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European Journal of Pediatrics|October 13, 2023
Bone health in children with Angelman syndrome at the ENCORE Expertise CenterKaren G C B Bindels-de Heus, Doesjka A Hagenaar, Sabine E Mous, et al.
Neuron|March 30, 2016
GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure SusceptibilityMatthew C Judson, Michael L Wallace, Michael S Sidorov, et al.
Neurology|August 12, 2016
Sirolimus for epilepsy in children with tuberous sclerosis complex: A randomized controlled trialIris E Overwater, André B Rietman, Karen Bindels-de Heus, et al.
Human Mutation|November 7, 2019
Netrin-G2 dysfunction causes a Rett-like phenotype with areflexiaGali Heimer, Geeske M van Woerden, Ortal Barel, et al.
Neurology|June 21, 2019
A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complexIris E Overwater, André B Rietman, Sabine E Mous, et al.
The Lancet. Neurology|October 5, 2013
Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trialThijs van der Vaart, Ellen Plasschaert, André B Rietman, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|May 9, 2019
CAMK2-Dependent Signaling in Neurons Is Essential for SurvivalMartijn J Kool, Martina Proietti Onori, Nils Z Borgesius, et al.
American Journal of Medical Genetics. Part A|March 26, 2019
From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and SchwannomatosisRosalie E Ferner, Annette Bakker, Ype Elgersma, et al.
Developmental Medicine and Child Neurology|September 28, 2024
Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase II randomized placebo-controlled trialMyrthe J Ottenhoff, Sabine E Mous, Jesminne Castricum, et al.
Human Mutation|September 6, 2018
The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-functionMartina Proietti Onori, Balwina Koopal, David B Everman, et al.
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