Výsledky vyhledávání - "Katrien Smets"

Automated non-EEG based seizure detection: Do users have a say?

Autor: Katrien Smets, Berten Ceulemans, Kristien Wouters, Anouk Van de Vel

Publikováno v: EPILEPSY & BEHAVIOR

Purpose: Quality of life of patients with epilepsy depends largely upon unpredictability of seizure occurrence and would improve by predicting seizures or at least by detecting seizures (after their clinical onset) and react timely. Detection systems

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46c2273eaecce030d19e24f7b17df183
https://doi.org/10.1016/j.yebeh.2016.06.029

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Occupational airborne allergic contact dermatitis caused by N-(4-hydroxyphenyl)benzenesulfonamide

Autor: An Goossens, Michelle Mertens, L. Constandt, Evelyne Mangodt, Olivier Aerts, Katrien Smets

Publikováno v: Contact dermatitis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bd8f9e52fd1fe6fc7dc505cfaf5eb06
https://pubmed.ncbi.nlm.nih.gov/30334269

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Hereditary spastic paraplegia type 5: Natural history, biomarkers and a randomized controlled trial

Publikováno v: Brain
Brain 140(12), 3112-3127 (2017). doi:10.1093/brain/awx273

SPG5 is a rare subtype of Hereditary Spastic Paraplegia caused by mutations in the oxysterol-7 alpha-hydroxylase gene CYP7B1. Schols et al. study properties of lipid biomarkers in SPG5 and evaluate a treatment strategy targeting oxysterol accumulatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07087cf88738d19804b48f38ff9c02c7
http://hdl.handle.net/11588/706079

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Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients

Publikováno v: Neurobiology of aging

Mutation screening and phenotypic profiling of 2 amyotrophic lateral sclerosis-(ALS) and frontotemporal dementia-(FTD) associated genes, CHCHD10 and TUBA4A, were performed in a Belgian cohort of 459 FTD, 28 FTD-ALS, and 429 ALS patients. In CHCHD10,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8de458a4ea49707c85753bb5e49999a
https://repository.uantwerpen.be/docman/irua/f8279d/140638_2018_02_24.pdf

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Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28

Autor: Jean Jacques Martin, Paul M. Parizel, Peter De Jonghe, Jonathan Baets, Christina Jadoul, Elena I. Rugarli, Franco Taroni, Tine Deconinck, Anne Sieben, Robert De Potter, Wim Van Hecke, Shuaiyu Wang, Daniela Di Bella, Iris Smouts, Francine Couvreur, Katrien Smets

Publikováno v: Neurology

Objective: To identify the genetic cause of autosomal dominant spinocerebellar ataxia type 28 (SCA28) with ptosis in 2 Belgian families without AFG3L2 point mutations and further extend the clinical spectrum of SCA28 through the study of a brain auto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b0bd1d29870f1fb7d8b9d586a00f275
https://doi.org/10.1212/wnl.0000000000000491

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TBK1 mutation spectrum in an extended European patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis

Autor: Isabel Santana, Estrella Gómez-Tortosa, Federica Perrone, Patrick Cras, Alexandre de Mendonça, Jonathan Baets, Panagiotis Alexopoulos, Peter De Jonghe, Alessandro Padovani, Giovanni B. Frisoni, Frederico Simões do Couto, Håkan Thonberg, Philip Van Damme, Silvia Testi, Peter Paul De Deyn, Roberta Ghidoni, Matthew J. Fraidakis, Marc Bruyland, Maria Rosário Almeida, Alex Michotte, Jordi Clarimón, Agustín Ruiz, Jean Delbeck, Ilse Gijselinck, Jennifer Just, Olivier Deryck, Raquel Sánchez-Valle, Wim Robberecht, Matthis Synofzik, Giuliano Binetti, Adrian Ivanoiu, Sara Ortega-Cubero, Rik Vandenberghe, Isabel Hernández, Walter Maetzler, Ludger Schöls, Robert Perneczky, Kristel Sleegers, Ellen Gelpi, Alberto Lleó, Christine Van Broeckhoven, Julie van der Zee, Mercè Boada, Lubina Dillen, Eric Salmon, Marc Cruts, Patrick Santens, Sebastiaan Engelborghs, Janine Diehl-Schmid, Albert Lladó, Gian Maria Fabrizi, Radoslav Matej, Silvia Bagnoli, Pau Pastor, Frank Jessen, Barbara Borroni, Dirk Nuytten, Adrian Danek, Jan Versijpt, Bavo Heeman, Stayko Sarafov, Caroline Graff, Benedetta Nacmias, Luisa Benussi, Bart Dermaut, Johan Goeman, Michael T. Heneka, Katrien Smets, Gabor G. Kovacs, Christiana Willems, Sara Van Mossevelde, Albena Jordanova, Jan De Bleecker, Ricardo Rojas-García, Alfredo Ramirez, Bruno Bergmans, Ivailo Tournev, Veerle Bäumer, Gabriel Miltenberger-Miltenyi, Sandro Sorbi

Publikováno v: Human Mutation, Vol. 38, No 3 (2017) pp. 297-309
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Instituto de Salud Carlos III (ISCIII)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Human Mutation
Human mutation
Human mutation 38(3), 297-309 (2017). doi:10.1002/humu.23161

© 2016 The Authors. **Human Mutation published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::109e18977c1b5c191638868beaace792
http://hdl.handle.net/10044/1/45933

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SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study

Publikováno v: Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2016, 139 (5), pp.1378-1393. ⟨10.1093/brain/aww079⟩
Brain 139(5), 1378-1393 (2016). doi:10.1093/brain/aww079
Brain-A Journal of Neurology, Oxford University Press (OUP), 2016, 139 (5), pp.1378-1393. ⟨10.1093/brain/aww079⟩
Brain 139, 1378-1393 (2016)
Brain

Mutations in SYNE1, which encodes 'synaptic nuclear envelope protein 1', are reported to cause a relatively pure cerebellar ataxia largely limited to Quebec. By combining next-generation sequencing and deep phenotyping, however, Synofzik et al. revea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd01ed14b728cef943e57533c6fe04fa
https://hal.science/hal-01871789

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The spectrum of epilepsy caused by POLG mutations

Autor: Gert Van Goethem, Rik Vandenberghe, Löfgren Ann, Annelies Quaegebeur, Katrien Smets, Wim Van Paesschen, Wouter Janssen

Publikováno v: Acta neurologica Belgica

Mutations in POLG are increasingly recognized as a cause of refractory occipital lobe epilepsy (OLE) and status epilepticus (SE). Our aim was to describe the epilepsy syndrome in seven patients with POLG mutations. We retrospectively reviewed the med

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d227eab22ed852ceb9b1eb22a2f7afd
https://hdl.handle.net/10067/1322820151162165141

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