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Rick A.A. van der Spek

Researcher at Utrecht University

Publications -  21
Citations -  1680

Rick A.A. van der Spek is an academic researcher from Utrecht University. The author has contributed to research in topics: Project MinE & Amyotrophic lateral sclerosis. The author has an hindex of 13, co-authored 21 publications receiving 1008 citations. Previous affiliations of Rick A.A. van der Spek include University Medical Center Utrecht.

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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Wouter van Rheenen, +187 more
- 01 Sep 2016 - 
TL;DR: Evidence of ALS being a complex genetic trait with a polygenic architecture is established and the SNP-based heritability is estimated at 8.5%, with a distinct and important role for low-frequency variants (frequency 1–10%).
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Aude Nicolas, +435 more
- 21 Mar 2018 - 
TL;DR: Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia and Charcot-Marie-Tooth type 2.
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Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors.

Mark K Bakker, +88 more
- 16 Nov 2020 - 
TL;DR: A cross-ancestry, genome-wide association study in 10,754 cases and 306,882 controls of European and East Asian ancestry discovered 17 risk loci, 11 of which are new, which reveal a polygenic architecture and explain over half of the disease heritability.
Posted ContentDOI

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Wouter van Rheenen, +212 more
- 18 Mar 2021 - 
TL;DR: All ALS associated signals combined reveal a role for perturbations in vesicle mediated transport and autophagy, and provide evidence for cell-autonomous disease initiation in glutamatergic neurons.
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Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

Russell L. McLaughlin, +488 more
TL;DR: It is likely that shared neurobiological mechanisms between these two disorders will engender novel hypotheses in future preclinical and clinical studies, and five potential novel ALS-associated loci are identified using conditional false discovery rate analysis.