Zobrazeno 1 - 10
of 3 547
pro vyhledávání: '"E Jansen"'
Autor:
Nichon E. Jansen, Dale Gardiner
Publikováno v:
Transplant International, Vol 37 (2024)
Externí odkaz:
https://doaj.org/article/e325b07df933470eb7866e4ec22cce70
Autor:
Geertruida Slinger, Lotte Noorlag, Eric vanDiessen, Willem M. Otte, Maeike Zijlmans, Floor E. Jansen, Kees P. J. Braun
Publikováno v:
Epilepsia Open, Vol 9, Iss 2, Pp 548-557 (2024)
Abstract Objective New‐onset seizure‐like events (SLEs) are common in children, but differentiating between epilepsy and its mimics is challenging. This study provides an overview of the clinical characteristics, diagnoses, and corresponding etio
Externí odkaz:
https://doaj.org/article/05de7a6770a34684aa786c64544d5c51
Autor:
A. R. Müller, B. den Hollander, P. M. van de Ven, K. C. B. Roes, L. Geertjens, H. Bruining, C. D. M. van Karnebeek, F. E. Jansen, M. C. Y. de Wit, L. W. ten Hoopen, A. B. Rietman, B. Dierckx, F. A. Wijburg, E. Boot, M. M. G. Brands, A. M. van Eeghen
Publikováno v:
BMC Psychiatry, Vol 24, Iss 1, Pp 1-14 (2024)
Abstract Background Many rare genetic neurodevelopmental disorders (RGNDs) are characterized by intellectual disability (ID), severe cognitive and behavioral impairments, potentially diagnosed as a comorbid autism spectrum disorder or attention-defic
Externí odkaz:
https://doaj.org/article/4f74098acbcb4b4a96235bd2a74ca971
Autor:
Nathan Buijsse, Floor E. Jansen, Charlotte W. Ockeloen, Marjan J. A. vanKempen, Shimriet Zeidler, Marjolein H. Willemsen, Emanuela Scarano, Sonia Monticone, Evelien Zonneveld‐Huijssoon, Karen J. Low, Allan Bayat, Sanjay M. Sisodiya, Debopam Samanta, Gaetan Lesca, Danielle deJong, Jaqcues C. Giltay, Nienke E. Verbeek, Tjitske Kleefstra, Eva H. Brilstra, Danique R. M. Vlaskamp
Publikováno v:
Epilepsia Open, Vol 8, Iss 4, Pp 1300-1313 (2023)
Abstract Objective The aim of this study was to describe the epilepsy phenotype in a large international cohort of patients with KBG syndrome and to study a possible genotype–phenotype correlation. Methods We collected data on patients with ANKRD11
Externí odkaz:
https://doaj.org/article/aed334dc863943859f018af92b96be34
Autor:
Franz Huschner, Jagoda Głowacka-Walas, James D. Mills, Katarzyna Klonowska, Kathryn Lasseter, John M. Asara, Romina Moavero, Christoph Hertzberg, Bernhard Weschke, Kate Riney, Martha Feucht, Theresa Scholl, Pavel Krsek, Rima Nabbout, Anna C. Jansen, Bořivoj Petrák, Jackelien van Scheppingen, Josef Zamecnik, Anand Iyer, Jasper J. Anink, Angelika Mühlebner, Caroline Mijnsbergen, Lieven Lagae, Paolo Curatolo, Julita Borkowska, Krzysztof Sadowski, Dorota Domańska-Pakieła, Magdalena Blazejczyk, Floor E. Jansen, Stef Janson, Malgorzata Urbanska, Aleksandra Tempes, Bart Janssen, Kamil Sijko, Konrad Wojdan, Sergiusz Jozwiak, Katarzyna Kotulska, Karola Lehmann, Eleonora Aronica, Jacek Jaworski, David J. Kwiatkowski
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-15 (2023)
Abstract We present a comprehensive multi-omic analysis of the EPISTOP prospective clinical trial of early intervention with vigabatrin for pre-symptomatic epilepsy treatment in Tuberous Sclerosis Complex (TSC), in which 93 infants with TSC were foll
Externí odkaz:
https://doaj.org/article/4ebd3a42e79a421f9ec149801b6df580
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-15 (2023)
Abstract Label noise hampers supervised training of neural networks. However, data without label noise is often infeasible to attain, especially for medical tasks. Attaining high-quality medical labels would require a pool of experts and their consen
Externí odkaz:
https://doaj.org/article/3e6d116ef6854261b54045fedd718295
Autor:
C. Waelbroeck, J. Tjiputra, C. Guo, K. H. Nisancioglu, E. Jansen, N. Vázquez Riveiros, S. Toucanne, F. Eynaud, L. Rossignol, F. Dewilde, E. Marchès, S. Lebreiro, S. Nave
Publikováno v:
Climate of the Past, Vol 19, Pp 901-913 (2023)
We combine consistently dated benthic carbon isotopic records distributed over the entire Atlantic Ocean with numerical simulations performed by a glacial configuration of the Norwegian Earth System Model with active ocean biogeochemistry in order to
Externí odkaz:
https://doaj.org/article/5b09dac2df624ffb9c8df61f238822bb
Autor:
Mark J. Luinenburg, Mirte Scheper, Frederik N. F. Sørensen, Jasper J. Anink, Wim Van Hecke, Irina Korshunova, Floor E. Jansen, Kate Riney, Pieter van Eijsden, Peter Gosselaar, James D. Mills, Rozemarijn S. Kalf, Till S. Zimmer, Diede W. M. Broekaart, Konstantin Khodosevich, Eleonora Aronica, Angelika Mühlebner
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 17 (2023)
IntroductionConstitutive activation of the mTOR pathway, as observed in Tuberous Sclerosis Complex (TSC), leads to glial dysfunction and subsequent epileptogenesis. Although astrocytes are considered important mediators for synaptic clearance and pha
Externí odkaz:
https://doaj.org/article/0db49681f11748d091f2555b467a7b86
Autor:
Douglas P. Wightman, Jeanne E. Savage, Christiaan A. de Leeuw, Iris E. Jansen, Danielle Posthuma
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-10 (2023)
Abstract Proxy phenotypes allow for the utilization of genetic data from large population cohorts to analyze late-onset diseases by using parental diagnoses as a proxy for genetic disease risk. Proxy phenotypes based on parental diagnosis status have
Externí odkaz:
https://doaj.org/article/ddd1d49a0fcf42238118eeb84e14d5ef
Autor:
Michael E. Belloy, Sarah J. Eger, Yann Le Guen, Vincent Damotte, Shahzad Ahmad, M. Arfan Ikram, Alfredo Ramirez, Anthoula C. Tsolaki, Giacomina Rossi, Iris E. Jansen, Itziar de Rojas, Kayenat Parveen, Kristel Sleegers, Martin Ingelsson, Mikko Hiltunen, Najaf Amin, Ole Andreassen, Pascual Sánchez-Juan, Patrick Kehoe, Philippe Amouyel, Rebecca Sims, Ruth Frikke-Schmidt, Wiesje M. van der Flier, Jean-Charles Lambert, for the European Alzheimer & Dementia BioBank (EADB), Zihuai He, Summer S. Han, Valerio Napolioni, Michael D. Greicius
Publikováno v:
Alzheimer’s Research & Therapy, Vol 14, Iss 1, Pp 1-17 (2022)
Abstract Background Genetic variants within the APOE locus may modulate Alzheimer’s disease (AD) risk independently or in conjunction with APOE*2/3/4 genotypes. Identifying such variants and mechanisms would importantly advance our understanding of
Externí odkaz:
https://doaj.org/article/5013e50361ee4e08a848d2a36da27e65