A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

We assessed the geographical distribution of C9orf72 G(4)C(2) expansions in a pan-European frontotemporal lobar degeneration (FTLD) cohort (n = 1,205), ascertained by the European Early-Onset Dementia (EOD) consortium. Next, we performed a meta-analysis of our data and that of other European studies...

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Detalles Bibliográficos
Autores principales: van der Zee, Julie, Gijselinck, Ilse, Dillen, Lubina, Van Langenhove, Tim, Theuns, Jessie, Engelborghs, Sebastiaan, Philtjens, Stéphanie, Vandenbulcke, Mathieu, Sleegers, Kristel, Sieben, Anne, Bäumer, Veerle, Maes, Githa, Corsmit, Ellen, Borroni, Barbara, Padovani, Alessandro, Archetti, Silvana, Perneczky, Robert, Diehl-Schmid, Janine, de Mendonça, Alexandre, Miltenberger-Miltenyi, Gabriel, Pereira, Sónia, Pimentel, José, Nacmias, Benedetta, Bagnoli, Silvia, Sorbi, Sandro, Graff, Caroline, Chiang, Huei-Hsin, Westerlund, Marie, Sanchez-Valle, Raquel, Llado, Albert, Gelpi, Ellen, Santana, Isabel, Almeida, Maria Rosário, Santiago, Beatriz, Frisoni, Giovanni, Zanetti, Orazio, Bonvicini, Cristian, Synofzik, Matthis, Maetzler, Walter, vom Hagen, Jennifer Müller, Schöls, Ludger, Heneka, Michael T, Jessen, Frank, Matej, Radoslav, Parobkova, Eva, Kovacs, Gabor G, Ströbel, Thomas, Sarafov, Stayko, Tournev, Ivailo, Jordanova, Albena, Danek, Adrian, Arzberger, Thomas, Fabrizi, Gian Maria, Testi, Silvia, Salmon, Eric, Santens, Patrick, Martin, Jean-Jacques, Cras, Patrick, Vandenberghe, Rik, De Deyn, Peter Paul, Cruts, Marc, Van Broeckhoven, Christine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2013
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3638346/
https://www.ncbi.nlm.nih.gov/pubmed/23111906
http://dx.doi.org/10.1002/humu.22244

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