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 …

Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic
disorders with autosomal dominant inheritance. We aim to provide an update on the recent …

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 …

Early reports of cognitive and behavioural deficits in motor neuron disease might have been
overlooked initially, but the concept of a frontotemporal dementia-motor neuron disease …

Objective To determine the prevalence of hypermetabolism, relative to body composition, in
amyotrophic lateral sclerosis (ALS) and its relationship with clinical features of disease and …

Amyotrophic lateral sclerosis (ALS) is a genetically heterogeneous neurodegenerative
syndrome hallmarked by adult-onset loss of motor neurons. We performed exome …

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

Recent research has established clear connections between G‐quadruplexes and human
disease. Features of quadruplex structures that promote genomic instability have been …

Dysregulation of RNA metabolism represents an important pathogenetic mechanism in both
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) due to the …

Amyotrophic lateral sclerosis (ALS) is a heterogeneous group of neurological conditions
which have in common the progressive degeneration of upper and lower motor neurons …