no code implementations • 25 Jan 2022 • Vincent Huin, Giulia Coarelli, Clément Guemy, Susana Boluda, Rabab Debs, Fanny Mochel, Tanya Stojkovic, David Grabli, Thierry Maisonobe, Bertrand Gaymard, Timothée Lenglet, Céline Tard, Jean-Baptiste Davion, Bernard Sablonnière, Marie-Lorraine Monin, Claire Ewenczyk, Karine Viala, Perrine Charles, Isabelle Le Ber, Mary Reilly, Henry Houlden, Andrea Cortese, Danielle Seilhean, Alexis Brice, Alexandra Durr
Motor neuron involvement was found for 24 of 38 patients (63. 1%).
no code implementations • 21 Nov 2020 • Jérôme Delplanque, David Devos, Vincent Huin, Alexandre Genet, Olivier Sand, Caroline Moreau, Cyril Goizet, Perrine Charles, Mathieu Anheim, Marie Lorraine Monin, Luc Buée, Alain Destée, Guillaume Grolez, Christine Delmaire, Kathy Dujardin, Delphine Dellacherie, Alexis Brice, Giovanni Stevanin, Isabelle Strubi-Vuillaume, Alexandra Durr, Bernard Sablonnière
This ataxia was firstly characterized in a large French family with slowly progressive cerebellar ataxia, accompanied by severe cognitive impairment and mental retardation in two young children.
no code implementations • 20 Nov 2020 • Vincent Huin, Vincent Deramecourt, Dominique Caparros-Lefebvre, Claude-Alain Maurage, Charles Duyckaerts, Eniko Kovari, Florence Pasquier, Valérie Buée-Scherrer, Julien Labreuche, Hélène Behal, Luc Buée, Claire-Marie Dhaenens, Bernard Sablonnière
However, few studies examine the sequences beyond the constitutive promoter. Objectives: Because activating different microtubule associated protein tau gene control regions via methylation might regulate the differential tau expression constituting the specific signatures of individual tauopathies, we compared methylation of a candidate promoter, intron 0. Methods: We assessed DNA methylation in the brains of patients with different tauopathies (35 Alzheimer's disease, 10 corticobasal degeneration, and 18 PSP) and 19 controls by intron 0 pyrosequencing.
no code implementations • 20 Nov 2020 • Sabiha Eddarkaoui, Mégane Homa, Anne Loyens, Emilie Faivre, Vincent Deramecourt, Claude-Alain Maurage, Luc Buée, Vincent Huin, Bernard Sablonnière
Immunofluorescence labeling showed TMEM240 to be expressed in various areas of the brain, with the highest levels in the hippocampus, isocortex, and cerebellum.