Amyotrophic lateral sclerosis is a fatal CNS neurodegenerative disease. Despite intensive
research, current management of amyotrophic lateral sclerosis remains suboptimal from …

Amyotrophic lateral sclerosis is a fatal neurodegenerative disease. The discovery of genes
associated with amyotrophic lateral sclerosis, commencing with SOD1 in 1993, started fairly …

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

Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …

The diagnosis of amyotrophic lateral sclerosis can be challenging due to its heterogeneity in
clinical presentation and overlap with other neurological disorders. Diagnosis early in the …

The genetic and molecular basis of ALS is increasingly examined on single-cell resolution.
In the past 2 years, the understanding of the downstream mechanisms of several ALS genes …

Protein aggregation is a hallmark of neurodegenerative diseases. However, the mechanism
that induces pathogenic aggregation is not well understood. Recently, it has emerged that …

Pathogenic short tandem repeat (STR) expansions cause over 20 neurodegenerative
diseases. To determine the contribution of STRs in sporadic amyotrophic lateral sclerosis …

Intellectual disability and autism spectrum disorder (ASD) are common, and genetic testing
is increasingly performed in individuals with these diagnoses to inform prognosis, refine …

Background A genetic diagnosis in Amyotrophic Lateral Sclerosis (ALS) can inform genetic
counselling, prognosis and, in the light of incoming gene-targeted therapy, management …