Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis

Dekker AM, et al., Scientific Reports 2019

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that affects 1 in ~350 individuals. Genetic association studies have established […]

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Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

Tazelaar GHP, et al., Neurobiology of Aging, 2018

NIPA1 (nonimprinted in Prader-Willi/Angelman syndrome 1) mutations are known to cause hereditary spastic paraplegia type 6, a neurodegenerative disease that phenotypically overlaps to some extent […]

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CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence?

Project MinE ALS Sequencing Consortium, Annals of Neurology, 2018

After the initial report of a CHCHD10 mutation in mitochondrial disease with features resembling amyotrophic lateral sclerosis (ALS), CHCHD10 mutations have been considered to […]

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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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