Peter Heutink

Department of Clinical Genetics, VU University medical center

Affiliated withVU University medical center German Center for Neurodegenerative Diseases (DZNE)University of Tübingen

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JoVE Journal Publications

ArticleTotal : 2	Year
Publication title Cited by 8	2012
Publication title Cited by 30	2020

Other Publications

Article	Year
Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset. Annals of neurology\| PubMed ID: 11835383	2002
A genome-wide search for linkage-disequilibrium with type 1 diabetes in a recent genetically isolated population from the Netherlands. Diabetes\| PubMed ID: 11872691	2002
A double RING-H2 domain in RNF32, a gene expressed during sperm formation. Biochemical and biophysical research communications\| PubMed ID: 11890671	2002
A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease. Annals of neurology\| PubMed ID: 11891833	2002
The hemochromatosis N144H mutation of SLC11A3 gene in patients with type 2 diabetes. Molecular genetics and metabolism\| PubMed ID: 11914044	2002
Association between genetic variation in the gene for insulin-like growth factor-I and low birthweight. Lancet\| PubMed ID: 11937187	2002
Mutations in TITF-1 are associated with benign hereditary chorea. Human molecular genetics\| PubMed ID: 11971878	2002
Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred. European journal of human genetics : EJHG\| PubMed ID: 11973619	2002
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 12032320	2002
Characterization of ZNF333, a novel double KRAB domain containing zinc finger gene on human chromosome 19p13.1. Biochimica et biophysica acta\| PubMed ID: 12151103	2002
Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23. American journal of medical genetics\| PubMed ID: 12210308	2002
Gene finding in genetically isolated populations. Human molecular genetics\| PubMed ID: 12351587	2002
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science (New York, N.Y.)\| PubMed ID: 12446870	2003
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. American journal of human genetics\| PubMed ID: 12489043	2003
Disruption of the C7orf2/Lmbr1 genic region is associated with preaxial polydactyly in humans and mice. Journal of bone and mineral metabolism\| PubMed ID: 12491086	2003
Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics. Blood cells, molecules & diseases\| PubMed ID: 12547233	2002
Tau and neurofilaments in a family with frontotemporal dementia unlinked to chromosome 17q21-22. Neurobiology of disease\| PubMed ID: 12609488	2003
A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34. European journal of human genetics : EJHG\| PubMed ID: 12734547	2003
CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Genomics\| PubMed ID: 12809671	2003
Clinical features and neuroimaging of PARK7-linked parkinsonism. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 12815653	2003
Familial influence on parkinsonism in a rural area of Turkey (Kizilcaboluk-Denizli): a community-based case-control study. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 12815659	2003
Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study. Brain : a journal of neurology\| PubMed ID: 12876142	2003
Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation. Annals of neurology\| PubMed ID: 12891685	2003
Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring. American journal of medical genetics. Part A\| PubMed ID: 12910499	2003
The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes. Human molecular genetics\| PubMed ID: 12952867	2003
Total tau and phosphorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301L and G272V tau mutations. Archives of neurology\| PubMed ID: 12975285	2003
Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R. Annals of neurology\| PubMed ID: 14595646	2003
An English kindred with a novel recessive tauopathy and respiratory failure. Annals of neurology\| PubMed ID: 14595660	2003
A genome-wide search for genes involved in type 2 diabetes in a recently genetically isolated population from the Netherlands. Diabetes\| PubMed ID: 14633863	2003
Suggestive linkage to chromosome 19 in a large Cuban family with late-onset Parkinson's disease. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 14639663	2003
DJ-1 colocalizes with tau inclusions: a link between parkinsonism and dementia. Annals of neurology\| PubMed ID: 14705119	2004
Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS. Annals of neurology\| PubMed ID: 14705124	2004
Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's disease. Journal of molecular medicine (Berlin, Germany)\| PubMed ID: 14712351	2004
The PCR suite. Bioinformatics (Oxford, England)\| PubMed ID: 14751986	2004
Chasing genes in Alzheimer's and Parkinson's disease. Human genetics\| PubMed ID: 14999561	2004
Linkage disequilibrium in young genetically isolated Dutch population. European journal of human genetics : EJHG\| PubMed ID: 15054401	2004
Phenotypic variation in frontotemporal dementia and parkinsonism linked to chromosome 17. Dementia and geriatric cognitive disorders\| PubMed ID: 15178932	2004
Novel parkin mutations detected in patients with early-onset Parkinson's disease. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 15584030	2005
Genetics of dizygotic twinning: a feasibility study for a biobank. Twin research : the official journal of the International Society for Twin Studies\| PubMed ID: 15607005	2004
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science (New York, N.Y.)\| PubMed ID: 15905400	2005
Drosophila DJ-1 mutants are selectively sensitive to environmental toxins associated with Parkinson's disease. Current biology : CB\| PubMed ID: 16139213	2005
Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 16211615	2006
Evidence for novel loci for late-onset Parkinson's disease in a genetic isolate from the Netherlands. Human genetics\| PubMed ID: 16369765	2006
Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. Annals of neurology\| PubMed ID: 16374828	2006
Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies. Nature genetics\| PubMed ID: 16582909	2006
Role of COL4A1 in small-vessel disease and hemorrhagic stroke. The New England journal of medicine\| PubMed ID: 16598045	2006
Transthyretin: no association between serum levels or gene variants and schizophrenia. Journal of psychiatric research\| PubMed ID: 16716350	2007
DJ-1 transcriptionally up-regulates the human tyrosine hydroxylase by inhibiting the sumoylation of pyrimidine tract-binding protein-associated splicing factor. The Journal of biological chemistry\| PubMed ID: 16731528	2006
CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics\| PubMed ID: 16941655	2006
Intrapair differences in hippocampal volume in monozygotic twins discordant for the risk for anxiety and depression. Biological psychiatry\| PubMed ID: 17137562	2007
Association of the gene encoding neurogranin with schizophrenia in males. Journal of psychiatric research\| PubMed ID: 17140601	2008
Attention problems and attention-deficit/hyperactivity disorder in discordant and concordant monozygotic twins: evidence of environmental mediators. Journal of the American Academy of Child and Adolescent Psychiatry\| PubMed ID: 17195733	2007
The DeltaK280 mutation in MAP tau favors exon 10 skipping in vivo. Journal of neuropathology and experimental neurology\| PubMed ID: 17204933	2007
The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence. Human molecular genetics\| PubMed ID: 17220170	2007
Progranulin mutations in Dutch familial frontotemporal lobar degeneration. European journal of human genetics : EJHG\| PubMed ID: 17228326	2007
Family-based and case-control studies reveal no association of lipocalin-type prostaglandin D2 synthase with schizophrenia. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics\| PubMed ID: 17230501	2007
A longitudinal twin study on IQ, executive functioning, and attention problems during childhood and early adolescence. Acta neurologica Belgica\| PubMed ID: 17323837	2006
A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population. American journal of human genetics\| PubMed ID: 17564960	2007
A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p. Human genetics\| PubMed ID: 17938964	2008
Benign hereditary chorea: clinical, neuroimaging, and genetic findings. Journal of child neurology\| PubMed ID: 17940252	2007
Exploring the functional role of the CHRM2 gene in human cognition: results from a dense genotyping and brain expression study. BMC medical genetics\| PubMed ID: 17996044	2007
Empirical assessment of the validity of the 'fundamental theorem of the HapMap' in the light of 'cryptic' tagging of multiple susceptibility loci. European journal of human genetics : EJHG\| PubMed ID: 18197195	2008
Genome-wide association of major depression: description of samples for the GAIN Major Depressive Disorder Study: NTR and NESDA biobank projects. European journal of human genetics : EJHG\| PubMed ID: 18197199	2008
Genome-wide prediction of functional gene-gene interactions inferred from patterns of genetic differentiation in mice and men. PloS one\| PubMed ID: 18270580	2008
Screening of the epsilon sarcoglycan gene in Tourette syndrome and obsessive compulsive disorder. Psychiatric genetics\| PubMed ID: 18349702	2008
Catechol O-methyl transferase and dopamine D2 receptor gene polymorphisms: evidence of positive heterosis and gene-gene interaction on working memory functioning. European journal of human genetics : EJHG\| PubMed ID: 18382477	2008
Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia. Lancet neurology\| PubMed ID: 18771956	2008
A Functional polymorphism under positive evolutionary selection in ADRB2 is associated with human intelligence with opposite effects in the young and the elderly. Behavior genetics\| PubMed ID: 18855131	2009
Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 18973254	2009
Global similarity with local differences in linkage disequilibrium between the Dutch and HapMap-CEU populations. European journal of human genetics : EJHG\| PubMed ID: 19127282	2009
Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration. Neurobiology of aging\| PubMed ID: 19217189	2009
The role of the brain-derived neurotrophic factor (BDNF) val66met variant in the phenotypic expression of obsessive-compulsive disorder (OCD). American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics\| PubMed ID: 19219856	2009
The role of the COMT Val(158)Met polymorphism in the phenotypic expression of obsessive-compulsive disorder. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics\| PubMed ID: 19521967	2010
Comprehensive mRNA expression profiling distinguishes tauopathies and identifies shared molecular pathways. PloS one\| PubMed ID: 19714246	2009
Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population. PloS one\| PubMed ID: 19847305	2009
Functional gene group analysis reveals a role of synaptic heterotrimeric G proteins in cognitive ability. American journal of human genetics\| PubMed ID: 20060087	2010
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nature genetics\| PubMed ID: 20154673	2010
Translational research in genomics of Alzheimer's disease: a review of current practice and future perspectives. Journal of Alzheimer's disease : JAD\| PubMed ID: 20182048	2010
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. American journal of medical genetics. Part A\| PubMed ID: 20186806	2010
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-con... BMC medical genetics\| PubMed ID: 20637082	2010
From single genes to gene networks: high-throughput-high-content screening for neurological disease. Neuron\| PubMed ID: 20955929	2010
Melanocortin-4 receptor gene mutations in a Dutch cohort of obese children. Obesity (Silver Spring, Md.)\| PubMed ID: 20966905	2011
Genome-wide association study confirms extant PD risk loci among the Dutch. European journal of human genetics : EJHG\| PubMed ID: 21248740	2011
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet\| PubMed ID: 21292315	2011
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. Archives of neurology\| PubMed ID: 21482928	2011
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nature genetics\| PubMed ID: 21685912	2011
The complete automation of cell culture: improvements for high-throughput and high-content screening. Journal of biomolecular screening\| PubMed ID: 21775700	2011
The chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiology of aging\| PubMed ID: 21925771	2012
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron\| PubMed ID: 21944779	2011
Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report. BMC neurology\| PubMed ID: 22023810	2011
Somatic retrotransposition alters the genetic landscape of the human brain. Nature\| PubMed ID: 22037309	2011
Catechol-O-methyltransferase Val158Met and the risk of dyskinesias in Parkinson's disease. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 22083803	2012
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Annals of neurology\| PubMed ID: 22190368	2011
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain : a journal of neurology\| PubMed ID: 22300876	2012
C9orf72; abnormal RNA expression is the key. Experimental neurology\| PubMed ID: 24873727	2014
CAGE-defined promoter regions of the genes implicated in Rett Syndrome. BMC genomics\| PubMed ID: 25539566	2014
Evidence for Immune Response, Axonal Dysfunction and Reduced Endocytosis in the Substantia Nigra in Early Stage Parkinson's Disease. PloS one\| PubMed ID: 26087293	2015
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing. Genome biology\| PubMed ID: 28137300	2017