C9orf72 hexanucleotide repeat expansions are the most common cause of familial
frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) worldwide. The …

INTRODUCTION: Amyotrophic lateral sclerosis (ALS) or motor neuron disease is a rapidly
progressive neurodegenerative disorder. The primary involvement is of motor neurons in the …

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

Background Free radical accumulation and oxidative stress have been proposed as
contributing to the progression of amyotrophic lateral sclerosis (or motor neuron disease). A …

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 …

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 …

Objective: To test blood and CSF neurofilament light chain (NfL) levels in relation to disease
progression and survival in amyotrophic lateral sclerosis (ALS). Methods: Using an …

Hexanucleotide repeat expansions in C9orf72 are a major cause of frontotemporal lobar
degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Understanding the disease …

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