2021
121. miR-142-3p Regulates Cortical Oligodendrocyte Gene Co-expression Networks Associated with Tauopathy.
Hinman JD, Ngo KJ, Kim D, Chen C, Abraham CR, Ghanbari M, Ikram MA, Kushner SA, Kawaguchi R, Coppola G, Goth K, Bellusci S, Hernandez I, Kosik KS, Fogel BL
in Human molecular genetics 2021
122. Monogenic Causes of Apparently Idiopathic Perinatal Intracranial Hemorrhage.
Hausman-Kedem M, Malinger G, Modai S, Kushner SA, Shiran SI, Ben-Sira L, Roth J, Constantini S, Fattal-Valevski A, Ben-Shachar S
in Annals of neurology 2021
123. Peer-reported bullying, rejection and hallucinatory experiences in childhood.
Steenkamp LR, Tiemeier H, Bolhuis K, Hillegers MHJ, Kushner SA, Blanken LME
in Acta psychiatrica Scandinavica 2021
124. Unlike dietary restriction, rapamycin fails to extend lifespan and reduce transcription stress in progeroid DNA repair-deficient mice.
Birkisdóttir MB, Jaarsma D, Brandt RMC, Barnhoorn S, van Vliet N, Imholz S, van Oostrom CT, Nagarajah B, Portilla Fernández E, Roks AJM, Elgersma Y, van Steeg H, Ferreira JA, Pennings JLA, Hoeijmakers JHJ, Vermeij WP, Dollé MET
in Aging cell 2021
125. The use of eye-movement recording in patients with anti-Hu antibody-associated paraneoplastic neurological syndromes to objectively determine extent and course of disease.
in European journal of neurology 2021
126. To Explore the Predictive Power of Visuomotor Network Dysfunctions in Mild Cognitive Impairment and Alzheimer's Disease.
127. Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations.
in Human molecular genetics 2021
128. TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
van Woerden GM, Bos M, de Konink C, Distel B, Trezza RA, Shur NE, Barañano K, Mahida S, Chassevent A, Schreiber A, Erwin AL, Gripp KW, Rehman F, Brulleman S, Mc Cormack R, de Geus G, Kalsner L, Sorlin A, Bruel AL, Koolen DA, Gabriel MK, Rossi M, Fitzpatrick DR, Wilkie AOM, Calpena E, Johnson D, Brooks A, van Slegtenhorst M, Fleischer J, Groepper D, Lindstrom K, Micheil Innes A, Goodwin A, Humberson J, Noyes A, Langley KG, Telegrafi A, Blevins A, Hoffman J, Guillen Sacoto MJ, Juusola J, Monaghan KG, Punj S, Simon M, Pfundt R, Elgersma Y, Kleefstra T
in Human mutation 2021
129. UBE3A reinstatement as a disease-modifying therapy for Angelman syndrome.
130. Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function.
Avagliano Trezza R, Punt AM, Mientjes E, van den Berg M, Zampeta FI, de Graaf IJ, van der Weegen Y, Demmers JAA, Elgersma Y, Distel B
in Scientific reports 2021
131. How to Identify Responders and Nonresponders to Dorsal Root Ganglion-Stimulation Aimed at Eliciting Motor Responses in Chronic Spinal Cord Injury: Post Hoc Clinical and Neurophysiological Tests in a Case Series of Five Patients.
in Neuromodulation : journal of the International Neuromodulation Society 2021
132. Region-specific preservation of Purkinje cell morphology and motor behavior in the ATXN1[82Q] mouse model of spinocerebellar ataxia 1.
White JJ, Bosman LWJ, Blot FGC, Osório C, Kuppens BW, Krijnen WHJJ, Andriessen C, De Zeeuw CI, Jaarsma D, Schonewille M
in Brain pathology (Zurich, Switzerland) 2021
133. Early Screening of Visual Processing Dysfunctions in Children Born Very or Extremely Preterm.
Kooiker MJG, van Gils MM, van der Zee YJ, Swarte RMC, Smit LS, Loudon S, van der Steen S, Reiss IKM, Pel JJM, van der Steen J
in Frontiers in human neuroscience 2021
134. Stabilization demands of walking modulate the vestibular contributions to gait.
135. Young Domestic Pigs Can Perform Pavlovian Eyeblink Conditioning.
Boele HJ, Joung S, Fil JE, Mudd AT, Fleming SA, Koekkoek SKE, Dilger RN
in Frontiers in behavioral neuroscience 2021
136. Rectifying and sluggish: Outer hair cells as regulators rather than amplifiers.
137. Loss of Gap Junction Delta-2 (GJD2) gene orthologs leads to refractive error in zebrafish.
Quint WH, Tadema KCD, de Vrieze E, Lukowicz RM, Broekman S, Winkelman BHJ, Hoevenaars M, de Gruiter HM, van Wijk E, Schaeffel F, Meester-Smoor M, Miller AC, Willemsen R, Klaver CCW, Iglesias AI
in Communications biology 2021
138. Saccadic reaction time in mirror image sectors across horizontal meridian in eye movement perimetry.
139. Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice.
Judson MC, Shyng C, Simon JM, Davis CR, Punt AM, Salmon MT, Miller NW, Ritola KD, Elgersma Y, Amaral DG, Gray SJ, Philpot BD
in JCI insight 2021
140. Activated PI3Kδ syndrome, an immunodeficiency disorder, leads to sensorimotor deficits recapitulated in a murine model.
Ines Serra, Olivia R. Manusama, Fabian.M.P. Kaiser, Izi Izumi Floriano, Lucas Wahl, Christian van der Zalm, Hanna IJspeert, P. Martin van Hagen, Nico J.M. van Beveren, Sandra M. Arend, Klaus Okkenhaug, Johan J.M. Pel, Virgil A.S.H. Dalm, Aleksandra Badura
in Brain, Behavior, & Immunity - Health 2021
141. The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique Homozygous Variant; Bio-Molecular Analysis and Review of the Literature.
Pellikaan K, van Woerden GM, Kleinendorst L, Rosenberg AGW, Horsthemke B, Grosser C, van Zutven LJCM, van Rossum EFC, van der Lely AJ, Resnick JL, Brüggenwirth HT, van Haelst MM, de Graaff LCG
in Genes 2021
142. A response to “Living with a fragmented body”: a qualitative study on perceptions about body changes after a spinal cord injury
143. Music to prevent deliriUm during neuroSurgerY (MUSYC) Clinical trial: a study protocol for a randomised controlled trial.
in BMJ open 2021
145. Environmental Enrichment Improves Vestibular Oculomotor Learning in Mice.
146. Tuned vibration modes in a miniature hearing organ: Insights from the bushcricket.
Vavakou A, Scherberich J, Nowotny M, van der Heijden M
in Proceedings of the National Academy of Sciences of the United States of America 2021
147. Secure Opportunistic Contextual Logging for Wearable Healthcare Sensing Devices.
148. OptiFlex: Multi-Frame Animal Pose Estimation Combining Deep Learning With Optical Flow.
Liu X, Yu SY, Flierman NA, Loyola S, Kamermans M, Hoogland TM, De Zeeuw CI
in Frontiers in cellular neuroscience 2021
149. Acidosis, cognitive dysfunction and motor impairments in patients with kidney disease.
Imenez Silva PH, Unwin R, Hoorn EJ, Ortiz A, Trepiccione F, Nielsen R, Pesic V, Hafez G, Fouque D, Massy ZA, De Zeeuw CI, Capasso G, Wagner CA
in Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2021
150. Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology.
Pandya NJ, Wang C, Costa V, Lopatta P, Meier S, Zampeta FI, Punt AM, Mientjes E, Grossen P, Distler T, Tzouros M, Martí Y, Banfai B, Patsch C, Rasmussen S, Hoener M, Berrera M, Kremer T, Dunkley T, Ebeling M, Distel B, Elgersma Y, Jagasia R
in Cell reports. Medicine 2021
151. Individual differences in error-related frontal midline theta activity during visuomotor adaptation.
Jonker ZD, van der Vliet R, Maquelin G, van der Cruijsen J, Ribbers GM, Selles RW, Donchin O, Frens MA
in NeuroImage 2021
152. A haploscope based binocular pupillometer system to quantify the dynamics of direct and consensual Pupillary Light Reflex.
in Scientific reports 2021
153. The Perception and Attitude Toward Noise and Music in the Operation Room: A Systematic Review.
154. WhiskEras 2.0 - Fast and Accurate Whisker Tracking in Rodents.
in 2021
155. Antisense oligonucleotide treatment rescues UBE3A expression and multiple phenotypes of an Angelman syndrome mouse model.
Milazzo C, Mientjes EJ, Wallaard I, Rasmussen SV, Erichsen KD, Kakunuri T, van der Sman ASE, Kremer T, Miller MT, Hoener MC, Elgersma Y
in JCI insight 2021
156. Protein phosphatase 2B dual function facilitates synaptic integrity and motor learning.
Lin Z, Wu B, Paul MW, Li KW, Yao Y, Smal I, Onori MP, Hasanbegovic H, Bezstarosti K, Demmers J, Houtsmuller AB, Meijering E, Hoebeek FE, Schonewille M, Smit AB, Gao Z, De Zeeuw CI
in The Journal of neuroscience : the official journal of the Society for Neuroscience 2021
157. GenNet framework: interpretable deep learning for predicting phenotypes from genetic data.
van Hilten A, Kushner SA, Kayser M, Arfan Ikram M, Adams HHH, Klaver CCW, Niessen WJ, Roshchupkin GV
in Communications biology 2021
158. Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder.
de Jong JO, Llapashtica C, Genestine M, Strauss K, Provenzano F, Sun Y, Zhu H, Cortese GP, Brundu F, Brigatti KW, Corneo B, Migliori B, Tomer R, Kushner SA, Kellendonk C, Javitch JA, Xu B, Markx S
in Nature communications 2021
159. Electrical match between initial segment and somatodendritic compartment for action potential backpropagation in retinal ganglion cells.
160. Inducible expression of human C9ORF72 36x G4C2 hexanucleotide repeats is sufficient to cause RAN translation and rapid muscular atrophy in mice
F.W. Riemslagh, E.C. van der Toorn, R.F.M. Verhagen, A. Maas, L.W.J. Bosman, R.K. Hukema, R. Willemsen
in Disease Models & Mechanisms 2021
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