Annette Schenck Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour Radboud University Medical Center Biography Publications Institution JoVE Articles Annette Schenck has not added a biography. If you are Annette Schenck and would like to personalize this page please email our Author Liaison for assistance. Publications Targeted Sequencing Identifies 91 Neurodevelopmental-disorder Risk Genes with Autism and Developmental-disability Biases Nature Genetics. Apr, 2017 | Pubmed ID: 28191889 A Homozygous FITM2 Mutation Causes a Deafness-dystonia Syndrome with Motor Regression and Signs of Ichthyosis and Sensory Neuropathy Disease Models & Mechanisms. Feb, 2017 | Pubmed ID: 28067622 BOD1 Is Required for Cognitive Function in Humans and Drosophila PLoS Genetics. May, 2016 | Pubmed ID: 27166630 A New Fiji-Based Algorithm That Systematically Quantifies Nine Synaptic Parameters Provides Insights into Drosophila NMJ Morphometry PLoS Computational Biology. Mar, 2016 | Pubmed ID: 26998933 Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders American Journal of Human Genetics. Mar, 2016 | Pubmed ID: 26942287 De Novo Loss-of-function Mutations in WAC Cause a Recognizable Intellectual Disability Syndrome and Learning Deficits in Drosophila European Journal of Human Genetics : EJHG. Aug, 2016 | Pubmed ID: 26757981 Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules American Journal of Human Genetics. Jan, 2016 | Pubmed ID: 26748517 Conditional Depletion of Intellectual Disability and Parkinsonism Candidate Gene ATP6AP2 in Fly and Mouse Induces Cognitive Impairment and Neurodegeneration Human Molecular Genetics. Dec, 2015 | Pubmed ID: 26376863 Converging Evidence Does Not Support GIT1 As an ADHD Risk Gene American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. Sep, 2015 | Pubmed ID: 26061966 The Epigenetic Regulator G9a Mediates Tolerance to RNA Virus Infection in Drosophila PLoS Pathogens. Apr, 2015 | Pubmed ID: 25880195 Mitochondrial Diseases: Drosophila Melanogaster As a Model to Evaluate Potential Therapeutics The International Journal of Biochemistry & Cell Biology. Jun, 2015 | Pubmed ID: 25666557 Altered GPM6A/M6 Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human and Drosophila Human Mutation. Dec, 2014 | Pubmed ID: 25224183 Genome Sequencing Identifies Major Causes of Severe Intellectual Disability Nature. Jul, 2014 | Pubmed ID: 24896178 Drosophila Models of Early Onset Cognitive Disorders and Their Clinical Applications Neuroscience and Biobehavioral Reviews. Oct, 2014 | Pubmed ID: 24661984 The Genetics of Cognitive Epigenetics Neuropharmacology. May, 2014 | Pubmed ID: 24434855 Ubiquitin Ligase HUWE1 Regulates Axon Branching Through the Wnt/β-catenin Pathway in a Drosophila Model for Intellectual Disability PloS One. 2013 | Pubmed ID: 24303071 Human Intellectual Disability Genes Form Conserved Functional Modules in Drosophila PLoS Genetics. Oct, 2013 | Pubmed ID: 24204314 Restoring Polyamines Protects from Age-induced Memory Impairment in an Autophagy-dependent Manner Nature Neuroscience. Oct, 2013 | Pubmed ID: 23995066 GATAD2B Loss-of-function Mutations Cause a Recognisable Syndrome with Intellectual Disability and Are Associated with Learning Deficits and Synaptic Undergrowth in Drosophila Journal of Medical Genetics. Aug, 2013 | Pubmed ID: 23644463 CEP89 is Required for Mitochondrial Metabolism and Neuronal Function in Man and Fly Human Molecular Genetics. Aug, 2013 | Pubmed ID: 23575228 Homozygous and Heterozygous Disruptions of ANK3: at the Crossroads of Neurodevelopmental and Psychiatric Disorders Human Molecular Genetics. May, 2013 | Pubmed ID: 23390136 Mutations in DDHD2, Encoding an Intracellular Phospholipase A(1), Cause a Recessive Form of Complex Hereditary Spastic Paraplegia American Journal of Human Genetics. Dec, 2012 | Pubmed ID: 23176823 Range of Genetic Mutations Associated with Severe Non-syndromic Sporadic Intellectual Disability: an Exome Sequencing Study Lancet (London, England). Nov, 2012 | Pubmed ID: 23020937 Disruption of an EHMT1-associated Chromatin-modification Module Causes Intellectual Disability American Journal of Human Genetics. Jul, 2012 | Pubmed ID: 22726846 Analysis of Adhesion Molecules and Basement Membrane Contributions to Synaptic Adhesion at the Drosophila Embryonic NMJ PloS One. 2012 | Pubmed ID: 22558441 Mutations in the Chromatin Modifier Gene KANSL1 Cause the 17q21.31 Microdeletion Syndrome Nature Genetics. Apr, 2012 | Pubmed ID: 22544363 CYFIP Dependent Actin Remodeling Controls Specific Aspects of Drosophila Eye Morphogenesis Developmental Biology. Nov, 2011 | Pubmed ID: 21884694 Epigenetic Regulation of Learning and Memory by Drosophila EHMT/G9a PLoS Biology. 2011 | Pubmed ID: 21245904 CDK19 is Disrupted in a Female Patient with Bilateral Congenital Retinal Folds, Microcephaly and Mild Mental Retardation Human Genetics. Sep, 2010 | Pubmed ID: 20563892 Protein Complexes Containing CYFIP/Sra/PIR121 Coordinate Arf1 and Rac1 Signalling During Clathrin-AP-1-coated Carrier Biogenesis at the TGN Nature Cell Biology. Apr, 2010 | Pubmed ID: 20228810 CNTNAP2 and NRXN1 Are Mutated in Autosomal-recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila American Journal of Human Genetics. Nov, 2009 | Pubmed ID: 19896112 SLC29A3 Gene is Mutated in Pigmented Hypertrichosis with Insulin-dependent Diabetes Mellitus Syndrome and Interacts with the Insulin Signaling Pathway Human Molecular Genetics. Jun, 2009 | Pubmed ID: 19336477 The Endosomal Protein Appl1 Mediates Akt Substrate Specificity and Cell Survival in Vertebrate Development Cell. May, 2008 | Pubmed ID: 18455989 HSPC300 and Its Role in Neuronal Connectivity Neural Development. 2007 | Pubmed ID: 17894861 Phosphorylation of WAVE1 Regulates Actin Polymerization and Dendritic Spine Morphology Nature. Aug, 2006 | Pubmed ID: 16862120 FMRP Interferes with the Rac1 Pathway and Controls Actin Cytoskeleton Dynamics in Murine Fibroblasts Human Molecular Genetics. Mar, 2005 | Pubmed ID: 15703194 WAVE/SCAR, a Multifunctional Complex Coordinating Different Aspects of Neuronal Connectivity Developmental Biology. Oct, 2004 | Pubmed ID: 15385157 CYFIP2 is Highly Abundant in CD4+ Cells from Multiple Sclerosis Patients and is Involved in T Cell Adhesion European Journal of Immunology. Apr, 2004 | Pubmed ID: 15048733 NUFIP1 (nuclear FMRP Interacting Protein 1) is a Nucleocytoplasmic Shuttling Protein Associated with Active Synaptoneurosomes Experimental Cell Research. Sep, 2003 | Pubmed ID: 12941608 82-FIP, a Novel FMRP (fragile X Mental Retardation Protein) Interacting Protein, Shows a Cell Cycle-dependent Intracellular Localization Human Molecular Genetics. Jul, 2003 | Pubmed ID: 12837692 CYFIP/Sra-1 Controls Neuronal Connectivity in Drosophila and Links the Rac1 GTPase Pathway to the Fragile X Protein Neuron. Jun, 2003 | Pubmed ID: 12818175 Transcriptional Regulation of Glial Cell Specification Developmental Biology. Mar, 2003 | Pubmed ID: 12618139 Novel Features of DFMR1, the Drosophila Orthologue of the Fragile X Mental Retardation Protein Neurobiology of Disease. Oct, 2002 | Pubmed ID: 12460546 Análise do elevado-throughput de comportamento Locomotor no ensaio de ilha de Drosophila Ilse Eidhof*1, Michaela Fenckova*1, Dei M. Elurbe2, Bart van de Warrenburg3, Anna Castells Nobau*1, Annette Schenck*1 1Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 2Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 3Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center JoVE 55892 Neuroscience Drosophila Courtship Acondicionamento Como Medida de Aprendizagem e Memória Tom S. Koemans1,2,3, Cornelia Oppitz4, Rogier A. T. Donders5, Hans van Bokhoven1,3, Annette Schenck1,3, Krystyna Keleman6, Jamie M. Kramer7,8 1Department of Human Genetics, Radboud University Medical Center, 2Radboud Institute of Molecular Life Sciences, Radboud University, 3Donders Institute for Brain, Cognition, and Behaviour, Centre for Neuroscience, Radboud University, 4Research Institute of Molecular Pathology, Vienna, Austria, 5Department for Health Evidence, Radboud University Medical Center, 6Janelia Research Campus, Howard Hughes Medical Institute, 7Department of Physiology and Pharmacology, Schulich School of Medicine and Dentistry, Western University, 8Department of Biology, Faculty of Science, Western University JoVE 55808 Neuroscience Dois Algoritmos para métodos de alta capacidade e Multi-paramétrico Quantificação de Anna Castells-Nobau*1, Bonnie Nijhof*1, Ilse Eidhof1, Louis Wolf2, Jolanda M. Scheffer-de Gooyert1, Ignacio Monedero3,4, Laura Torroja3, Jeroen A.W.M. van der Laak2,5, Annette Schenck*1 1Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 2Microscopical Imaging Centre (MIC), Radboud University Medical Center, 3Department of Biology, Universidad Autónoma de Madrid, 4Department of Clinical and Experimental Medicine, Linköping University, 5Department of Pathology, Radboud University Medical Center JoVE 55395 Neuroscience
Análise do elevado-throughput de comportamento Locomotor no ensaio de ilha de Drosophila Ilse Eidhof*1, Michaela Fenckova*1, Dei M. Elurbe2, Bart van de Warrenburg3, Anna Castells Nobau*1, Annette Schenck*1 1Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 2Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 3Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center JoVE 55892 Neuroscience
Drosophila Courtship Acondicionamento Como Medida de Aprendizagem e Memória Tom S. Koemans1,2,3, Cornelia Oppitz4, Rogier A. T. Donders5, Hans van Bokhoven1,3, Annette Schenck1,3, Krystyna Keleman6, Jamie M. Kramer7,8 1Department of Human Genetics, Radboud University Medical Center, 2Radboud Institute of Molecular Life Sciences, Radboud University, 3Donders Institute for Brain, Cognition, and Behaviour, Centre for Neuroscience, Radboud University, 4Research Institute of Molecular Pathology, Vienna, Austria, 5Department for Health Evidence, Radboud University Medical Center, 6Janelia Research Campus, Howard Hughes Medical Institute, 7Department of Physiology and Pharmacology, Schulich School of Medicine and Dentistry, Western University, 8Department of Biology, Faculty of Science, Western University JoVE 55808 Neuroscience
Dois Algoritmos para métodos de alta capacidade e Multi-paramétrico Quantificação de Anna Castells-Nobau*1, Bonnie Nijhof*1, Ilse Eidhof1, Louis Wolf2, Jolanda M. Scheffer-de Gooyert1, Ignacio Monedero3,4, Laura Torroja3, Jeroen A.W.M. van der Laak2,5, Annette Schenck*1 1Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 2Microscopical Imaging Centre (MIC), Radboud University Medical Center, 3Department of Biology, Universidad Autónoma de Madrid, 4Department of Clinical and Experimental Medicine, Linköping University, 5Department of Pathology, Radboud University Medical Center JoVE 55395 Neuroscience
