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> (2007-2009)
> Nöthen Markus M >
Genome-wide associa...
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
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van Es, Michael A (author)
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Veldink, Jan H (author)
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Saris, Christiaan G J (author)
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show more...
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Blauw, Hylke M (author)
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van Vught, Paul W J (author)
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- Birve, Anna (author)
- Umeå universitet,Neurologi
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Lemmens, Robin (author)
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Schelhaas, Helenius J (author)
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Groen, Ewout J N (author)
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Huisman, Mark H B (author)
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van der Kooi, Anneke J (author)
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de Visser, Marianne (author)
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- Dahlberg, Caroline (author)
- Karolinska Institutet
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Estrada, Karol (author)
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Rivadeneira, Fernando (author)
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Hofman, Albert (author)
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Zwarts, Machiel J (author)
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van Doormaal, Perry T C (author)
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Rujescu, Dan (author)
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Strengman, Eric (author)
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Giegling, Ina (author)
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Muglia, Pierandrea (author)
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Tomik, Barbara (author)
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Slowik, Agnieszka (author)
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Uitterlinden, Andre G (author)
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Hendrich, Corinna (author)
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Waibel, Stefan (author)
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Meyer, Thomas (author)
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Ludolph, Albert C (author)
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Glass, Jonathan D (author)
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Purcell, Shaun (author)
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Cichon, Sven (author)
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Nöthen, Markus M (author)
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Wichmann, H-Erich (author)
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Schreiber, Stefan (author)
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Vermeulen, Sita H H M (author)
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Kiemeney, Lambertus A (author)
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Wokke, John H J (author)
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Cronin, Simon (author)
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McLaughlin, Russell L (author)
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Hardiman, Orla (author)
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Fumoto, Katsumi (author)
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Pasterkamp, R Jeroen (author)
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Meininger, Vincent (author)
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Melki, Judith (author)
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Leigh, P Nigel (author)
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Shaw, Christopher E (author)
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Landers, John E (author)
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Al-Chalabi, Ammar (author)
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Brown, Robert H (author)
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Robberecht, Wim (author)
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- Andersen, Peter M (author)
- Umeå universitet,Neurologi
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Ophoff, Roel A (author)
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van den Berg, Leonard H (author)
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(creator_code:org_t)
- 2009-09-06
- 2009
- English.
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In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:10, s. 1083-1087
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Subject headings
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- We conducted a genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with P < 1.0 x 10(-4) in a second, independent cohort of 2,532 affected individuals and 5,940 controls. Analysis of the genome-wide data revealed genome-wide significance for one SNP, rs12608932, with P = 1.30 x 10(-9). This SNP showed robust replication in the second cohort (P = 1.86 x 10(-6)), and a combined analysis over the two stages yielded P = 2.53 x 10(-14). The rs12608932 SNP is located at 19p13.3 and maps to a haplotype block within the boundaries of UNC13A, which regulates the release of neurotransmitters such as glutamate at neuromuscular synapses. Follow-up of additional SNPs showed genome-wide significance for two further SNPs (rs2814707, with P = 7.45 x 10(-9), and rs3849942, with P = 1.01 x 10(-8)) in the combined analysis of both stages. These SNPs are located at chromosome 9p21.2, in a linkage region for familial ALS with frontotemporal dementia found previously in several large pedigrees.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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van Es, Michael ...
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Veldink, Jan H
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Saris, Christiaa ...
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Blauw, Hylke M
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van Vught, Paul ...
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Birve, Anna
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show more...
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Lemmens, Robin
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Schelhaas, Helen ...
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Groen, Ewout J N
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Huisman, Mark H ...
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van der Kooi, An ...
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de Visser, Maria ...
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Dahlberg, Caroli ...
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Estrada, Karol
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Rivadeneira, Fer ...
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Hofman, Albert
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Zwarts, Machiel ...
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van Doormaal, Pe ...
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Rujescu, Dan
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Strengman, Eric
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Giegling, Ina
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Muglia, Pierandr ...
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Tomik, Barbara
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Slowik, Agnieszk ...
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Uitterlinden, An ...
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Hendrich, Corinn ...
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Waibel, Stefan
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Meyer, Thomas
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Ludolph, Albert ...
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Glass, Jonathan ...
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Purcell, Shaun
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Cichon, Sven
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Nöthen, Markus M
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Wichmann, H-Eric ...
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Schreiber, Stefa ...
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Vermeulen, Sita ...
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Kiemeney, Lamber ...
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Wokke, John H J
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Cronin, Simon
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McLaughlin, Russ ...
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Hardiman, Orla
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Fumoto, Katsumi
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Pasterkamp, R Je ...
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Meininger, Vince ...
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Melki, Judith
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Leigh, P Nigel
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Shaw, Christophe ...
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Landers, John E
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Al-Chalabi, Amma ...
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Brown, Robert H
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Robberecht, Wim
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Andersen, Peter ...
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Ophoff, Roel A
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van den Berg, Le ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
- Articles in the publication
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Nature genetics
- By the university
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Umeå University
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Karolinska Institutet