Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis

UNC13A confers risk for sporadic ALS and influences survival in a Spanish cohort

(2015) Jose Manuel Vidal-Taboada et al.   JOURNAL OF NEUROLOGY

Loss of SOX2 expression induces cell motility via vimentin up-regulation and is an unfavorable risk factor for survival of head and neck squamous cell carcinoma

(2015) Pilar Bayo et al.   Molecular Oncology

Syntaxin opening by the MUN domain underlies the function of Munc13 in synaptic-vesicle priming

(2015) Xiaoyu Yang et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Neurodegeneration in C. elegans models of ALS requires TIR-1/Sarm1 immune pathway activation in neurons

(2015) Julie Vérièpe et al.   Nature Communications

Syntaxin opening by the MUN domain underlies the function of Munc13 in synaptic-vesicle priming

(2015) Xiaoyu Yang et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Variant Association Tools for Quality Control and Analysis of Large-Scale Sequence and Genotyping Array Data

(2014) Gao T. Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic variability in the regulation of gene expression in ten regions of the human brain

(2014) Adaikalavan Ramasamy et al.   NATURE NEUROSCIENCE

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

(2014) Perry T.C. van Doormaal et al.   NEUROBIOLOGY OF AGING

The epidemiology of ALS: a conspiracy of genes, environment and time

(2013) Ammar Al-Chalabi et al.   Nature Reviews Neurology

TDP-43, an ALS Linked Protein, Regulates Fat Deposition and Glucose Homeostasis

(2013) Nancy R. Stallings et al.   PLoS One

Detecting Rare Variant Effects Using Extreme Phenotype Sampling in Sequencing Association Studies

(2012) Ian J. Barnett et al.   GENETIC EPIDEMIOLOGY

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis

(2012) Mary J Emond et al.   NATURE GENETICS

EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans

(2012) Annelies Van Hoecke et al.   NATURE MEDICINE

UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study

(2012) Adriano Chiò et al.   NEUROBIOLOGY OF AGING

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Integrated annotation and analysis of genetic variants from next-generation sequencing studies with variant tools

(2011) F. A. San Lucas et al.   BIOINFORMATICS

Clinical diagnosis and management of amyotrophic lateral sclerosis

(2011) Orla Hardiman et al.   Nature Reviews Neurology

UNC13A is a modifier of survival in amyotrophic lateral sclerosis

(2011) Frank P. Diekstra et al.   NEUROBIOLOGY OF AGING

ALS genetic modifiers that increase survival of SOD1 mice and are suitable for therapeutic development

(2011) Giulietta Riboldi et al.   PROGRESS IN NEUROBIOLOGY

Impaired glucose tolerance in patients with amyotrophic lateral sclerosis

(2010) Pierre-Francois Pradat et al.   Amyotrophic Lateral Sclerosis

An estimate of amyotrophic lateral sclerosis heritability using twin data

(2010) A. Al-Chalabi et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

(2010) Aleksey Shatunov et al.   LANCET NEUROLOGY

Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients

(2010) B. J. Traynor et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

(2009) Michael A van Es et al.   NATURE GENETICS

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

(2009) J. E. Landers et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA