The enteric nervous system (ENS) is large, complex and uniquely able to orchestrate
gastrointestinal behaviour independently of the central nervous system (CNS). An intact …

Background Genetic studies have shown that C9orf72, SOD1, TARDBP and FUS are the
most common mutated genes in amyotrophic lateral sclerosis (ALS). Here, we performed a …

Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal
neurodegenerative disorders that are thought to exist on a clinical and pathological …

Considerable progress has been made in unraveling the genetic etiology of amyotrophic
lateral sclerosis (ALS), the most common form of adult-onset motor neuron disease and the …

Classic textbook neurology teaches that amyotrophic lateral sclerosis (ALS) is a
degenerative disease that selectively affects upper and lower motor neurons and is fatal 3–5 …

Exome sequencing is an effective strategy for identifying human disease genes. However,
this methodology is difficult in late-onset diseases where limited availability of DNA from …

Two decades after the discovery that 20% of familial amyotrophic lateral sclerosis (ALS)
cases were linked to mutations in the superoxide dismutase-1 (SOD1) gene, a substantial …

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 …

Mutations in genes that encode RNA-binding proteins (RBPs) have emerged as critical
determinants of neurological diseases, especially motor neuron disorders such as …

Frontotemporal lobar degeneration with TAR DNA-binding protein 43 inclusions (FTLD-
TDP) is the most common pathology associated with frontotemporal dementia (FTD). Repeat …