Peter Heutink

Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset.

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

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

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

The hemochromatosis N144H mutation of SLC11A3 gene in patients with type 2 diabetes.

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

Mutations in TITF-1 are associated with benign hereditary chorea.

Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred.

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

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

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

Gene finding in genetically isolated populations.

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

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

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

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

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

A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34.

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

Clinical features and neuroimaging of PARK7-linked parkinsonism.

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

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

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

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

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

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

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

An English kindred with a novel recessive tauopathy and respiratory failure.

A genome-wide search for genes involved in type 2 diabetes in a recently genetically isolated population from the Netherlands.

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

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

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

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

The PCR suite.

Chasing genes in Alzheimer's and Parkinson's disease.

Linkage disequilibrium in young genetically isolated Dutch population.

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

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

Genetics of dizygotic twinning: a feasibility study for a biobank.

Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

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

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

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

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

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

Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

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

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

CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia.

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

Association of the gene encoding neurogranin with schizophrenia in males.

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

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

The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence.

Progranulin mutations in Dutch familial frontotemporal lobar degeneration.

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

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

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

A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.

Benign hereditary chorea: clinical, neuroimaging, and genetic findings.

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

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

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

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

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

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

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

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

Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease.

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

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

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

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

Comprehensive mRNA expression profiling distinguishes tauopathies and identifies shared molecular pathways.

Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population.

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

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

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

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.

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.

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

Melanocortin-4 receptor gene mutations in a Dutch cohort of obese children.

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

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

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.

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

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

The chromosome 9 ALS and FTD locus is probably derived from a single founder.

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

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

Somatic retrotransposition alters the genetic landscape of the human brain.

Catechol-O-methyltransferase Val158Met and the risk of dyskinesias in Parkinson's disease.

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis.

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

C9orf72; abnormal RNA expression is the key.

CAGE-defined promoter regions of the genes implicated in Rett Syndrome.

Evidence for Immune Response, Axonal Dysfunction and Reduced Endocytosis in the Substantia Nigra in Early Stage Parkinson's Disease.

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