about
The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic dataRare coding variants in the phospholipase D3 gene confer risk for Alzheimer's diseaseMutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesisMutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystoniaNovel genetic loci underlying human intracranial volume identified through genome-wide associationGenome-wide meta-analysis identifies new susceptibility loci for migraine.Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies.Insights into TREM2 biology by network analysis of human brain gene expression data.Analysis of gene expression data using a linear mixed model/finite mixture model approach: application to regional differences in the human brain.Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue.Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy.Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel.Common genetic variants influence human subcortical brain structuresAge-associated changes in gene expression in human brain and isolated neuronsFine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus.Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain.MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.Investigating the utility of human embryonic stem cell-derived neurons to model ageing and neurodegenerative disease using whole-genome gene expression and splicing analysis.Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk LociResolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies.Identification of common variants associated with human hippocampal and intracranial volumes.Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.Widespread sex differences in gene expression and splicing in the adult human brain.Novel genetic loci associated with hippocampal volume.Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue.Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant informationGenome-wide human brain eQTLs: In-depth analysis and insights using the UKBEC dataset
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description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Daniah Trabzuni
@ast
Daniah Trabzuni
@en
Daniah Trabzuni
@es
Daniah Trabzuni
@nl
Daniah Trabzuni
@sl
type
label
Daniah Trabzuni
@ast
Daniah Trabzuni
@en
Daniah Trabzuni
@es
Daniah Trabzuni
@nl
Daniah Trabzuni
@sl
prefLabel
Daniah Trabzuni
@ast
Daniah Trabzuni
@en
Daniah Trabzuni
@es
Daniah Trabzuni
@nl
Daniah Trabzuni
@sl
P1053
C-4034-2012
P106
P31
P3829
P496
0000-0003-4826-9570