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Genetic risk and architecture of amyotrophic lateral sclerosis

by Rheenen W van

Institution: University Utrecht
Year: 2017
Posted: 02/01/2018
Record ID: 2156589
Full text PDF: http://dspace.library.uu.nl/handle/1874/348188;URN:NBN:NL:UI:10-1874-348188;urn:isbn:978-90-393-6744-5


Abstract

The aim of this thesis was to identify new genetic susceptibility factors, describe the genetic architecture of ALS and explore the utility of gene expression profiles as a biomarker for ALS. Following the technical advances over time, this thesis includes single gene studies, genome-wide associations studies (GWAS), transcriptome analyses and whole genome sequencing studies. Leveraged together, they have led to several conclusions and perspectives.Advisors/Committee Members: Veldink, Jan Herman, van den Berg, Leonard.

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