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

Patient carriers of a C9orf72 repeat expansion exhibit remarkable heterogeneous clinical
and pathological characteristics suggesting the presence of modifying factors. In accordance …

Identifying large expansions of short tandem repeats (STRs), such as those that cause
amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read …

Pathological expansion of a G 4 C 2 repeat, located in the 5'regulatory region of C9orf72, is
the most common genetic cause of frontotemporal lobar degeneration (FTLD) and …

An intronic G 4 C 2 hexanucleotide repeat expansion in C9ORF72 is a major cause of
amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Several mechanisms …

Objective An intronic GGGGCC-repeat expansion of C9ORF72 is the most common genetic
variant of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. The mechanism …

Abstract The GGGGCC (G 4 C 2) repeat expansion in C9ORF72 is the most common cause
of familial amyotrophic lateral sclerosis (ALS), frontotemporal lobar dementia (FTLD) and …

An expanded G 4 C 2 hexanucleotide repeat in the proximal regulatory region of C9orf72 is
a frequent cause of neurodegenerative diseases in the frontotemporal lobar degeneration …

A GGGGCC-repeat expansion in C9orf72 is the most common genetic cause of amyotrophic
lateral sclerosis (ALS) and frontotemporal dementia (FTD) among Caucasians. However …

Objective Advances in amyotrophic lateral sclerosis (ALS) gene discovery, ongoing gene
therapy trials, and patient demand have driven increased use of ALS genetic testing …