81. A cross-species spatiotemporal proteomic analysis identifies UBE3A-dependent signaling pathways and targets.
Pandya NJ, Meier S, Tyanova S, Terrigno M, Wang C, Punt AM, Mientjes EJ, Vautheny A, Distel B, Kremer T, Elgersma Y, Jagasia R
in Molecular psychiatry 2022
82. Detection of visual field defects using Eye Movement Pediatric Perimetry in children with intracranial lesions: feasibility and applicability.
Meethal NSK, Robben J, Mazumdar D, Loudon S, Naus N, Polling JR, van der Steen J, George R, Pel JJM
in Heliyon 2022
84. High-resolution micro-Doppler imaging during neurosurgical resection of an arteriovenous malformation: illustrative case
85. Automated causal inference in application to randomized controlled clinical trials.
Jiqing Wu, Nanda Horeweg, Marco de Bruyn, Remi A. Nout, Ina M. Jürgenliemk-Schulz, Ludy C. H. W. Lutgens, Jan J. Jobsen, Elzbieta M. van der Steen-Banasik, Hans W. Nijman, Vincent T. H. B. M. Smit, Tjalling Bosse, Carien L. Creutzberg, Viktor H. Koelzer
in Nat. Mach. Intell. 2022
86. Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder.
Kaiser FMP, Gruenbacher S, Oyaga MR, Nio E, Jaritz M, Sun Q, van der Zwaag W, Kreidl E, Zopf LM, Dalm VASH, Pel J, Gaiser C, van der Vliet R, Wahl L, Rietman A, Hill L, Leca I, Driessen G, Laffeber C, Brooks A, Katsikis PD, Lebbink JHG, Tachibana K, van der Burg M, De Zeeuw CI, Badura A, Busslinger M
in The Journal of experimental medicine 2022
87. Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology.
Mullins N, Forstner AJ, O'Connell KS, Coombes B, Coleman JRI, Qiao Z, Als TD, Bigdeli TB, Børte S, Bryois J, Charney AW, Drange OK, Gandal MJ, Hagenaars SP, Ikeda M, Kamitaki N, Kim M, Krebs K, Panagiotaropoulou G, Schilder BM, Sloofman LG, Steinberg S, Trubetskoy V, Winsvold BS, Won HH, Abramova L, Adorjan K, Agerbo E, Al Eissa M, Albani D, Alliey-Rodriguez N, Anjorin A, Antilla V, Antoniou A, Awasthi S, Baek JH, Bækvad-Hansen M, Bass N, Bauer M, Beins EC, Bergen SE, Birner A, Bøcker Pedersen C, Bøen E, Boks MP, Bosch R, Brum M, Brumpton BM, Brunkhorst-Kanaan N, Budde M, Bybjerg-Grauholm J, Byerley W, Cairns M, Casas M, Cervantes P, Clarke TK, Cruceanu C, Cuellar-Barboza A, Cunningham J, Curtis D, Czerski PM, Dale AM, Dalkner N, David FS, Degenhardt F, Djurovic S, Dobbyn AL, Douzenis A, Elvsåshagen T, Escott-Price V, Ferrier IN, Fiorentino A, Foroud TM, Forty L, Frank J, Frei O, Freimer NB, Frisén L, Gade K, Garnham J, Gelernter J, Giørtz Pedersen M, Gizer IR, Gordon SD, Gordon-Smith K, Greenwood TA, Grove J, Guzman-Parra J, Ha K, Haraldsson M, Hautzinger M, Heilbronner U, Hellgren D, Herms S, Hoffmann P, Holmans PA, Huckins L, Jamain S, Johnson JS, Kalman JL, Kamatani Y, Kennedy JL, Kittel-Schneider S, Knowles JA, Kogevinas M, Koromina M, Kranz TM, Kranzler HR, Kubo M, Kupka R, Kushner SA, Lavebratt C, Lawrence J, Leber M, Lee HJ, Lee PH, Levy SE, Lewis C, Liao C, Lucae S, Lundberg M, MacIntyre DJ, Magnusson SH, Maier W, Maihofer A, Malaspina D, Maratou E, Martinsson L, Mattheisen M, McCarroll SA, McGregor NW, McGuffin P, McKay JD, Medeiros H, Medland SE, Millischer V, Montgomery GW, Moran JL, Morris DW, Mühleisen TW, O'Brien N, O'Donovan C, Olde Loohuis LM, Oruc L, Papiol S, Pardiñas AF, Perry A, Pfennig A, Porichi E, Potash JB, Quested D, Raj T, Rapaport MH, DePaulo JR, Regeer EJ, Rice JP, Rivas F, Rivera M, Roth J, Roussos P, Ruderfer DM, Sánchez-Mora C, Schulte EC, Senner F, Sharp S, Shilling PD, Sigurdsson E, Sirignano L, Slaney C, Smeland OB, Smith DJ, Sobell JL, Søholm Hansen C, Soler Artigas M, Spijker AT, Stein DJ, Strauss JS, Świątkowska B, Terao C, Thorgeirsson TE, Toma C, Tooney P, Tsermpini EE, Vawter MP, Vedder H, Walters JTR, Witt SH, Xi S, Xu W, Yang JMK, Young AH, Young H, Zandi PP, Zhou H, Zillich L, Adolfsson R, Agartz I, Alda M, Alfredsson L, Babadjanova G, Backlund L, Baune BT, Bellivier F, Bengesser S, Berrettini WH, Blackwood DHR, Boehnke M, Børglum AD, Breen G, Carr VJ, Catts S, Corvin A, Craddock N, Dannlowski U, Dikeos D, Esko T, Etain B, Ferentinos P, Frye M, Fullerton JM, Gawlik M, Gershon ES, Goes FS, Green MJ, Grigoroiu-Serbanescu M, Hauser J, Henskens F, Hillert J, Hong KS, Hougaard DM, Hultman CM, Hveem K, Iwata N, Jablensky AV, Jones I, Jones LA, Kahn RS, Kelsoe JR, Kirov G, Landén M, Leboyer M, Lewis CM, Li QS, Lissowska J, Lochner C, Loughland C, Martin NG, Mathews CA, Mayoral F, McElroy SL, McIntosh AM, McMahon FJ, Melle I, Michie P, Milani L, Mitchell PB, Morken G, Mors O, Mortensen PB, Mowry B, Müller-Myhsok B, Myers RM, Neale BM, Nievergelt CM, Nordentoft M, Nöthen MM, O'Donovan MC, Oedegaard KJ, Olsson T, Owen MJ, Paciga SA, Pantelis C, Pato C, Pato MT, Patrinos GP, Perlis RH, Posthuma D, Ramos-Quiroga JA, Reif A, Reininghaus EZ, Ribasés M, Rietschel M, Ripke S, Rouleau GA, Saito T, Schall U, Schalling M, Schofield PR, Schulze TG, Scott LJ, Scott RJ, Serretti A, Shannon Weickert C, Smoller JW, Stefansson H, Stefansson K, Stordal E, Streit F, Sullivan PF, Turecki G, Vaaler AE, Vieta E, Vincent JB, Waldman ID, Weickert TW, Werge T, Wray NR, Zwart JA, Biernacka JM, Nurnberger JI, Cichon S, Edenberg HJ, Stahl EA, McQuillin A, Di Florio A, Ophoff RA, Andreassen OA
in Nature genetics 2021
88. Schizophrenia polygenic risk is associated with child mental health problems through early childhood adversity: evidence for a gene-environment correlation.
Bolhuis K, Steenkamp LR, Blanken LME, Neumann A, Jansen PR, Hillegers MHJ, Cecil CAM, Tiemeier H, Kushner SA
in European child & adolescent psychiatry 2021
89. 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
90. 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
91. 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
92. 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
93. 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
94. To Explore the Predictive Power of Visuomotor Network Dysfunctions in Mild Cognitive Impairment and Alzheimer's Disease.
95. Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations.
in Human molecular genetics 2021
96. 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
97. UBE3A reinstatement as a disease-modifying therapy for Angelman syndrome.
98. 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
99. 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
100. 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
101. 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
102. Stabilization demands of walking modulate the vestibular contributions to gait.
103. 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
104. Rectifying and sluggish: Outer hair cells as regulators rather than amplifiers.
105. 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
106. Saccadic reaction time in mirror image sectors across horizontal meridian in eye movement perimetry.
107. 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
108. 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
109. 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
110. A response to “Living with a fragmented body”: a qualitative study on perceptions about body changes after a spinal cord injury
111. Music to prevent deliriUm during neuroSurgerY (MUSYC) Clinical trial: a study protocol for a randomised controlled trial.
in BMJ open 2021
113. Environmental Enrichment Improves Vestibular Oculomotor Learning in Mice.
114. 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
115. Secure Opportunistic Contextual Logging for Wearable Healthcare Sensing Devices.
116. 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
117. 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
118. 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
119. 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
120. A haploscope based binocular pupillometer system to quantify the dynamics of direct and consensual Pupillary Light Reflex.
in Scientific reports 2021
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