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JCI Insight|August 9, 2021
Antisense oligonucleotide treatment rescues UBE3A expression and multiple phenotypes of an Angelman syndrome mouse modelClaudia Milazzo, Edwin J Mientjes, Ilse Wallaard, et al.
Scientific Reports|February 5, 2021
Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative functionRossella Avagliano Trezza, A Mattijs Punt, Edwin Mientjes, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|August 22, 2014
Temporal and region-specific requirements of αCaMKII in spatial and contextual learningKatharina G Achterberg, Gabriëlle H S Buitendijk, Martijn J Kool, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 5, 2020
Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1Myrthe J Ottenhoff, André B Rietman, Sabine E Mous, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|October 15, 2010
Intrinsic plasticity complements long-term potentiation in parallel fiber input gain control in cerebellar Purkinje cellsAmor Belmeguenai, Eric Hosy, Fredrik Bengtsson, et al.
European Journal of Human Genetics : EJHG|October 11, 2023
A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndromeMadiha Amin Malik, Muhammad Arif Nadeem Saqib, Edwin Mientjes, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|September 2, 2011
Accelerated age-related cognitive decline and neurodegeneration, caused by deficient DNA repairNils Z Borgesius, Monique C de Waard, Ingrid van der Pluijm, et al.
Scientific Reports|September 29, 2015
PAK2 is an effector of TSC1/2 signaling independent of mTOR and a potential therapeutic target for Tuberous Sclerosis ComplexMaria M Alves, Gwenny M Fuhler, Karla C S Queiroz, et al.
Acta Neuropathologica|July 6, 2010
Age-related motor neuron degeneration in DNA repair-deficient Ercc1 miceMonique C de Waard, Ingrid van der Pluijm, Nils Zuiderveen Borgesius, et al.
JCI Insight|October 22, 2021
Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model miceMatthew C Judson, Charles Shyng, Jeremy M Simon, et al.
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