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 …

The cause of amyotrophic lateral sclerosis (ALS) is still unknown. A possible relationship
between ALS and sport participation has been supposed, but never definitely demonstrated. …

Background Different amyotrophic lateral sclerosis (ALS) phenotypes have been recognised,
marked by a varying involvement of spinal and bulbar upper and lower motor neurons. …

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 …

Bulbar involvement in amyotrophic lateral sclerosis (ALS) is often related to a worse prognosis
on account of the higher risk of pulmonary aspiration and undernutrition due to dysphagia…

Background Amyotrophic lateral sclerosis shares characteristics with some cancers, such
as onset being more common in later life, progression usually being rapid, the disease …

To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted
whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a …

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 …