovana Kantar, William Camu, Cédric Raoul, Serge Lumbroso
Published 2019-08-01

Spinal Motoneuron TMEM16F Acts at C-boutons to Modulate Motor Resistance and Contributes to ALS Pathogenesis

by Claire Soulard, Céline Salsac, Kevin Mouzat, Cécile Hilaire, Julien Roussel, Alexandre Mezghrani, Serge Lumbroso, Cédric Raoul, Frédérique Scamps
Published 2020-02-01

Clinical and Molecular Landscape of ALS Patients with <i>SOD1</i> Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study

by Emilien Bernard, Antoine Pegat, Juliette Svahn, Françoise Bouhour, Pascal Leblanc, Stéphanie Millecamps, Stéphane Thobois, Claire Guissart, Serge Lumbroso, Kevin Mouzat
Published 2020-09-01

Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French Cohort

by Florence Esselin, Kevin Mouzat, Anne Polge, Raul Juntas-Morales, Nicolas Pageot, Elisa De la Cruz, Emilien Bernard, Emmeline Lagrange, Véronique Danel, Sébastien Alphandery, Laura Labar, Erika Nogué, Marie-Christine Picot, Serge Lumbroso, William Camu
Published 2020-04-01

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

by Claire S Leblond, Caroline Nava, Anne Polge, Julie Gauthier, Guillaume Huguet, Serge Lumbroso, Fabienne Giuliano, Coline Stordeur, Christel Depienne, Kevin Mouzat, Dalila Pinto, Jennifer Howe, Nathalie Lemière, Christelle M Durand, Jessica Guibert, Elodie Ey, Roberto Toro, Hugo Peyre, Alexandre Mathieu, Frédérique Amsellem, Maria Rastam, I Carina Gillberg, Gudrun A Rappold, Richard Holt, Anthony P Monaco, Elena Maestrini, Pilar Galan, Delphine Heron, Aurélia Jacquette, Alexandra Afenjar, Agnès Rastetter, Alexis Brice, Françoise Devillard, Brigitte Assouline, Fanny Laffargue, James Lespinasse, Jean Chiesa, François Rivier, Dominique Bonneau, Beatrice Regnault, Diana Zelenika, Marc Delepine, Mark Lathrop, Damien Sanlaville, Caroline Schluth-Bolard, Patrick Edery, Laurence Perrin, Anne Claude Tabet, Michael J Schmeisser, Tobias M Boeckers, Mary Coleman, Daisuke Sato, Peter Szatmari, Stephen W Scherer, Guy A Rouleau, Catalina Betancur, Marion Leboyer, Christopher Gillberg, Richard Delorme, Thomas Bourgeron
Published 2014-09-01