Bonnie Nijhof Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour Radboud University Medical Center Biography Publications Institution JoVE Articles Bonnie Nijhof has not added a biography. If you are Bonnie Nijhof and would like to personalize this page please email our Author Liaison for assistance. Publications 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 Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules American Journal of Human Genetics. Jan, 2016 | Pubmed ID: 26748517 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 Age-related Decreased Inhibitory Vs. Excitatory Gene Expression in the Adult Autistic Brain Frontiers in Neuroscience. 2014 | Pubmed ID: 25538548 Drosophila Models of Early Onset Cognitive Disorders and Their Clinical Applications Neuroscience and Biobehavioral Reviews. Oct, 2014 | Pubmed ID: 24661984 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 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 Dos algoritmos para de alto rendimiento y multi-paramétrico Cuantificación 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 신경과학
Dos algoritmos para de alto rendimiento y multi-paramétrico Cuantificación 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 신경과학