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.
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 moreAfter the initial report of a CHCHD10 mutation in mitochondrial disease with features resembling amyotrophic lateral sclerosis (ALS), CHCHD10 mutations have been considered to […]
Read moreAmyotrophic lateral sclerosis (ALS) is underpinned by an oligogenic rare variant architecture. Identified genetic variants of ALS include RNA-binding proteins […]
Read moreTo identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study […]
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