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A Functional polymorphism under positive evolutionary selection in ADRB2 is associated with human intelligence with opposite effects in the young and the elderly

artículo científico publicado en 2008

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia

artículo científico publicado en 2017

A double RING-H2 domain in RNF32, a gene expressed during sperm formation

artículo científico publicado en 2002

A fine-mapping study of 7 top scoring genes from a GWAS for major depressive disorder

artículo científico publicado en 2012

A genome-wide search for linkage-disequilibrium with type 1 diabetes in a recent genetically isolated population from the Netherlands

artículo científico publicado en 2002

A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population

artículo científico publicado en 2007

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

artículo científico publicado en 2011

A longitudinal twin study on IQ, executive functioning, and attention problems during childhood and early adolescence.

artículo científico publicado en 2006

A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]

artículo científico publicado en 2003

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

article by Sven J. van der Lee et al published 27 May 2019 in Acta Neuropathologica

A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease

artículo científico publicado en 2002

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

artículo científico publicado en 2012

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

artículo científico publicado en 2013

Accurate prediction of a minimal region around a genetic association signal that contains the causal variant

artículo científico publicado en 2013

Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance

artículo científico publicado en 2016

An English kindred with a novel recessive tauopathy and respiratory failure

artículo científico publicado en 2003

An atlas of active enhancers across human cell types and tissues

artículo científico publicado en 2014

Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk

artículo científico publicado en 2013

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

artículo científico

Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23.

artículo científico publicado en 2002

Apolipoprotein E genotype does not affect the age of onset of dementia in families with defined tau mutations

article

Association between genetic variation in the gene for insulin-like growth factor-I and low birthweight

artículo científico publicado en 2002

Association of the gene encoding neurogranin with schizophrenia in males

artículo científico publicado en 2008

Attention problems and attention-deficit/hyperactivity disorder in discordant and concordant monozygotic twins: evidence of environmental mediators

artículo científico publicado en 2007

Author Correction: Transcription start site profiling of 15 anatomical regions of the Macaca mulatta central nervous system

scholarly article published in Scientific Data

Benign hereditary chorea: clinical, neuroimaging, and genetic findings

artículo científico publicado en 2007

C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis

artículo científico publicado en 2014

C9orf72; abnormal RNA expression is the key.

artículo científico publicado en 2014

CHCHD2 and Parkinson's disease.

artículo científico publicado en 2015

CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder

artículo científico publicado en 2003

Catechol O-methyl transferase and dopamine D2 receptor gene polymorphisms: evidence of positive heterosis and gene-gene interaction on working memory functioning

artículo científico publicado en 2008

Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia

artículo científico publicado en 2016

Cervical dystonia and genetic common variation in the dopamine pathway

artículo científico publicado en 2012

Characterization of ZNF333, a novel double KRAB domain containing zinc finger gene on human chromosome 19p13.1.

artículo científico publicado en 2002

Chasing genes in Alzheimer's and Parkinson's disease

artículo científico publicado en 2004

Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS.

artículo científico publicado en 2004

Chromosome 9 ALS and FTD locus is probably derived from a single founder

artículo científico publicado en 2011

Clinical features and neuroimaging of PARK7-linked parkinsonism

artículo científico publicado en 2003

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

artículo científico publicado en 2010

Comprehensive mRNA expression profiling distinguishes tauopathies and identifies shared molecular pathways

artículo científico publicado en 2009

Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe

artículo científico publicado en 2016

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database

artículo científico publicado en 2012

Construction of a Detailed Physical and Transcript Map of the FTDP-17 Candidate Region on Chromosome 17q21

Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease

artículo científico publicado en 2012

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study

artículo científico publicado en 2014

Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.

artículo científico publicado en 2014

DGEclust: differential expression analysis of clustered count data

artículo científico publicado en 2015

DJ-1 colocalizes with tau inclusions: a link between parkinsonism and dementia

artículo científico publicado en 2004

DJ-1 transcriptionally up-regulates the human tyrosine hydroxylase by inhibiting the sumoylation of pyrimidine tract-binding protein-associated splicing factor

artículo científico publicado en 2006

Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data

artículo científico publicado en 2016

Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study

artículo científico publicado en 2015

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

artículo científico publicado en 2017

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

artículo científico publicado en 2002

Disruption of the C7orf2/Lmbr1 genic region is associated with preaxial polydactyly in humans and mice

artículo científico publicado en 2003

Dissecting the genetic make-up of North-East Sardinia using a large set of haploid and autosomal markers

artículo científico publicado en 2012

Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study

artículo científico publicado en 2010

Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics

artículo científico publicado en 2002

Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells

artículo científico publicado en 2014

Drosophila DJ-1 mutants are selectively sensitive to environmental toxins associated with Parkinson's disease

artículo científico publicado en 2005

Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation

article

Empirical assessment of the validity of the 'fundamental theorem of the HapMap' in the light of 'cryptic' tagging of multiple susceptibility loci

artículo científico publicado en 2008

Establishing the role of rare coding variants in known Parkinson's disease risk loci

artículo científico publicado en 2017

Evidence for novel loci for late-onset Parkinson’s disease in a genetic isolate from the Netherlands

article

Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease

artículo científico publicado en 2017

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

artículo científico publicado en 2013

Exploring the functional role of the CHRM2 gene in human cognition: results from a dense genotyping and brain expression study

artículo científico publicado en 2007

Extended kindred with recessive late-onset Alzheimer disease maps to locus 8p22-p21.2: a genome-wide linkage analysis

artículo científico publicado en 2012

FADS2 Genetic Variance in Combination with Fatty Acid Intake Might Alter Composition of the Fatty Acids in Brain

artículo científico publicado en 2013

Familial influence on parkinsonism in a rural area of Turkey (Kizilcaboluk-Denizli): a community-based case-control study

artículo científico publicado en 2003

Family-based and case-control studies reveal no association of lipocalin-type prostaglandin D2 synthase with schizophrenia

artículo científico publicado en 2007

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

artículo científico publicado en 2013

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

artículo científico publicado en 2012

From single genes to gene networks: high-throughput-high-content screening for neurological disease

scientific article published on October 2010

Frontotemporal dementia and its subtypes: a genome-wide association study

artículo científico publicado en 2014

Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study

artículo científico publicado en 2003

Functional gene group analysis reveals a role of synaptic heterotrimeric G proteins in cognitive ability

artículo científico publicado en 2010

Gene finding in genetically isolated populations

artículo científico publicado en 2002

Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia

artículo científico publicado en 2017

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration

artículo científico publicado en 2011

Genetic comorbidities in Parkinson's disease

artículo científico publicado en 2013

Genetics of Dizygotic Twinning: A Feasibility Study for a Biobank

article

Genetics of dizygotic twinning: a feasibility study for a biobank

artículo científico publicado en 2004

Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases

artículo científico publicado en 2017

Genome-wide association of major depression: description of samples for the GAIN Major Depressive Disorder Study: NTR and NESDA biobank projects

artículo científico publicado en 2008

Genome-wide association study confirms extant PD risk loci among the Dutch

artículo científico publicado en 2011

Genome-wide prediction of functional gene-gene interactions inferred from patterns of genetic differentiation in mice and men.

artículo científico publicado en 2008

Global similarity with local differences in linkage disequilibrium between the Dutch and HapMap-CEU populations

artículo científico publicado en 2009

High content screening in neurodegenerative diseases

artículo científico publicado en 2012

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

artículo científico publicado en 2011

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

artículo científico publicado en 2011

Intrapair differences in hippocampal volume in monozygotic twins discordant for the risk for anxiety and depression

artículo científico publicado en 2006

Investigation of a patient with a partial trisomy 16q including the fat mass and obesity associated gene (FTO): fine mapping and FTO gene expression study.

artículo científico publicado en 2010

Is the MC1R variant p.R160W associated with Parkinson's?

artículo científico publicado en 2015

Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring

artículo científico publicado en 2003

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

artículo científico publicado en 2014

Linkage disequilibrium in young genetically isolated Dutch population

article

Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's disease

artículo científico publicado en 2004

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

scientific journal article

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease

artículo científico publicado en 2015

Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies

artículo científico publicado en 2006

Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients

artículo científico publicado en 2016

Mutations in TITF-1 are associated with benign hereditary chorea

artículo científico publicado en 2002

Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia

artículo científico publicado en 2008

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

artículo científico publicado en 2003

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

artículo científico publicado en 2013

Neonatal porencephaly and adult stroke related to mutations in collagen IV A1

article published in 2006

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

artículo científico publicado en 2017

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

artículo científico publicado en 2015

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

article

Novel parkin mutations detected in patients with early-onset Parkinson's disease

artículo científico publicado en 2005

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

artículo científico publicado en 2014

Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report

artículo científico publicado en 2011

Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture

artículo científico publicado en 2013

Phenotypic variation in frontotemporal dementia and parkinsonism linked to chromosome 17.

artículo científico publicado en 2004

Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants

artículo científico publicado en 2015

Polygenic risk of Parkinson disease is correlated with disease age at onset

artículo científico publicado en 2015

Prediction of cognition in Parkinson's disease with a clinical-genetic score: a longitudinal analysis of nine cohorts

artículo científico

Profiling transcription initiation in human aged brain using deep-CAGE.

artículo científico publicado en 2011

Reassessing the Evolutionary History of the 17q21 Inversion Polymorphism

artículo científico publicado en 2015

Resequencing three candidate genes for major depressive disorder in a Dutch cohort

artículo científico publicado en 2013

Role of COL4A1 in small-vessel disease and hemorrhagic stroke

artículo científico publicado en 2006

Screening of the epsilon sarcoglycan gene in Tourette syndrome and obsessive compulsive disorder

article

Serum Levels of Progranulin Do Not Reflect Cerebrospinal Fluid Levels in Neurodegenerative Disease

artículo científico publicado en 2016

Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's

scientific article published on 22 September 2016

Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype

artículo científico publicado en 2006

Suggestive linkage to chromosome 19 in a large Cuban family with late-onset Parkinson's disease

artículo científico publicado en 2003

Tau and neurofilaments in a family with frontotemporal dementia unlinked to chromosome 17q21-22.

artículo científico publicado en 2003

The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes

artículo científico publicado en 2003

The DeltaK280 mutation in MAP tau favors exon 10 skipping in vivo

artículo científico publicado en 2007

The PCR suite.

artículo científico publicado en 2004

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

artículo científico publicado en 2013

The complete automation of cell culture: improvements for high-throughput and high-content screening

artículo científico publicado en 2011

The role of the COMT Val(158)Met polymorphism in the phenotypic expression of obsessive-compulsive disorder.

artículo científico publicado en 2010

The role of the brain-derived neurotrophic factor (BDNF) val66met variant in the phenotypic expression of obsessive-compulsive disorder (OCD).

artículo científico publicado en 2009

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects

artículo científico publicado en 2017

Total tau and phosphorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301L and G272V tau mutations

artículo científico publicado en 2003

Transcription start site profiling of 15 anatomical regions of the Macaca mulatta central nervous system

artículo científico publicado en 2017

Translational research in genomics of Alzheimer's disease: a review of current practice and future perspectives

scientific article published on January 2010

Transthyretin: no association between serum levels or gene variants and schizophrenia

artículo científico publicado en 2006

Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration

artículo científico publicado en 2009

Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities

artículo científico publicado en 2012

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

artículo científico publicado en 2012

Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinson's disease

artículo científico publicado en 2013

Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R.

artículo científico publicado en 2003

Variation in PARK10 is not associated with risk and age at onset of Parkinson's disease in large clinical cohorts

artículo científico publicado en 2015