المؤلفون: Katharina Timpte, Ulrike Rosenkötter, Philipp Honrath, Yvonne Weber, Stefan Wolking, Jan Heckelmann

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: epilepsy monitoring unit, interictal epileptic discharges, interictal epileptiform abnormality, differential diagnosis, antiseizure medication, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1281652/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/3ce7a9adfc4a42c18fcd131d65263df7

المؤلفون: Isabelle Boothman, Lisa M. Clayton, Mark McCormack, Alexandra McKibben Driscoll, Remi Stevelink, Patrick Moloney, Roland Krause, Wolfram S. Kunz, Sarah Diehl, Terence J. O’Brien, Graeme J. Sills, Gerrit-Jan de Haan, Federico Zara, Bobby P. Koeleman, Chantal Depondt, Anthony G. Marson, Hreinn Stefansson, Kari Stefansson, John Craig, Michael R. Johnson, Pasquale Striano, Holger Lerche, Simon J. Furney, Norman Delanty, Consortium EpiPGX, Sanjay M. Sisodiya, Gianpiero L. Cavalleri, Joseph Willis, Mojgansadat Borghei, Simona Donatello, Martin J. Brodie, Pauls Auce, Andrea Jorgensen, Sarah R. Langley, Yvonne Weber, Christian Hengsbach, Martin Krenn, Fritz Zimprich, Ekaterina Pataraia, Karl Martin Klein, Hiltrud Muhle, Rikke S. Møller, Marina Nikanorova, Stefan Wolking, Ellen Campbell, Antonella Riva, Marcello Scala

المصدر: Frontiers in Neuroscience, Vol 17 (2023)

مصطلحات موضوعية: adverse drug reaction, epilepsy, retina, genome wide association study, polygenic risk score, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2023.1156362/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/9ba7aecc0196466792d32bdb7c7d0945

المؤلفون: Francesca Vallese, Lorenzo Maso, Flavia Giamogante, Elena Poggio, Lucia Barazzuol, Andrea Salmaso, Raffaele Lopreiato, Laura Cendron, Lorella Navazio, Ginevra Zanni, Yvonne Weber, Tatjana Kovacevic-Preradovic, Boris Keren, Alessandra Torraco, Rosalba Carrozzo, Francesco Peretto, Caterina Peggion, Stefania Ferro, Oriano Marin, Giuseppe Zanotti, Tito Calì, Marisa Brini, Ernesto Carafoli

المصدر: Cell Death and Disease, Vol 13, Iss 10, Pp 1-14 (2022)

مصطلحات موضوعية: Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-4889

URL الوصول: https://doaj.org/article/f8d8e2b2d085473b97ba00579a8eca6a

المؤلفون: Simone Seiffert, Manuela Pendziwiat, Ulrike B. S. Hedrich, Ingo Helbig, Yvonne Weber, Niklas Schwarz

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: potassium channel, developmental and epileptic encephalopathy, KCNC2 electrophysiology, functional analysis, precision medicine, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1212079/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/f35535cc4a4a40148a114289331ac4de

المؤلفون: Simone Seiffert, Manuela Pendziwiat, Tatjana Bierhals, Himanshu Goel, Niklas Schwarz, Amelie van der Ven, Christian Malte Boßelmann, Johannes Lemke, Steffen Syrbe, Marjolein Hanna Willemsen, Ulrike Barbara Stefanie Hedrich, Ingo Helbig, Yvonne Weber

المصدر: EBioMedicine, Vol 83, Iss , Pp 104234- (2022)

مصطلحات موضوعية: FGF12, Sodium channels, Epilepsy, SCN2A, SCN8A, Autism spectrum disorder, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396422004169; https://doaj.org/toc/2352-3964

URL الوصول: https://doaj.org/article/9b7caa81b2d8413d952650a2d1d40fe9

المؤلفون: Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung-Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S. Møller, Allan Bayat, Patrick Calvas, Nicolas Chassaing, Hannah Warren, Steven Skinner, Raymond Louie, Christina Evers, Marc Bohn, Hans-Jürgen Christen, Myrthe van den Born, Ewa Obersztyn, Agnieszka Charzewska, Milda Endziniene, Fanny Kortüm, Natasha Brown, Peter N. Robinson, Helenius J. Schelhaas, Yvonne Weber, Ingo Helbig, Stefan Mundlos, Denise Horn, Peter M. Krawitz

المصدر: Genome Medicine, Vol 10, Iss 1, Pp 1-13 (2018)

مصطلحات موضوعية: GPI, Anchor biosynthesis defects, Automated image analysis, Gene, Prediction, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13073-017-0510-5; https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/65a240001c28434ca259e07e806334ff

المؤلفون: Christian Boßelmann, Jan Zurloh, Maria-Ioanna Stefanou, Vera Stadler, Yvonne Weber, Holger Lerche, Sven Poli, Ulf Ziemann, Annerose Mengel

المصدر: Frontiers in Neurology, Vol 10 (2019)

مصطلحات موضوعية: stroke, intracerebral hemorrhage, post-stroke delirium, post-stroke aphasia, intensive care delirium screening checklist, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2019.01198/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/a84d0953e6834a6b9caa072b56920a45

المؤلفون: Jan Henje Döring, Afshin Saffari, Thomas Bast, Knut Brockmann, Laura Ehrhardt, Walid Fazeli, Wibke G. Janzarik, Gerhard Kluger, Hiltrud Muhle, Rikke S. Møller, Konrad Platzer, Joana Larupa Santos, Iben Bache, Astrid Bertsche, Michaela Bonfert, Ingo Borggräfe, Philip J. Broser, Alexandre N. Datta, Trine Bjørg Hammer, Hans Hartmann, Anette Hasse-Wittmer, Marco Henneke, Hermann Kühne, Johannes R. Lemke, Oliver Maier, Eva Matzker, Andreas Merkenschlager, Joachim Opp, Steffi Patzer, Kevin Rostasy, Birgit Stark, Adam Strzelczyk, Celina von Stülpnagel, Yvonne Weber, Markus Wolff, Birgit Zirn, Georg Friedrich Hoffmann, Stefan Kölker, Steffen Syrbe

المصدر: Biomedicines, Vol 8, Iss 11, p 456 (2020)

مصطلحات موضوعية: PRRT2, BFIS, PKD, PKD/IC, hemiplegic migraine, familial infantile epilepsy, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/8/11/456; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/eb6e214b3abb422dac7278efdec1bac7

المؤلفون: Idil Hanci, Christoph Kamm, Marlieke Scholten, Lorenzo P. Roncoroni, Yvonne Weber, Rejko Krüger, Christian Plewnia, Alireza Gharabaghi, Daniel Weiss

المصدر: Frontiers in Neurology, Vol 9 (2018)

مصطلحات موضوعية: glucose transporter type 1 (GLUT1), glucose transporter type-1 deficiency syndrome (GLUT1-DS), deep brain stimulation (DBS), globus pallidus internus (GPi), dystonia, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2018.00381/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/22398fbe6f21459d82e0736929eb1e5d

المؤلفون: Niklas Schwarz, MD, Simone Seiffert, MSc, Manuela Pendziwiat, Annika Verena Rademacher, Tobias Br ̈unger, PhD, Ulrike B. S. Hedrich, Paul B. Augustijn, Hartmut Baier, Allan Bayat, Francesca Bisulli, MD PhD, Russell J. Buono, Ben Zeev Bruria, Michael G. Doyle, Renzo Guerrini, Gali Heimer, Michele Iacomino, Hugh Kearney, Karl Martin Klein, Ioanna Kousiappa, Wolfram S. Kunz, Holger Lerche, Laura Licchetta, Ebba Lohmann, Raffaella Minardi, Marie McDonald, Sarah Montgomery, MS, Lejla Mulahasanovic, Renske Oegema, Barel Ortal, Savvas S. Papacostas, Francesca Ragona, Tiziana Granata, Phillip S. Reif, Felix Rosenow, Annick Rothschild, Paolo Scudieri, Pasquale Striano, Paolo Tinuper, George A. Tanteles, Annalisa Vetro, Felix Zahnert, Ethan M. Goldberg, Federico Zara, Dennis Lal, Patrick May, Hiltrud Muhle, Ingo Helbig, and Yvonne Weber

المساهمون: Schwarz, Nikla, Md, Seiffert, Simone, Msc, Pendziwiat, Manuela, Verena Rademacher, Annika, Br ̈unger, Tobia, Phd, Hedrich, Ulrike B. S., Augustijn, Paul B., Baier, Hartmut, Bayat, Allan, Bisulli, Francesca, Phd, Md, Buono, Russell J., Zeev Bruria, Ben, Doyle, Michael G., Guerrini, Renzo, Heimer, Gali, Iacomino, Michele, Kearney, Hugh, Martin Klein, Karl, Kousiappa, Ioanna, Kunz, Wolfram S., Lerche, Holger, Licchetta, Laura, Lohmann, Ebba, Minardi, Raffaella, Mcdonald, Marie, Montgomery, Sarah, Ms, Mulahasanovic, Lejla, Oegema, Renske, Ortal, Barel, Papacostas, Savvas S., Ragona, Francesca, Granata, Tiziana, Reif, Phillip S., Rosenow, Felix, Rothschild, Annick, Scudieri, Paolo, Striano, Pasquale, Tinuper, Paolo, Tanteles, George A., Vetro, Annalisa, Zahnert, Felix, Goldberg, Ethan M., Zara, Federico, Lal, Denni, May, Patrick, Muhle, Hiltrud, Helbig, Ingo, Yvonne Weber, And

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/35314505; info:eu-repo/semantics/altIdentifier/wos/WOS:000796369700024; volume:98; firstpage:e2046; lastpage:e2059; numberofpages:14; journal:NEUROLOGY; https://hdl.handle.net/11567/1093117; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85131645340

الاتاحة: https://hdl.handle.net/11567/1093117
https://doi.org/10.1212/WNL.0000000000200660

المؤلفون: Barbara Hoppe, Yvonne Weber, Stefan Wolking

المصدر: Der Nervenarzt. 94:149-158

مصطلحات موضوعية: Psychiatry and Mental health, Neurology, Neurology (clinical), General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3f013551b774f1f5242fe4c7ee56c401
https://doi.org/10.1007/s00115-022-01434-8

المؤلفون: Ilona, Krey, Konrad, Platzer, Alina, Esterhuizen, Samuel F, Berkovic, Ingo, Helbig, Michael S, Hildebrand, Holger, Lerche, Daniel, Lowenstein, Rikke S, Møller, Annapurna, Poduri, Lynette, Sadleir, Sanjay M, Sisodiya, Sarah, Weckhuysen, Jo M, Wilmshurst, Yvonne, Weber, Johannes R, Lemke, Samuel F., Berkovic, J. Helen, Cross, Heathea C., Mefford, Piero, Perucca, Nigel C.K., Tan, Hande, Caglayan, Katherine, Helbig, Gagandeep, Singh

المساهمون: ILAE Genetics Commission, Task Force Clinical Genetic Testin

المصدر: Epileptic disorders

مصطلحات موضوعية: Epilepsy, Neurology, Humans, Genetic Testing, Human medicine, Neurology (clinical), General Medicine, Diagnostic Techniques and Procedures

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24aef99116abd652d701daacf1821872
https://doi.org/10.1684/epd.2022.1448

المؤلفون: Jan Heckelmann, Yvonne Weber

المصدر: Klinische Neurophysiologie. 53:148-153

مصطلحات موضوعية: Physiology (medical), Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::52ad35a12a3f9e1a4a9090bfeedb0b79
https://doi.org/10.1055/a-1875-1645

المؤلفون: Jan Heckelmann, Yvonne Weber

المصدر: Nervenheilkunde. 41:487-491

مصطلحات موضوعية: Neurology (clinical), Family Practice

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::95441ca2cf8e82514abd22e0396d3897
https://doi.org/10.1055/a-1844-8292

المؤلفون: Ufuk Sadak, Philipp Honrath, Ummehan Ermis, Jan Heckelmann, Tareq Meyer, Yvonne Weber, Stefan Wolking

المصدر: Seizure. 98:27-33

مصطلحات موضوعية: Epilepsy, Neurology, Case-Control Studies, Humans, Sleep, REM, Electroencephalography, Prospective Studies, Neurology (clinical), General Medicine, Biomarkers, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ab1b59d08c05c655de55ec6621eee15
https://doi.org/10.1016/j.seizure.2022.03.022

المؤلفون: Ariadna Pérez Garriga, Stefan Wolking, Jonas Fortmann, Raphael W. Majeed, Christian Stockem, Lukas Niekrenz, Christian Bosselmann, Yvonne Weber, Rainer Röhrig, Myriam Lipprandt

المصدر: Caring is Sharing – Exploiting the Value in Data for Health and Innovation ISBN: 9781643683881

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b95e8ae11dec797cdf3faaea9d62c202
https://doi.org/10.3233/shti230218

المؤلفون: Mohamed Alhaskir, Jennifer Bauer, Florian Linke, Elisabeth Schriewer, Yvonne Weber, Stefan Wolking, Rainer Röhrig, Markus Rothermel, Henner Koch, Ekaterina Kutafina

المصدر: Caring is Sharing – Exploiting the Value in Data for Health and Innovation ISBN: 9781643683881

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::68455b1f317124d4f4494b3b61324bb5
https://doi.org/10.3233/shti230336

المؤلفون: Christian Boßelmann, Ingo Borggräfe, Walid Fazeli, Karl-Martin Klein, Gerhard J. Kluger, Karen Müller-Schlüter, Bernd A. Neubauer, Sarah von Spiczak, Celina Steinbeis von Stülpnagel, Yvonne Weber, Johannes R. Lemke, Stefan Wolking, Ilona Krey

المصدر: Clinical Epileptology.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::731f01b737a8329da6243db8dcfc46b0
https://doi.org/10.1007/s10309-023-00580-6

المؤلفون: Felix Knispel, Alexander Brenner, Rainer Röhrig, Yvonne Weber, Julian Varghese, Ekaterina Kutafina

المصدر: Amsterdam : IOS Press, Studies in Health Technology and Informatics 296, 33-40 (2022). doi:10.3233/SHTI220801
German Medical Data Sciences 2022 – Future Medicine: More Precise, More Integrative, More Sustainable!

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaba68774bf0214436f04ed0a16ef00d
https://doi.org/10.3233/shti220801

المؤلفون: Hannah Stamberger, David Crosiers, Ganna Balagura, Claudia M. Bonardi, Anna Basu, Gaetano Cantalupo, Valentina Chiesa, Jakob Christensen, Bernardo Dalla Bernardina, Colin A. Ellis, Francesca Furia, Fiona Gardiner, Camille Giron, Renzo Guerrini, Karl Martin Klein, Christian Korff, Hana Krijtova, Melanie Leffler, Holger Lerche, Gaetan Lesca, David Lewis-Smith, Carla Marini, Dragan Marjanovic, Laure Mazzola, Sarah McKeown Ruggiero, Fanny Mochel, Francis Ramond, Philipp S. Reif, Aurélie Richard-Mornas, Felix Rosenow, Christian Schropp, Rhys H. Thomas, Aglaia Vignoli, Yvonne Weber, Elizabeth Palmer, Ingo Helbig, Ingrid E. Scheffer, Pasquale Striano, Rikke S. Møller, Elena Gardella, Sarah Weckhuysen

المصدر: Stamberger, H, Crosiers, D, Balagura, G, Bonardi, C M, Basu, A, Cantalupo, G, Chiesa, V, Christensen, J, Dalla Bernardina, B, Ellis, C A, Furia, F, Gardiner, F, Giron, C, Guerrini, R, Klein, K M, Korff, C, Krijtova, H, Leffner, M, Lerche, H, Lesca, G, Lewis-Smith, D, Marini, C, Marjanovic, D, Mazzola, L, McKeown Ruggiero, S, Mochel, F, Ramond, F, Reif, P S, Richard-Mornas, A, Rosenow, F, Schropp, C, Thomas, R H, Vignoli, A, Weber, Y, Palmer, E, Helbig, I, Scheffer, I E, Striano, P, Møller, R S, Gardella, E & Weckhuysen, S 2022, ' Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy into Adulthood ', Neurology, vol. 99, no. 3, pp. E221-E233 . https://doi.org/10.1212/WNL.0000000000200715
Neurology
Neurology 99(3), e221-e233 (2022). doi:10.1212/WNL.0000000000200715

مصطلحات موضوعية: Adult, Epilepsy, Movement Disorders, Adolescent, Infant, Electroencephalography, Middle Aged, Young Adult, Munc18 Proteins, Seizures, Activities of Daily Living, Mutation, Humans, Human medicine, Neurology (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9c44c6535fedb2cdb8a42772cfe58f9
https://pure.au.dk/ws/files/330041391/NaturalHistoryStudyofSTXBP1_Developmentaland_EpilepticEncephalopathyIntoAdulthood.pdf