Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis is characterised by the progressive loss of motor neurons in
the brain and spinal cord. This neurodegenerative syndrome shares pathobiological …
the brain and spinal cord. This neurodegenerative syndrome shares pathobiological …
Controversies and priorities in amyotrophic lateral sclerosis
MR Turner, O Hardiman, M Benatar, BR Brooks… - The Lancet …, 2013 - thelancet.com
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 …
cases were linked to mutations in the superoxide dismutase-1 (SOD1) gene, a substantial …
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis
MA Van Es, HJ Schelhaas, PWJ Van Vught… - Annals of …, 2011 - Wiley Online Library
Objective: Several studies have suggested an increased frequency of variants in the gene
encoding angiogenin (ANG) in patients with amyotrophic lateral sclerosis (ALS) …
encoding angiogenin (ANG) in patients with amyotrophic lateral sclerosis (ALS) …
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
Trait-associated genetic variants affect complex phenotypes primarily via regulatory
mechanisms on the transcriptome. To investigate the genetics of gene expression, we …
mechanisms on the transcriptome. To investigate the genetics of gene expression, we …
Systematic identification of trans eQTLs as putative drivers of known disease associations
Identifying the downstream effects of disease-associated SNPs is challenging. To help
overcome this problem, we performed expression quantitative trait locus (eQTL) meta …
overcome this problem, we performed expression quantitative trait locus (eQTL) meta …
Multiple common variants for celiac disease influencing immune gene expression
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 celiac disease (cases) and 10,750 control subjects. We genotyped 113 selected SNPs …
Disease variants alter transcription factor levels and methylation of their binding sites
Most disease-associated genetic variants are noncoding, making it challenging to design
experiments to understand their functional consequences,. Identification of expression …
experiments to understand their functional consequences,. Identification of expression …
Identification of context-dependent expression quantitative trait loci in whole blood
Genetic risk factors often localize to noncoding regions of the genome with unknown effects
on disease etiology,. Expression quantitative trait loci (eQTLs) help to explain the regulatory …
on disease etiology,. Expression quantitative trait loci (eQTLs) help to explain the regulatory …
[HTML][HTML] Trans-eQTLs Reveal That Independent Genetic Variants Associated with a Complex Phenotype Converge on Intermediate Genes, with a Major Role for the …
RSN Fehrmann, RC Jansen, JH Veldink… - PLoS …, 2011 - journals.plos.org
For many complex traits, genetic variants have been found associated. However, it is still
mostly unclear through which downstream mechanism these variants cause these …
mostly unclear through which downstream mechanism these variants cause these …
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
MA Van Es, JH Veldink, CGJ Saris, HM Blauw… - Nature …, 2009 - nature.com
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 …
amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with …