Variants of UNC13A, a critical gene for synapse function, increase the risk of amyotrophic
lateral sclerosis and frontotemporal dementia 1 , 2 – 3 , two related neurodegenerative …

An expanded GGGGCC repeat in C9orf72 is the most common genetic cause of frontotemporal
dementia and amyotrophic lateral sclerosis. A fundamental question is whether toxicity is …

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

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 …

Late-onset ataxia is common, often idiopathic, and can result from cerebellar, proprioceptive,
or vestibular impairment; when in combination, it is also termed cerebellar ataxia, …

Mutations in the gene superoxide dismutase 1 (SOD1) are causative for familial forms of the
neurodegenerative disease amyotrophic lateral sclerosis. When the first SOD1 mutations …

An expanded GGGGCC repeat in a non-coding region of the C9orf72 gene is a common
cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis. Non-…

Large expansions of a non-coding GGGGCC-repeat in the first intron of the C9orf72 gene are
a common cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (…