INTRODUCTION Brain disorders may exhibit shared symptoms and substantial epidemiological
comorbidity, inciting debate about their etiologic overlap. However, detailed study of …

Frontotemporal lobar degeneration (FTLD) comprises two main classes of neurodegenerative
diseases characterized by neuronal/glial proteinaceous inclusions (ie, proteinopathies) …

Context.—The use of DNA- and RNA-based tests continues to grow for applications as varied
as inherited disease, infectious disease, cancer, identity testing, human leukocyte antigen …

The Alzheimer Disease Genetics Consortium (ADGC) performed a genome-wide association
study of late-onset Alzheimer disease using a three-stage design consisting of a discovery …

Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing
protein (VCP) gene in an Italian family with autosomal dominantly inherited amyotrophic …

The causes of amyotrophic lateral sclerosis (ALS), a devastating human neurodegenerative
disease, are poorly understood, although the protein TDP-43 has been suggested to have a …

Background We aimed to accurately estimate the frequency of a hexanucleotide repeat
expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic …

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 …

Objective To see whether the distribution patterns of phosphorylated 43kDa TAR DNA‐binding
protein (pTDP‐43) intraneuronal inclusions in amyotrophic lateral sclerosis (ALS) permit …

Background TDP-43 is a major component of the ubiquitinated inclusions that characterise
amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) with …