The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD)
locus contains one of the last major unidentified autosomal-dominant genes underlying these …

Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing
protein (VCP) gene in an Italian family with autosomal dominantly inherited amyotrophic …

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 amyotrophic …

To identify novel genes associated with ALS, we undertook two lines of investigation. We
carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls…

MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein
linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Using exome …

A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene
located on chromosome 9p21, has been recently reported to be responsible for ∼40% of …

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

Objective: To perform an extensive screening for mutations of amyotrophic lateral sclerosis (ALS)–related
genes in a consecutive cohort of Sardinian patients, a genetic isolate …

Objective: To assess whether genetic subgroups in recent amyotrophic lateral sclerosis (ALS)
trials responded to treatment with lithium carbonate, but that the treatment effect was lost in …

Strong evidence suggests that endoplasmic reticulum stress plays a critical role in the
pathogenesis of amyotrophic lateral sclerosis (ALS) through altered regulation of proteostasis. …