Publications - Project MinE

Research

Publications

Project MinE* is a patient-driven groundbreaking genetic ALS research. The project is a worldwide collaboration between ALS centres and foundations.

All Project MinE data used in the listed publications were made accessible and available through funding by the Dutch ALS Foundation and co-funding by the PPP Allowance made available by Health~Holland, Top Sector Life Sciences & Health, to stimulate public-private partnerships.

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

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 […]

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 […]