Zobrazeno 1 - 10
of 173
pro vyhledávání: '"Yvonne G Weber"'
Autor:
Niklas Schwarz, Betül Uysal, Marc Welzer, Jacqueline C Bahr, Nikolas Layer, Heidi Löffler, Kornelijus Stanaitis, Harshad PA, Yvonne G Weber, Ulrike BS Hedrich, Jürgen B Honegger, Angelos Skodras, Albert J Becker, Thomas V Wuttke, Henner Koch
Publikováno v:
eLife, Vol 8 (2019)
Most of our knowledge on human CNS circuitry and related disorders originates from model organisms. How well such data translate to the human CNS remains largely to be determined. Human brain slice cultures derived from neurosurgical resections may o
Externí odkaz:
https://doaj.org/article/d06c242bcb354d54b9ff0bd703b6cd6a
Autor:
Dennis Lal, Eva M Reinthaler, Borislav Dejanovic, Patrick May, Holger Thiele, Anna-Elina Lehesjoki, Günter Schwarz, Erik Riesch, M Arfan Ikram, Cornelia M van Duijn, Andre G Uitterlinden, Albert Hofman, Hannelore Steinböck, Ursula Gruber-Sedlmayr, Birgit Neophytou, Federico Zara, Andreas Hahn, Genetic Commission of the Italian League against Epilepsy, EuroEPINOMICS CoGIE Consortium, Padhraig Gormley, Felicitas Becker, Yvonne G Weber, Maria Roberta Cilio, Wolfram S Kunz, Roland Krause, Fritz Zimprich, Johannes R Lemke, Peter Nürnberg, Thomas Sander, Holger Lerche, Bernd A Neubauer
Publikováno v:
PLoS ONE, Vol 11, Iss 3, p e0150426 (2016)
ObjectiveThe SCN1A gene, coding for the voltage-gated Na+ channel alpha subunit NaV1.1, is the clinically most relevant epilepsy gene. With the advent of high-throughput next-generation sequencing, clinical laboratories are generating an ever-increas
Externí odkaz:
https://doaj.org/article/57fdd972a5f4468aab854329d85979d2
Autor:
Dennis Lal, Ann-Kathrin Ruppert, Holger Trucks, Herbert Schulz, Carolien G de Kovel, Dorothée Kasteleijn-Nolst Trenité, Anja C M Sonsma, Bobby P Koeleman, Dick Lindhout, Yvonne G Weber, Holger Lerche, Claudia Kapser, Christoph J Schankin, Wolfram S Kunz, Rainer Surges, Christian E Elger, Verena Gaus, Bettina Schmitz, Ingo Helbig, Hiltrud Muhle, Ulrich Stephani, Karl M Klein, Felix Rosenow, Bernd A Neubauer, Eva M Reinthaler, Fritz Zimprich, Martha Feucht, Rikke S Møller, Helle Hjalgrim, Peter De Jonghe, Arvid Suls, Wolfgang Lieb, Andre Franke, Konstantin Strauch, Christian Gieger, Claudia Schurmann, Ulf Schminke, Peter Nürnberg, EPICURE Consortium, Thomas Sander
Publikováno v:
PLoS Genetics, Vol 11, Iss 5, p e1005226 (2015)
Genetic generalised epilepsy (GGE) is the most common form of genetic epilepsy, accounting for 20% of all epilepsies. Genomic copy number variations (CNVs) constitute important genetic risk factors of common GGE syndromes. In our present genome-wide
Externí odkaz:
https://doaj.org/article/7a9aaf42fe42407c9b6b46e8e6a9130a
Autor:
Florian P. Fischer, Robin A. Karge, Yvonne G. Weber, Henner Koch, Stefan Wolking, Aaron Voigt
Publikováno v:
Frontiers in molecular neuroscience 16, 1-17 (2023). doi:10.3389/fnmol.2023.1116000 special issue: "Gene Therapy for the Central and Peripheral Nervous System Volume II"
Frontiers in molecular neuroscience 16, 1-17 (2023). doi:10.3389/fnmol.2023.1116000 special issue: "Gene Therapy for the Central and Peripheral Nervous System Volume II"
Published by Frontiers Research Foundation, Lausanne
Published by Frontiers Research Foundation, Lausanne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cd99a7d47466c6a960c11a80e2cea61
https://doi.org/10.3389/fnmol.2023.1116000
https://doi.org/10.3389/fnmol.2023.1116000
Publikováno v:
Nature Reviews Neurology. 18:71-83
Genetic generalized epilepsy (GGE) syndromes start during childhood or adolescence, and four commonly persist into adulthood, making up 15–20% of all cases of epilepsy in adults. These four GGE syndromes are childhood absence epilepsy, juvenile abs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7821e4d83db15b8e61e01553197aba0d
https://doi.org/10.1038/s41582-021-00583-9
https://doi.org/10.1038/s41582-021-00583-9
Autor:
Melanie Schreiber, Rainer Surges, Adam Strzelczyk, Yvonne G. Weber, Tim Wehner, Hajo M. Hamer, Felix Rosenow, Christian G. Bien, Johann Philipp Zöllner, Frithjof Tergau, Laurent M. Willems, Susanne Knake, Anke M. Staack, Matthias Dümpelmann, Christoph Kellinghaus, Frank Bösebeck, Felix von Podewils, Hartmut Baier, Yaroslav Winter
Publikováno v:
Clinical Neurophysiology. 132:2317-2322
OBJECTIVE: To analyze satisfaction with and reliability of video-electroencephalography-monitoring systems (VEMS) in epilepsy diagnostics.; METHODS: A survey was conducted between December 2020 and January 2021 among German epilepsy centers using wel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c49ea06b7b1528a5ef2474152bcd7ac
https://doi.org/10.1016/j.clinph.2021.04.020
https://doi.org/10.1016/j.clinph.2021.04.020
Autor:
Simona Balestrini, Yvonne G. Weber, Antonio Gambardella, Michael G Doyle, Genevieve Rayner, Vera Braatz, Sanjay M. Sisodiya, Norman Delanty, Stella Calafato, Helena Martins Custodio, J Foong, Francesca Bisulli, Samuel F. Berkovic, Luigi Agrò, Christian Hengsbach, Elvira Bramon, Baihan Wang, Gianpiero L. Cavalleri, Costin Leu, Ingrid E. Scheffer
Publikováno v:
Annals of neurology 90(3), 464-476 (2021). doi:10.1002/ana.26174
Annals of neurology 90(3), 464-476 (2021). doi:10.1002/ana.26174
Published by Wiley-Blackwell, Hoboken, NJ
Published by Wiley-Blackwell, Hoboken, NJ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52d91cd0c903ef58f80c5207a9c23dc4
https://doi.org/10.1002/ana.26174
https://doi.org/10.1002/ana.26174
Publikováno v:
Der Nervenarzt. 92:95-106
Die wissenschaftlichen Erkenntnisse uber Epilepsien und deren klinische Implikationen nehmen rasant zu. Fur Nichtexperten stellt sich die zunehmende Herausforderung, den Uberblick hieruber zu bewahren. Hier setzen Clinical-decision-support-Systeme (C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0107566b2a1560f1c1a100de72253918
https://doi.org/10.1007/s00115-020-01031-7
https://doi.org/10.1007/s00115-020-01031-7
Autor:
Rhys H. Thomas, Ingo Helbig, David Lewis-Smith, Hiltrud Muhle, Lacey Smith, Colin A Ellis, Manuela Pendziwiat, Epgp Investigators, Annika Rademacher, Annapurna Poduri, Simone Seiffert, Andreas van Baalen, Sarah E McKeown, Roland Krause, Shiva Ganesan, Sarah von Spiczak, Katherine L. Helbig, Peter D. Galer, Yvonne G. Weber
Publikováno v:
American Journal of Human Genetics
Summary More than 100 genetic etiologies have been identified in developmental and epileptic encephalopathies (DEEs), but correlating genetic findings with clinical features at scale has remained a hurdle because of a lack of frameworks for analyzing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ad1f3e5aaddc4fb92285fd126b6ef12
https://doi.org/10.1016/j.ajhg.2020.08.003
https://doi.org/10.1016/j.ajhg.2020.08.003
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
Autor:
Eudeline Alix, Anne-Lise Poulat, Nilay Güneş, Yvonne G. Weber, Maryam Najafi, José M. Serratosa, Ehsan Ghayoor Karimiani, Kaya Bilguvar, Tarek Omar, Katia Hardies, Dana Craiu, Hande Caglayan, Stéphanie Baulac, Fernando Kok, Reza Maroofian, Gaetan Lesca, Heba Morsy, Damien Sanlaville, Carla Marini, Renzo Guerrini, Nina Barišić, Luiza Ramos, Sarah von Spiczak, Miriam Schmidts, Patrick May, Karl Martin Klein, Beyhan Tüysüz, Audrey Labalme, Sarah Weckhuysen, Dilek Uludağ Alkaya, Julitta de Bellescize, Felix Rosenow, Farah Ashrafzadeh, Rudi Balling, Homa Tajsharghi, Amira Nabil, Katalin Sterbova, Felicitas Becker, Nicolas Chatron, Ali-Reza Moslemi, Holger Lerche, Hiltrud Muhle, Ingo Helbig, Haytham Hussien, Sandra Roselli
Publikováno v:
Brain
Brain, 143, pp. 1447-1461
Brain, 143, 1447-1461
Brain, 143, pp. 1447-1461
Brain, 143, 1447-1461
Chatron et al. describe a novel syndrome caused by bi-allelic loss-of-function mutations in GAD1, the gene encoding the GABA synthetic enzyme GAD67. The syndrome is characterized by the unique association of developmental and epileptic encephalopathy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15499a4b78880b918098714f0ca7fca2
https://doi.org/10.1093/brain/awaa085
https://doi.org/10.1093/brain/awaa085