Reconsidering the causality of TIA1 mutations in ALS

van der Spek, RA., et al., Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2017

no abstract avalaible

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Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

McLaughlin RL, et al., Nature Communications, 2017

We have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological […]

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Detection of long repeat expansions from PCR-free whole-genome sequence data

Dolzhenko E, et al., Genome Res., 2017

Identifying large expansions of short tandem repeats (STRs) such as those that cause amyotrophic lateral sclerosis (ALS) and fragile X […]

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Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

W. van Rheenen et al., European Journal of Human Genetics, 2018

The most recent genome-wide association study in amyotrophic lateral sclerosis (ALS) demonstrates a disproportionate contribution from low-frequency variants to genetic […]

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NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

K. Kenna et al., Nature Genetics, 2016

To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted whole-exome analyses of 1,022 index familial ALS (FALS) […]

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