Amyotrophic lateral sclerosis is characterised by the progressive loss of motor neurons in the
brain and spinal cord. This neurodegenerative syndrome shares pathobiological features …

Two decades after the discovery that 20% of familial amyotrophic lateral sclerosis (ALS)
cases were linked to mutations in the superoxide dismutase-1 (SOD1) gene, a substantial …

Environmental exposure to chemicals and metals may contribute to the risk of sporadic
amyotrophic lateral sclerosis (ALS). Two systematic reviews of the literature on these topics …

Trait-associated genetic variants affect complex phenotypes primarily via regulatory mechanisms
on the transcriptome. To investigate the genetics of gene expression, we performed cis…

Identifying the downstream effects of disease-associated SNPs is challenging. To help
overcome this problem, we performed expression quantitative trait locus (eQTL) meta-analysis in …

We performed a second-generation genome-wide association study of 4,533 individuals with
celiac disease (cases) and 10,750 control subjects. We genotyped 113 selected SNPs with …

Most disease-associated genetic variants are noncoding, making it challenging to design
experiments to understand their functional consequences 1 , 2 . Identification of expression …

Genetic risk factors often localize to noncoding regions of the genome with unknown effects
on disease etiology 1 , 2 . Expression quantitative trait loci (eQTLs) help to explain the …

Background Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive, fatal motor
neuron disease with a variable natural history. There are no accurate models that predict the …

We conducted a genome-wide association study among 2,323 individuals with sporadic
amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with P < …