Publications - Project MinE

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 […]

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 […]

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 […]

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 […]

Reconsidering the causality of TIA1 mutations in ALS

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

no abstract avalaible

Research

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

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

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

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Reconsidering the causality of TIA1 mutations in ALS