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Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries : a genome-wide association study

Shatunov, Aleksey (author)
Mok, Kin (author)
Newhouse, Stephen (author)
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Weale, Michael E (author)
Smith, Bradley (author)
Vance, Caroline (author)
Johnson, Lauren (author)
Veldink, Jan H (author)
van Es, Michael A (author)
van den Berg, Leonard H (author)
Robberecht, Wim (author)
Van Damme, Philip (author)
Hardiman, Orla (author)
Farmer, Anne E (author)
Lewis, Cathryn M (author)
Butler, Amy W (author)
Abel, Olubunmi (author)
Andersen, Peter M (author)
Umeå universitet,Neurologi
Fogh, Isabella (author)
Silani, Vincenzo (author)
Chiò, Adriano (author)
Traynor, Bryan J (author)
Melki, Judith (author)
Meininger, Vincent (author)
Landers, John E (author)
McGuffin, Peter (author)
Glass, Jonathan D (author)
Pall, Hardev (author)
Leigh, P Nigel (author)
Hardy, John (author)
Brown, Robert H (author)
Powell, John F (author)
Orrell, Richard W (author)
Morrison, Karen E (author)
Shaw, Pamela J (author)
Shaw, Christopher E (author)
Al-Chalabi, Ammar (author)
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 (creator_code:org_t)
2010
2010
English.
In: Lancet Neurology. - 1474-4422 .- 1474-4465. ; 9:10, s. 986-994
  • Journal article (peer-reviewed)
Abstract Subject headings
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  • We have found strong evidence of a genetic association of two single nucleotide polymorphisms on chromosome 9 with sporadic ALS, in line with findings from previous independent GWAS of ALS and linkage studies of ALS-frontotemporal dementia. Our findings together with these earlier findings suggest that genetic variation at this locus on chromosome 9 causes sporadic ALS and familial ALS-frontotemporal dementia. Resequencing studies and then functional analysis should be done to identify the defective gene.

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