Article
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.
Human mutation - 1 Jan 2013
García-Redondo Alberto, Dols-Icardo Oriol, Rojas-García Ricard, Esteban-Pérez Jesús, Cordero-Vázquez Pilar, Muñoz-Blanco José Luis, Catalina Irene, González-Muñoz Miguel, Varona Luis, Sarasola Esther, Povedano Monica, Sevilla Teresa, Guerrero Antonio, Pardo Julio, López de Munain Adolfo, Márquez-Infante Celedonio, de Rivera Francisco Javier Rodríguez, Pastor Pau, Jericó Ivonne, de Arcaya Amaya Álvarez, Mora Jesús S, Clarimón Jordi, Gonzalo-Martínez Juan Francisco, Juárez-Rufián Alexandra, Atencia Gabriela, Jiménez-Bautista Rosario, Morán Yolanda, Mascías Javier, Hernández-Barral María, Kapetanovic Solange, García-Barcina María, Alcalá Carmen, Vela Alvaro, Ramírez-Ramos Concepción, Galán Lucía, Pérez-Tur Jordi, Quintáns Beatriz, Sobrido M Jesús, Fernández-Torrón Roberto, Poza Juan José, Gorostidi Ana, Paradas Carmen, Villoslada Pablo, Larrodé Pilar, Capablo José Luis, Pascual-Calvet Jordi, Goñi Miguel, Morgado Yolanda, Guitart Miriam, Moreno-Laguna Sira, Rueda Almudena, Martín-Estefanía Carlos, Cemillán Carlos, Blesa Rafael, Lleó Alberto
Abstract excerpt
A hexanucleotide repeat expansion in chromosome 9 open reading frame 72 (C9orf72) can cause amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD). We assessed its frequency in 781 sporadic ALS (sALS) and 155 familial ALS (fALS) cases, and in 248 Spanish controls. We tested the presence of the reported founder haplotype among mutation carriers and in 171 Ceph Europeans from Utah (CEU), 170...
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