Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyotrophic lateral sclerosis (ALS) and Paget disease of bone. In the present study, we analyzed the SQSTM1 coding sequence for mutations in an extended cohort of 1,808 patients with frontotemporal lobar d...

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Detalles Bibliográficos
Autores principales: van der Zee, Julie, Van Langenhove, Tim, Kovacs, Gabor G., Dillen, Lubina, Deschamps, William, Engelborghs, Sebastiaan, Matěj, Radoslav, Vandenbulcke, Mathieu, Sieben, Anne, Dermaut, Bart, Smets, Katrien, Van Damme, Philip, Merlin, Céline, Laureys, Annelies, Van Den Broeck, Marleen, Mattheijssens, Maria, Peeters, Karin, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Borroni, Barbara, Padovani, Alessandro, Archetti, Silvana, Pastor, Pau, Razquin, Cristina, Ortega-Cubero, Sara, Hernández, Isabel, Boada, Mercè, Ruiz, Agustín, de Mendonça, Alexandre, Miltenberger-Miltényi, Gabriel, do Couto, Frederico Simões, Sorbi, Sandro, Nacmias, Benedetta, Bagnoli, Silvia, Graff, Caroline, Chiang, Huei-Hsin, Thonberg, Håkan, Perneczky, Robert, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Frisoni, Giovanni B., Bonvicini, Christian, Synofzik, Matthis, Maetzler, Walter, vom Hagen, Jennifer Müller, Schöls, Ludger, Haack, Tobias B., Strom, Tim M., Prokisch, Holger, Dols-Icardo, Oriol, Clarimón, Jordi, Lleó, Alberto, Santana, Isabel, Almeida, Maria Rosário, Santiago, Beatriz, Heneka, Michael T., Jessen, Frank, Ramirez, Alfredo, Sanchez-Valle, Raquel, Llado, Albert, Gelpi, Ellen, Sarafov, Stayko, Tournev, Ivailo, Jordanova, Albena, Parobkova, Eva, Fabrizi, Gian Maria, Testi, Silvia, Salmon, Eric, Ströbel, Thomas, Santens, Patrick, Robberecht, Wim, De Jonghe, Peter, Martin, Jean-Jacques, Cras, Patrick, Vandenberghe, Rik, De Deyn, Peter Paul, Cruts, Marc, Sleegers, Kristel, Van Broeckhoven, Christine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2014
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131163/
https://www.ncbi.nlm.nih.gov/pubmed/24899140
http://dx.doi.org/10.1007/s00401-014-1298-7

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