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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
Anna Castells-Nobau has not added Biography.
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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
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
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
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
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
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
Nature genetics Apr, 2017 | Pubmed ID: 28191889
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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