Lista de obras - Daniah Trabzuni - Dominio Público Uruguay

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

artículo científico publicado en 2015

Age-associated changes in gene expression in human brain and isolated neurons

artículo científico publicado en 2012

Analysis of gene expression data using a linear mixed model/finite mixture model approach: application to regional differences in the human brain

artículo científico publicado en 2014

Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy

artículo científico publicado en 2014

Common genetic variants influence human subcortical brain structures

artículo científico publicado en 2015

Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue.

artículo científico publicado en 2012

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

artículo científico publicado en 2013

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus

artículo científico publicado en 2013

Genome-wide human brain eQTLs: In-depth analysis and insights using the UKBEC dataset

artículo científico publicado en 2019

Genome-wide meta-analysis identifies new susceptibility loci for migraine

artículo científico publicado en 2013

Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel

artículo científico publicado en 2013

Identification of common variants associated with human hippocampal and intracranial volumes

artículo científico publicado en 2012

Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci

artículo científico publicado en 2013

Insights into TREM2 biology by network analysis of human brain gene expression data

artículo científico publicado en 2013

Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain

artículo científico publicado en 2012

Investigating the utility of human embryonic stem cell-derived neurons to model ageing and neurodegenerative disease using whole-genome gene expression and splicing analysis

artículo científico publicado en 2012

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

artículo científico publicado en 2012

MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration

artículo científico publicado en 2021

Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis

artículo científico publicado en 2012

Mutations in HPCA cause autosomal-recessive primary isolated dystonia

artículo científico publicado en 2015

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

artículo científico publicado en 2013

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

artículo científico publicado en 2013

Novel genetic loci associated with hippocampal volume

scientific article published on 18 January 2017

Novel genetic loci underlying human intracranial volume identified through genome-wide association

artículo científico publicado en 2016

Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue

artículo científico publicado en 2011

Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies

artículo científico publicado en 2011

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

artículo científico publicado en 2014

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

artículo científico publicado en 2020

Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies

artículo científico publicado en 2013

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

artículo científico publicado en 2014

Widespread sex differences in gene expression and splicing in the adult human brain

artículo científico publicado en 2013

Lista de obras de Daniah Trabzuni

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

Age-associated changes in gene expression in human brain and isolated neurons

Analysis of gene expression data using a linear mixed model/finite mixture model approach: application to regional differences in the human brain

Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy

Common genetic variants influence human subcortical brain structures

Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue.

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus

Genome-wide human brain eQTLs: In-depth analysis and insights using the UKBEC dataset

Genome-wide meta-analysis identifies new susceptibility loci for migraine

Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel

Identification of common variants associated with human hippocampal and intracranial volumes

Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci

Insights into TREM2 biology by network analysis of human brain gene expression data

Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain

Investigating the utility of human embryonic stem cell-derived neurons to model ageing and neurodegenerative disease using whole-genome gene expression and splicing analysis

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration

Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis

Mutations in HPCA cause autosomal-recessive primary isolated dystonia

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

Novel genetic loci associated with hippocampal volume

Novel genetic loci underlying human intracranial volume identified through genome-wide association

Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue

Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

Widespread sex differences in gene expression and splicing in the adult human brain