Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
| Title: | Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study |
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| Authors: | Sabatelli, Mario |
| Contributors: | Majounie, E; Renton, Ae; Mok, K; Dopper, Egp; Waite, A; Rollinson, S; Chiò, A; Restagno, G; Nicolaou, N; Simon Sanchez, J; Van Swieten, Jc; Abramzon, Y; Johnson, Jo; Sendtner, M; Pamphlett, R; Orrell, Rw; Mead, S; Sidle, Kc; Houlden, H; Rohrer, Jd; Morrison, Ke; Pall, H; Talbot, K; Ansorge, O; Hernandez, Dg; Arepalli, S; Sabatelli, Mario; Mora, G; Corbo, Massimo; Giannini, F; Calvo, A; Englund, E; Borghero, G; Floris, Gl; Remes, Am; Laaksovirta, H; Mccluskey, L; Trojanowski, Jq; Van Deerlin, Vm; Schellenberg, Gd; Nalls, Ma; Drory, Ve; Lu, C; Yeh, T; Ishiura, H; Takahashi, Y; Tsuji, S; Le Ber, I; Brice, A; Drepper, C; Williams, N; Kirby, J; Shaw, P; Hardy, J; Tienari, Pj; Heutink, P; Morris, Hr; Pickering Brown, S; Traynor, Bj |
| Publication Year: | 2012 |
| Collection: | Università Cattolica del Sacro Cuore: PubliCatt |
| Subject Terms: | Adolescent; Adult; Age of Onset; Aged; 80 and over; Amyotrophic Lateral Sclerosis; Child; Preschool; Chromosomes; Human; Pair 9; Cohort Studies; Cross-Sectional Studies; DNA Repeat Expansion; Female; Frontotemporal Dementia; Genetic Loci; Genotype; Humans; Male; Middle Aged; Open Reading Frames; Young Adult; Settore MED/26 - NEUROLOGIA |
| Description: | We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). |
| Document Type: | article in journal/newspaper |
| Language: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/22406228; info:eu-repo/semantics/altIdentifier/wos/WOS:000301999600008; volume:11; issue:4; firstpage:323; lastpage:330; numberofpages:8; issueyear:2012; journal:LANCET NEUROLOGY; https://hdl.handle.net/10807/4511 |
| DOI: | 10.1016/S1474-4422(12)70043-1 |
| Availability: | https://hdl.handle.net/10807/4511; https://doi.org/10.1016/S1474-4422(12)70043-1 |
| Accession Number: | edsbas.B748BFA9 |
| Database: | BASE |