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1.	Al-Chalabi, Ammar, et al. (author) July 2017 ENCALS statement on edaravone 2017 In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. - : TAYLOR & FRANCIS LTD. - 2167-8421 .- 2167-9223. ; 18:7-8, s. 471-474 Journal article (peer-reviewed)abstract n/a
2.	Sproviero, William, et al. (author) ATXN2 trinucleotide repeat length correlates with risk of ALS 2017 In: Neurobiology of Aging. - : Elsevier BV. - 0197-4580 .- 1558-1497. ; 51, s. 178.e1-178.e9 Journal article (peer-reviewed)abstract We investigated a CAG trinucleotide repeat expansion in the ATXN2 gene in amyotrophic lateral sclerosis (ALS). Two new case-control studies, a British dataset of 1474 ALS cases and 567 controls, and a Dutch dataset of 1328 ALS cases and 691 controls were analyzed. In addition, to increase power, we systematically searched PubMed for case-control studies published after 1 August 2010 that investigated the association between ATXN2 intermediate repeats and ALS. We conducted a meta-analysis of the new and existing studies for the relative risks of ATXN2 intermediate repeat alleles of between 24 and 34 CAG trinucleotide repeats and ALS. There was an overall increased risk of ALS for those carrying intermediate sized trinucleotide repeat alleles (odds ratio 3.06 [95% confidence interval 2.37-3.94]; p = 6 × 10(-18)), with an exponential relationship between repeat length and ALS risk for alleles of 29-32 repeats (R(2) = 0.91, p = 0.0002). No relationship was seen for repeat length and age of onset or survival. In contrast to trinucleotide repeat diseases, intermediate ATXN2 trinucleotide repeat expansion in ALS does not predict age of onset but does predict disease risk.

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Type of publication: journal article (2)

Type of content: peer-reviewed (2)

Author/Editor: Andersen, Peter M. (2); Al-Chalabi, Ammar (2); van Damme, Philip (2); van den Berg, Leonar ... (2); Salachas, Francois (2); Powell, John F. (1); show more...; Shatunov, Aleksey (1); Jones, Ashley R. (1); Fogh, Isabella (1); Corcia, Philippe (1); Couratier, Philippe (1); Hardiman, Orla (1); Silani, Vincenzo (1); Veldink, Jan H. (1); de Carvalho, Mamede (1); Povedano Panades, Mó ... (1); Weber, Markus (1); Shaw, Christopher E. (1); van Rheenen, Wouter (1); Talbot, Kevin (1); Daoud, Hussein (1); Gitler, Aaron D. (1); Van Broeckhoven, Chr ... (1); Rademakers, Rosa (1); Chandran, Siddhartha ... (1); Chio, Adriano (1); Danielsson, Olof (1); Desnuelle, Claude (1); Grehl, Torsten (1); Grosskreutz, Julian (1); Holmoy, Trygve (1); Ingre, Caroline (1); Karlsborg, Merete (1); Kleveland, Grethe (1); Christoph Koch, Jan (1); Koritnik, Blaz (1); KuzmaKozakiewicz, Ma ... (1); Laaksovirta, Hannu (1); Ludolph, Albert (1); McDermott, Christoph ... (1); Meyer, Thomas (1); Mitre Ropero, Bernar ... (1); Mora Pardina, Jesus (1); Nygren, Ingela (1); Petri, Susanne (1); Shaw, Pamela (1); Staaf, Gert (1); Svenstrup, Kirsten (1); Tysnes, Ole-Bjorn (1); van der Kooi, Anneke (1); show less...

University: Umeå University (2); Uppsala University (1); Linköping University (1); Lund University (1); Karolinska Institutet (1)

Language: English (2)

Research subject (UKÄ/SCB): Medical and Health Sciences (2)

Year: 2017 (2)Undo refine

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