Anna Castells-Nobau Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour Radboud University Medical Center Biography Publications Institution JoVE Articles Anna Castells-Nobau has not added a biography. If you are Anna Castells-Nobau 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 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 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 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 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
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
