Department of Clinical Genetics
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Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset.
Annals of neurology Feb, 2002 | Pubmed ID: 11835383
A genome-wide search for linkage-disequilibrium with type 1 diabetes in a recent genetically isolated population from the Netherlands.
Diabetes Mar, 2002 | Pubmed ID: 11872691
A double RING-H2 domain in RNF32, a gene expressed during sperm formation.
Biochemical and biophysical research communications Mar, 2002 | Pubmed ID: 11890671
A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease.
Annals of neurology Mar, 2002 | Pubmed ID: 11891833
The hemochromatosis N144H mutation of SLC11A3 gene in patients with type 2 diabetes.
Molecular genetics and metabolism Mar, 2002 | Pubmed ID: 11914044
Association between genetic variation in the gene for insulin-like growth factor-I and low birthweight.
Lancet Mar, 2002 | Pubmed ID: 11937187
Mutations in TITF-1 are associated with benign hereditary chorea.
Human molecular genetics Apr, 2002 | Pubmed ID: 11971878
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 Mar, 2002 | Pubmed ID: 11973619
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 May, 2002 | Pubmed ID: 12032320
Characterization of ZNF333, a novel double KRAB domain containing zinc finger gene on human chromosome 19p13.1.
Biochimica et biophysica acta Aug, 2002 | Pubmed ID: 12151103
Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23.
American journal of medical genetics Sep, 2002 | Pubmed ID: 12210308
Gene finding in genetically isolated populations.
Human molecular genetics Oct, 2002 | Pubmed ID: 12351587
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.
Science (New York, N.Y.) Jan, 2003 | Pubmed ID: 12446870
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].
American journal of human genetics Jan, 2003 | Pubmed ID: 12489043
Disruption of the C7orf2/Lmbr1 genic region is associated with preaxial polydactyly in humans and mice.
Journal of bone and mineral metabolism , 2003 | Pubmed ID: 12491086
Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics.
Blood cells, molecules & diseases Nov-Dec, 2002 | Pubmed ID: 12547233
Tau and neurofilaments in a family with frontotemporal dementia unlinked to chromosome 17q21-22.
Neurobiology of disease Feb, 2003 | Pubmed ID: 12609488
A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34.
European journal of human genetics : EJHG May, 2003 | Pubmed ID: 12734547
CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder.
Genomics Jul, 2003 | Pubmed ID: 12809671
Clinical features and neuroimaging of PARK7-linked parkinsonism.
Movement disorders : official journal of the Movement Disorder Society Jul, 2003 | Pubmed ID: 12815653
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 Jul, 2003 | Pubmed ID: 12815659
Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study.
Brain : a journal of neurology Sep, 2003 | Pubmed ID: 12876142
Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation.
Annals of neurology Aug, 2003 | Pubmed ID: 12891685
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 Aug, 2003 | Pubmed ID: 12910499
The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes.
Human molecular genetics Nov, 2003 | Pubmed ID: 12952867
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 Sep, 2003 | Pubmed ID: 12975285
Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R.
Annals of neurology Nov, 2003 | Pubmed ID: 14595646
An English kindred with a novel recessive tauopathy and respiratory failure.
Annals of neurology Nov, 2003 | Pubmed ID: 14595660
A genome-wide search for genes involved in type 2 diabetes in a recently genetically isolated population from the Netherlands.
Diabetes Dec, 2003 | Pubmed ID: 14633863
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 Nov, 2003 | Pubmed ID: 14639663
DJ-1 colocalizes with tau inclusions: a link between parkinsonism and dementia.
Annals of neurology Jan, 2004 | Pubmed ID: 14705119
Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS.
Annals of neurology Jan, 2004 | Pubmed ID: 14705124
Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's disease.
Journal of molecular medicine (Berlin, Germany) Mar, 2004 | Pubmed ID: 14712351
The PCR suite.
Bioinformatics (Oxford, England) Mar, 2004 | Pubmed ID: 14751986
Chasing genes in Alzheimer's and Parkinson's disease.
Human genetics Apr, 2004 | Pubmed ID: 14999561
Linkage disequilibrium in young genetically isolated Dutch population.
European journal of human genetics : EJHG Jul, 2004 | Pubmed ID: 15054401
Phenotypic variation in frontotemporal dementia and parkinsonism linked to chromosome 17.
Dementia and geriatric cognitive disorders , 2004 | Pubmed ID: 15178932
Novel parkin mutations detected in patients with early-onset Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society Apr, 2005 | Pubmed ID: 15584030
Genetics of dizygotic twinning: a feasibility study for a biobank.
Twin research : the official journal of the International Society for Twin Studies Dec, 2004 | Pubmed ID: 15607005
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.
Science (New York, N.Y.) May, 2005 | Pubmed ID: 15905400
Drosophila DJ-1 mutants are selectively sensitive to environmental toxins associated with Parkinson's disease.
Current biology : CB Sep, 2005 | Pubmed ID: 16139213
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 Mar, 2006 | Pubmed ID: 16211615
Evidence for novel loci for late-onset Parkinson's disease in a genetic isolate from the Netherlands.
Human genetics Mar, 2006 | Pubmed ID: 16369765
Neonatal porencephaly and adult stroke related to mutations in collagen IV A1.
Annals of neurology Mar, 2006 | Pubmed ID: 16374828
Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies.
Nature genetics May, 2006 | Pubmed ID: 16582909
Role of COL4A1 in small-vessel disease and hemorrhagic stroke.
The New England journal of medicine Apr, 2006 | Pubmed ID: 16598045
Transthyretin: no association between serum levels or gene variants and schizophrenia.
Journal of psychiatric research Oct, 2007 | Pubmed ID: 16716350
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 Jul, 2006 | Pubmed ID: 16731528
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 Dec, 2006 | Pubmed ID: 16941655
Intrapair differences in hippocampal volume in monozygotic twins discordant for the risk for anxiety and depression.
Biological psychiatry May, 2007 | Pubmed ID: 17137562
Association of the gene encoding neurogranin with schizophrenia in males.
Journal of psychiatric research Jan, 2008 | Pubmed ID: 17140601
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 Jan, 2007 | Pubmed ID: 17195733
The DeltaK280 mutation in MAP tau favors exon 10 skipping in vivo.
Journal of neuropathology and experimental neurology Jan, 2007 | Pubmed ID: 17204933
The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence.
Human molecular genetics Mar, 2007 | Pubmed ID: 17220170
Progranulin mutations in Dutch familial frontotemporal lobar degeneration.
European journal of human genetics : EJHG Mar, 2007 | Pubmed ID: 17228326
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 Jul, 2007 | Pubmed ID: 17230501
A longitudinal twin study on IQ, executive functioning, and attention problems during childhood and early adolescence.
Acta neurologica Belgica Dec, 2006 | Pubmed ID: 17323837
A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population.
American journal of human genetics Jul, 2007 | Pubmed ID: 17564960
A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.
Human genetics Jan, 2008 | Pubmed ID: 17938964
Benign hereditary chorea: clinical, neuroimaging, and genetic findings.
Journal of child neurology Oct, 2007 | Pubmed ID: 17940252
Exploring the functional role of the CHRM2 gene in human cognition: results from a dense genotyping and brain expression study.
BMC medical genetics , 2007 | Pubmed ID: 17996044
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 Apr, 2008 | Pubmed ID: 18197195
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 Mar, 2008 | Pubmed ID: 18197199
Genome-wide prediction of functional gene-gene interactions inferred from patterns of genetic differentiation in mice and men.
PloS one , 2008 | Pubmed ID: 18270580
Screening of the epsilon sarcoglycan gene in Tourette syndrome and obsessive compulsive disorder.
Psychiatric genetics Apr, 2008 | Pubmed ID: 18349702
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 Sep, 2008 | Pubmed ID: 18382477
Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia.
Lancet neurology Oct, 2008 | Pubmed ID: 18771956
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 Jan, 2009 | Pubmed ID: 18855131
Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society Jan, 2009 | Pubmed ID: 18973254
Global similarity with local differences in linkage disequilibrium between the Dutch and HapMap-CEU populations.
European journal of human genetics : EJHG Jun, 2009 | Pubmed ID: 19127282
Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration.
Neurobiology of aging Apr, 2009 | Pubmed ID: 19217189
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 Dec, 2009 | Pubmed ID: 19219856
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 Jan, 2010 | Pubmed ID: 19521967
Comprehensive mRNA expression profiling distinguishes tauopathies and identifies shared molecular pathways.
PloS one , 2009 | Pubmed ID: 19714246
Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population.
PloS one , 2009 | Pubmed ID: 19847305
Functional gene group analysis reveals a role of synaptic heterotrimeric G proteins in cognitive ability.
American journal of human genetics Feb, 2010 | Pubmed ID: 20060087
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.
Nature genetics Mar, 2010 | Pubmed ID: 20154673
Translational research in genomics of Alzheimer's disease: a review of current practice and future perspectives.
Journal of Alzheimer's disease : JAD , 2010 | Pubmed ID: 20182048
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 Mar, 2010 | Pubmed ID: 20186806
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.
BMC medical genetics , 2010 | Pubmed ID: 20637082
From single genes to gene networks: high-throughput-high-content screening for neurological disease.
Neuron Oct, 2010 | Pubmed ID: 20955929
Melanocortin-4 receptor gene mutations in a Dutch cohort of obese children.
Obesity (Silver Spring, Md.) Mar, 2011 | Pubmed ID: 20966905
Genome-wide association study confirms extant PD risk loci among the Dutch.
European journal of human genetics : EJHG Jun, 2011 | Pubmed ID: 21248740
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
Lancet Feb, 2011 | Pubmed ID: 21292315
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.
Archives of neurology Apr, 2011 | Pubmed ID: 21482928
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
Nature genetics Jul, 2011 | Pubmed ID: 21685912
The complete automation of cell culture: improvements for high-throughput and high-content screening.
Journal of biomolecular screening Sep, 2011 | Pubmed ID: 21775700
The chromosome 9 ALS and FTD locus is probably derived from a single founder.
Neurobiology of aging Jan, 2012 | Pubmed ID: 21925771
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
Neuron Oct, 2011 | Pubmed ID: 21944779
Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report.
BMC neurology , 2011 | Pubmed ID: 22023810
Somatic retrotransposition alters the genetic landscape of the human brain.
Nature Nov, 2011 | Pubmed ID: 22037309
Catechol-O-methyltransferase Val158Met and the risk of dyskinesias in Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society Jan, 2012 | Pubmed ID: 22083803
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis.
Annals of neurology Dec, 2011 | Pubmed ID: 22190368
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.
Brain : a journal of neurology Feb, 2012 | Pubmed ID: 22300876
C9orf72; abnormal RNA expression is the key.
Experimental neurology Dec, 2014 | Pubmed ID: 24873727
CAGE-defined promoter regions of the genes implicated in Rett Syndrome.
BMC genomics Dec, 2014 | Pubmed ID: 25539566
Evidence for Immune Response, Axonal Dysfunction and Reduced Endocytosis in the Substantia Nigra in Early Stage Parkinson's Disease.
PloS one , 2015 | Pubmed ID: 26087293
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.
Genome biology 01, 2017 | Pubmed ID: 28137300
Ashutosh Dhingra*,1,
Joachim Täger*,1,
Elisangela Bressan*,1,
Salvador Rodriguez-Nieto1,
Manmeet-Sakshi Bedi1,
Stefanie Bröer1,
Eldem Sadikoglou1,
Noémia Fernandes2,
Melissa Castillo-Lizardo1,
Patrizia Rizzu2,
Peter Heutink1,3
1Genome Biology of Neurodegenerative Diseases, German Center for Neurodegenerative Diseases (DZNE),
2Applied Genomics for Neurodegenerative Diseases, German Center for Neurodegenerative Diseases (DZNE),
3Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen
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