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Department of Human Genetics,
Donders Institute for Brain,
Cognition and Behaviour,
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour
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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
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.
Human molecular genetics May, 2013 | Pubmed ID: 23390136
CEP89 is required for mitochondrial metabolism and neuronal function in man and fly.
Human molecular genetics Aug, 2013 | Pubmed ID: 23575228
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
Human intellectual disability genes form conserved functional modules in Drosophila.
PLoS genetics Oct, 2013 | Pubmed ID: 24204314
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
Drosophila models of early onset cognitive disorders and their clinical applications.
Neuroscience and biobehavioral reviews Oct, 2014 | Pubmed ID: 24661984
Age-related decreased inhibitory vs. excitatory gene expression in the adult autistic brain.
Frontiers in neuroscience , 2014 | Pubmed ID: 25538548
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
Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules.
American journal of human genetics Jan, 2016 | Pubmed ID: 26748517
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
BOD1 Is Required for Cognitive Function in Humans and Drosophila.
PLoS genetics May, 2016 | Pubmed ID: 27166630
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
Radboud university medical center
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
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