Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype.

Cooper-Knock J., et al., Frontiers in Molecular Neuroscience, 2017

Amyotrophic lateral sclerosis (ALS) is underpinned by an oligogenic rare variant architecture. Identified genetic variants of ALS include RNA-binding proteins […]

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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Nicolas A., et al., Neuron, 2018

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study […]

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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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