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Elsevier, Neurobiology of Aging, 10(35), p. 2420.e13-2420.e14

DOI: 10.1016/j.neurobiolaging.2014.04.014

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Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

Journal article published in 2014 by P. T. van Doormaal, Perry T. C. van Doormaal, Nicola Ticozzi ORCID, Cinzia Gellera ORCID, Antonia Ratti, Franco Taroni, Adriano Chio, Andrea Calvo, Gabriele Mora, Gabriella Restagno, Bryan J. Traynor, Anna Birve, Robin Lemmens, Michael A. van Es, Christiaan G. J. Saris and other authors.
This paper is available in a repository.
This paper is available in a repository.

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Abstract

Sporadic amyotrophic lateral sclerosis is a multifactorial disease of environmental and genetic origin. In a previous large multicenter genome wide study, common genetic variation in the Kinesin-Associated Protein 3 (KIFAP3) gene (rs1541160) was reported to have a significant effect on survival in amyotrophic lateral sclerosis patients. However, this could not be replicated in 3 smaller independent cohorts. We conducted a large multicenter multivariate survival analysis (n = 2362) on the effect of genetic variation in rs1541160. The previously reported beneficial genotype did not show a significant improvement in survival in this patient group.