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) …

Aberrant splicing is a major cause of genetic disorders but its direct detection in
transcriptomes is limited to clinically accessible tissues such as skin or body fluids. While …

Amyotrophic lateral sclerosis (ALS) is a fatal disease of motor neuron degeneration with
typical survival of only 2–5 years from diagnosis. The causes of ALS are multifactorial …

Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disease that is
classically thought to impact the motor system. Over the past 20 years, research has started …

Objective The clinical utility of routine genetic sequencing in amyotrophic lateral sclerosis
(ALS) is uncertain. Our aim was to determine whether routine targeted sequencing of 44 …

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

Simulation is a key tool in population genetics for both methods development and empirical
research, but producing simulations that recapitulate the main features of genomic datasets …

Although the past two decades have produced exciting discoveries in the genetics and
pathology of amyotrophic lateral sclerosis (ALS), progress in developing an effective therapy …