Recent advances in sequencing technologies and collaborative efforts have led to
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …

The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …

The discovery that repeat expansions in the C9orf72 gene are a frequent cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …

Background Short tandem repeat (STR) expansion disorders are an important cause of
human neurological disease. They have an established role in more than 40 different …

Hexanucleotide expansions in C9ORF72 are the most frequent genetic cause of
amyotrophic lateral sclerosis and frontotemporal dementia. Disease mechanisms were …

Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disease, characterized
genetically by a disproportionately large contribution of rare genetic variation. Driven by …

When the non-coding repeat expansion in the C9ORF72 gene was discovered to be the
most frequent cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis …

A GGGGCC hexanucleotide repeat expansion in the C9orf72 gene is the most common
genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9 ALS/FTD) …

Mechanisms of protein homeostasis are crucial for overseeing the clearance of misfolded
and toxic proteins over the lifetime of an organism, thereby ensuring the health of neurons …

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 …