In neurological diseases, the actions of microglia, the resident myeloid cells of the CNS
parenchyma, may diverge from, or intersect with, those of recruited monocytes to drive …

Background We aimed to accurately estimate the frequency of a hexanucleotide repeat
expansion in C9orf72 that has been associated with a large proportion of cases of …

To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find
associated loci, we assembled a custom imputation reference panel from whole-genome …

Background Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease
characterised by a rapid loss of lower and upper motor neurons. As a complex disease, the …

Objective To identify shared polygenic risk and causal associations in amyotrophic lateral
sclerosis (ALS). Methods Linkage disequilibrium score regression and Mendelian …

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with an estimated
heritability between 40 and 50%. DNA methylation patterns can serve as proxies of (past) …

Pathogenic short tandem repeat (STR) expansions cause over 20 neurodegenerative
diseases. To determine the contribution of STRs in sporadic amyotrophic lateral sclerosis …

Background People with neurodegenerative disorders show diverse clinical syndromes,
genetic heterogeneity, and distinct brain pathological changes, but studies report overlap …

Genetic variants may underlie sporadic amyotrophic lateral sclerosis (SALS), but in only a
few percent of patients have causative mutations been found. This is possibly because …

Cross-ethnic genetic studies can leverage power from differences in disease epidemiology
and population-specific genetic architecture. In particular, the differences in linkage …