Recently, TDP-43 was identified as a key component of ubiquitinated aggregates in
amyotrophic lateral sclerosis (ALS), an adult-onset neurological disorder that leads to the …

Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective
treatment. We report the results of a moderate-scale sequencing study aimed at increasing the …

TDP-43 has been found in inclusion bodies of multiple neurological disorders, including
amyotrophic lateral sclerosis, frontotemporal dementia, Parkinson's disease and Alzheimer's …

Schizophrenia is a severe psychiatric disorder that profoundly affects cognitive, behavioral
and emotional processes. The wide spectrum of symptoms and clinical variability in …

Exome sequencing is an effective strategy for identifying human disease genes. However,
this methodology is difficult in late-onset diseases where limited availability of DNA from …

The past few years have seen the identification of dozens of genes with causal roles in
motor neuron diseases (MNDs), particularly for amyotrophic lateral sclerosis and hereditary …

The past decade has seen great advances in unraveling the biological basis of hereditary
ataxias. Molecular studies of spinocerebellar ataxias (SCA) have extended our understanding …

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk
of one in 350 people and an unmet need for disease-modifying therapies. We conducted a …

Parkinson disease (PD), once considered as a prototype of a sporadic disease, is now known
to be considerably affected by various genetic factors, which interact with environmental …

To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted
whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a …