Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

van Rheenen W, et al., Nature Genetics 2021

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an […]

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Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database

Tunca C, et al., Human Mutation 2020

The last decade has proven that amyotrophic lateral sclerosis (ALS) is clinically and genetically heterogeneous, and that the genetic component […]

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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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