Peter Heutink Genome Biology of Neurodegenerative Diseases German Center for Neurodegenerative Diseases (DZNE) Biography Publications Institution JoVE Articles Peter Heutink has not added a biography. If you are Peter Heutink and would like to personalize this page please email our Author Liaison for assistance. Publications Discovery and Functional Prioritization of Parkinson's Disease Candidate Genes from Large-scale Whole Exome Sequencing Genome Biology. 01, 2017 | Pubmed ID: 28137300 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 CAGE-defined Promoter Regions of the Genes Implicated in Rett Syndrome BMC Genomics. Dec, 2014 | Pubmed ID: 25539566 C9orf72; Abnormal RNA Expression is the Key Experimental Neurology. Dec, 2014 | Pubmed ID: 24873727 The Clinical and Pathological Phenotype of C9ORF72 Hexanucleotide Repeat Expansions Brain : a Journal of Neurology. Feb, 2012 | Pubmed ID: 22300876 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 The Chromosome 9 ALS and FTD Locus is Probably Derived from a Single Founder Neurobiology of Aging. Jan, 2012 | Pubmed ID: 21925771 Angiogenin Variants in Parkinson Disease and Amyotrophic Lateral Sclerosis Annals of Neurology. Dec, 2011 | Pubmed ID: 22190368 Somatic Retrotransposition Alters the Genetic Landscape of the Human Brain Nature. Nov, 2011 | Pubmed ID: 22037309 Parkinsonian Phenotype in Machado-Joseph Disease (MJD/SCA3): a Two-case Report BMC Neurology. 2011 | Pubmed ID: 22023810 A Hexanucleotide Repeat Expansion in C9ORF72 is the Cause of Chromosome 9p21-linked ALS-FTD Neuron. Oct, 2011 | Pubmed ID: 21944779 The Complete Automation of Cell Culture: Improvements for High-throughput and High-content Screening Journal of Biomolecular Screening. Sep, 2011 | Pubmed ID: 21775700 Identification of Common Variants Influencing Risk of the Tauopathy Progressive Supranuclear Palsy Nature Genetics. Jul, 2011 | Pubmed ID: 21685912 Genetic and Clinical Features of Progranulin-associated Frontotemporal Lobar Degeneration Archives of Neurology. Apr, 2011 | Pubmed ID: 21482928 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 Genome-wide Association Study Confirms Extant PD Risk Loci Among the Dutch European Journal of Human Genetics : EJHG. Jun, 2011 | Pubmed ID: 21248740 Melanocortin-4 Receptor Gene Mutations in a Dutch Cohort of Obese Children Obesity (Silver Spring, Md.). Mar, 2011 | Pubmed ID: 20966905 From Single Genes to Gene Networks: High-throughput-high-content Screening for Neurological Disease Neuron. Oct, 2010 | Pubmed ID: 20955929 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 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 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 Common Variants at 7p21 Are Associated with Frontotemporal Lobar Degeneration with TDP-43 Inclusions Nature Genetics. Mar, 2010 | Pubmed ID: 20154673 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 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 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 Comprehensive MRNA Expression Profiling Distinguishes Tauopathies and Identifies Shared Molecular Pathways PloS One. 2009 | Pubmed ID: 19714246 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 Ubiquitin Associated Protein 1 is a Risk Factor for Frontotemporal Lobar Degeneration Neurobiology of Aging. Apr, 2009 | Pubmed ID: 19217189 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 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 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 Mutations in Progranulin (GRN) Within the Spectrum of Clinical and Pathological Phenotypes of Frontotemporal Dementia Lancet Neurology. Oct, 2008 | Pubmed ID: 18771956 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 Screening of the Epsilon Sarcoglycan Gene in Tourette Syndrome and Obsessive Compulsive Disorder Psychiatric Genetics. Apr, 2008 | Pubmed ID: 18349702 Genome-wide Prediction of Functional Gene-gene Interactions Inferred from Patterns of Genetic Differentiation in Mice and Men PloS One. 2008 | Pubmed ID: 18270580 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 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 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 Association of the Gene Encoding Neurogranin with Schizophrenia in Males Journal of Psychiatric Research. Jan, 2008 | Pubmed ID: 17140601 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 Benign Hereditary Chorea: Clinical, Neuroimaging, and Genetic Findings Journal of Child Neurology. Oct, 2007 | Pubmed ID: 17940252 A Genomewide Screen for Late-onset Alzheimer Disease in a Genetically Isolated Dutch Population American Journal of Human Genetics. Jul, 2007 | Pubmed ID: 17564960 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 Progranulin Mutations in Dutch Familial Frontotemporal Lobar Degeneration European Journal of Human Genetics : EJHG. Mar, 2007 | Pubmed ID: 17228326 The Ongoing Adaptive Evolution of ASPM and Microcephalin is Not Explained by Increased Intelligence Human Molecular Genetics. Mar, 2007 | Pubmed ID: 17220170 The DeltaK280 Mutation in MAP Tau Favors Exon 10 Skipping in Vivo Journal of Neuropathology and Experimental Neurology. Jan, 2007 | Pubmed ID: 17204933 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 Intrapair Differences in Hippocampal Volume in Monozygotic Twins Discordant for the Risk for Anxiety and Depression Biological Psychiatry. May, 2007 | Pubmed ID: 17137562 Transthyretin: No Association Between Serum Levels or Gene Variants and Schizophrenia Journal of Psychiatric Research. Oct, 2007 | Pubmed ID: 16716350 A Longitudinal Twin Study on IQ, Executive Functioning, and Attention Problems During Childhood and Early Adolescence Acta Neurologica Belgica. Dec, 2006 | Pubmed ID: 17323837 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 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 Role of COL4A1 in Small-vessel Disease and Hemorrhagic Stroke The New England Journal of Medicine. Apr, 2006 | Pubmed ID: 16598045 Magnitude and Distribution of Linkage Disequilibrium in Population Isolates and Implications for Genome-wide Association Studies Nature Genetics. May, 2006 | Pubmed ID: 16582909 Neonatal Porencephaly and Adult Stroke Related to Mutations in Collagen IV A1 Annals of Neurology. Mar, 2006 | Pubmed ID: 16374828 Evidence for Novel Loci for Late-onset Parkinson's Disease in a Genetic Isolate from the Netherlands Human Genetics. Mar, 2006 | Pubmed ID: 16369765 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 Drosophila DJ-1 Mutants Are Selectively Sensitive to Environmental Toxins Associated with Parkinson's Disease Current Biology : CB. Sep, 2005 | Pubmed ID: 16139213 Mutations in Col4a1 Cause Perinatal Cerebral Hemorrhage and Porencephaly Science (New York, N.Y.). May, 2005 | Pubmed ID: 15905400 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 Phenotypic Variation in Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17 Dementia and Geriatric Cognitive Disorders. 2004 | Pubmed ID: 15178932 Linkage Disequilibrium in Young Genetically Isolated Dutch Population European Journal of Human Genetics : EJHG. Jul, 2004 | Pubmed ID: 15054401 Chasing Genes in Alzheimer's and Parkinson's Disease Human Genetics. Apr, 2004 | Pubmed ID: 14999561 The PCR Suite Bioinformatics (Oxford, England). Mar, 2004 | Pubmed ID: 14751986 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 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 DJ-1 Colocalizes with Tau Inclusions: a Link Between Parkinsonism and Dementia Annals of Neurology. Jan, 2004 | Pubmed ID: 14705119 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 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 An English Kindred with a Novel Recessive Tauopathy and Respiratory Failure Annals of Neurology. Nov, 2003 | Pubmed ID: 14595660 Variable Phenotypic Expression and Extensive Tau Pathology in Two Families with the Novel Tau Mutation L315R Annals of Neurology. Nov, 2003 | Pubmed ID: 14595646 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 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 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 Early-onset Parkinson's Disease Caused by a Compound Heterozygous DJ-1 Mutation Annals of Neurology. Aug, 2003 | Pubmed ID: 12891685 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 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 Clinical Features and Neuroimaging of PARK7-linked Parkinsonism Movement Disorders : Official Journal of the Movement Disorder Society. Jul, 2003 | Pubmed ID: 12815653 CNTNAP2 is Disrupted in a Family with Gilles De La Tourette Syndrome and Obsessive Compulsive Disorder Genomics. Jul, 2003 | Pubmed ID: 12809671 A New Locus for Postaxial Polydactyly Type A/B on Chromosome 7q21-q34 European Journal of Human Genetics : EJHG. May, 2003 | Pubmed ID: 12734547 Tau and Neurofilaments in a Family with Frontotemporal Dementia Unlinked to Chromosome 17q21-22 Neurobiology of Disease. Feb, 2003 | Pubmed ID: 12609488 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 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 Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-onset Parkinsonism Science (New York, N.Y.). Jan, 2003 | Pubmed ID: 12446870 Dominant Hemochromatosis Due to N144H Mutation of SLC11A3: Clinical and Biological Characteristics Blood Cells, Molecules & Diseases. Nov-Dec, 2002 | Pubmed ID: 12547233 Gene Finding in Genetically Isolated Populations Human Molecular Genetics. Oct, 2002 | Pubmed ID: 12351587 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 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 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 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 Mutations in TITF-1 Are Associated with Benign Hereditary Chorea Human Molecular Genetics. Apr, 2002 | Pubmed ID: 11971878 Association Between Genetic Variation in the Gene for Insulin-like Growth Factor-I and Low Birthweight Lancet. Mar, 2002 | Pubmed ID: 11937187 The Hemochromatosis N144H Mutation of SLC11A3 Gene in Patients with Type 2 Diabetes Molecular Genetics and Metabolism. Mar, 2002 | Pubmed ID: 11914044 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 A Double RING-H2 Domain in RNF32, a Gene Expressed During Sperm Formation Biochemical and Biophysical Research Communications. Mar, 2002 | Pubmed ID: 11890671 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 Localization of Autosomal Recessive Early-onset Parkinsonism to Chromosome 1p36 (PARK7) in an Independent Dataset Annals of Neurology. Feb, 2002 | Pubmed ID: 11835383 Geautomatiseerde productie van menselijke geïnduceerde pluripotente stamcel-afgeleide corticale en dopaminerge neuronen met geïntegreerde live-cel monitoring 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 JoVE 61525 Biologia Hoog gehalte Screening bij neurodegeneratieve ziekten Shushant Jain1, Ronald E. van Kesteren2, Peter Heutink1 1Department of Clinical Genetics, VU University Medical Center, 2Center for Neurogenomics and Cognitive Research, Neuroscience Campus Amsterdam JoVE 3452 Medicina
Geautomatiseerde productie van menselijke geïnduceerde pluripotente stamcel-afgeleide corticale en dopaminerge neuronen met geïntegreerde live-cel monitoring 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 JoVE 61525 Biologia
Hoog gehalte Screening bij neurodegeneratieve ziekten Shushant Jain1, Ronald E. van Kesteren2, Peter Heutink1 1Department of Clinical Genetics, VU University Medical Center, 2Center for Neurogenomics and Cognitive Research, Neuroscience Campus Amsterdam JoVE 3452 Medicina