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Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
Published on: July 16, 2021
Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study
Perry T C van Doormaal1, Nicola Ticozzi2, Cinzia Gellera3
1Department of Neurology, University Medical Center Utrecht, Rudolf Magnus Institute of Neuroscience, Utrecht, the Netherlands.
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.
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