Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

…, D Clay-Falcone, L McCluskey, L Elman… - Nature, 2010 - nature.com
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 …

Stages of pTDP‐43 pathology in amyotrophic lateral sclerosis

…, Y Baek, L Kwong, EB Lee, L Elman… - Annals of …, 2013 - Wiley Online Library
Objective To see whether the distribution patterns of phosphorylated 43kDa TAR DNA‐binding
protein (pTDP‐43) intraneuronal inclusions in amyotrophic lateral sclerosis (ALS) permit …

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

…, SM Pulst, S Gibson, JQ Trojanowski, L Elman… - Science, 2015 - science.org
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 …

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

…, LM Bekris, TD Bird, W Yuan, LB Elman… - The Lancet …, 2008 - thelancet.com
Background TDP-43 is a major component of the ubiquitinated inclusions that characterise
amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) with …

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

…, VM Van Deerlin, JQ Trojanowski, L Elman… - Nature …, 2016 - nature.com
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find
associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced …

Neurodegenerative disease concomitant proteinopathies are prevalent, age-related and APOE4-associated

…, B Miller, JE Duda, DJ Irwin, D Wolk, L Elman… - Brain, 2018 - academic.oup.com
… M Van Deerlin, Ning Yan, Ahmed Yousef, Howard I Hurtig, Andrew Siderowf, Murray Grossman,
Corey T McMillan, Bruce Miller, John E Duda, David J Irwin, David Wolk, Lauren Elman, …

A yeast functional screen predicts new candidate ALS disease genes

…, D Clay-Falcone, L Elman… - Proceedings of the …, 2011 - National Acad Sciences
Amyotrophic lateral sclerosis (ALS) is a devastating and universally fatal neurodegenerative
disease. Mutations in two related RNA-binding proteins, TDP-43 and FUS, that harbor prion-…

Enrichment of C-terminal fragments in TAR DNA-binding protein-43 cytoplasmic inclusions in brain but not in spinal cord of frontotemporal lobar degeneration and …

…, K Uryu, M Neumann, CM Clark, LB Elman… - The American journal of …, 2008 - Elsevier
TAR DNA-binding protein (TDP-43) has been recently described as a major pathological
protein in both frontotemporal dementia with ubiquitin-positive inclusions (FTLD-U) and …

Evidence of multisystem disorder in whole-brain map of pathological TDP-43 in amyotrophic lateral sclerosis

…, LK Kwong, M Martinez-Lage, L Elman… - Archives of …, 2008 - jamanetwork.com
Background Pathological 43-kDa transactivating responsive sequence DNA-binding protein
(TDP-43) has been identified recently as the major disease protein in amyotrophic lateral …

Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis

…, KL Williams, D Clay-Falcone, L Elman… - Human molecular …, 2012 - academic.oup.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease affecting motor
neurons. Mutations in related RNA-binding proteins TDP-43, FUS/TLS and TAF15 have been …