Research

Publications

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

 

*Eur J Hum Genet. 2018 Jun 28. doi: 10.1038/s41431-018-0177-4.

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 […]

Read more

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 […]

Read more

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 […]

Read more

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 […]

Read more

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 […]

Read more