المؤلفون: Katrine M. Johannesen, Eduardo Pérez-Palma, Guido Rubboli

المصدر: Frontiers in Neuroscience, Vol 17 (2023)

مصطلحات موضوعية: SLC6A1, epilepsy, epilepsy genetics, neurodevelopmental disorders, genetics, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2023.1289821/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/1bcff17ea283413fac26e0b3d259c985

المؤلفون: Yuri Zarate, Katherine Bosanko, Amrit Kannan, Ashlen Thomason, Beth Nutt, Nihit Kumar, Kirk Simmons, Aaron Hiegert, Larry Hartzell, Adam Johnson, Tabitha Prater, Jillian Kimberlain, Aisling Caffrey, Arthur Stefanski, Tobias Brünger, Eduardo Pérez-Palma, Dennis Lal

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100397- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423003977; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/ebdcc18695e54f99ad43a5293f318bf5

المؤلفون: Álvaro Beltrán-Corbellini, Ángel Aledo-Serrano, Rikke S. Møller, Eduardo Pérez-Palma, Irene García-Morales, Rafael Toledano, Antonio Gil-Nagel

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: neurogenetics, precision therapy, seizure, personalized medicine, rare diseases, genetic testing, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.777115/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/ccf094e16ad94386a947a3ffb115c1a8

المؤلفون: Javier A. López-Rivera, Victoria Smuk, Costin Leu, Gaelle Nasr, Deborah Vegh, Arthur Stefanski, Eduardo Pérez-Palma, Robyn Busch, Lara Jehi, Imad Najm, Ingmar Blümcke, Dennis Lal

المصدر: Epilepsy & Behavior Reports, Vol 18, Iss , Pp 100527- (2022)

مصطلحات موضوعية: Epilepsy, Epilepsy surgery, Malformation of cortical development, Hippocampal sclerosis, Low-grade Epilepsy-associated tumor, Neurology. Diseases of the nervous system, RC346-429, Neurophysiology and neuropsychology, QP351-495

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589986422000041; https://doaj.org/toc/2589-9864

URL الوصول: https://doaj.org/article/c8a6b356c3334f9fba6efd403a6190f7

المؤلفون: Anne M. Rochtus, Richard D. Goldstein, Ingrid A. Holm, Catherine A. Brownstein, Eduardo Pérez‐Palma, Robin Haynes, Dennis Lal, Annapurna H. Poduri

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)

مصطلحات موضوعية: arrhythmia, epilepsy, sodium channel, sudden unexpected death, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/5ae6a5af873f4ffc980a379de8f7330e

المؤلفون: Eduardo Pérez-Palma, Víctor Andrade, Mario O. Caracci, Bernabé I. Bustos, Camilo Villaman, Matías A. Medina, Miguel E. Ávila, Giorgia D. Ugarte, Giancarlo V. De Ferrari

المصدر: Neural Plasticity, Vol 2016 (2016)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-5904; https://doaj.org/toc/1687-5443

URL الوصول: https://doaj.org/article/35d08dd20a6440888802026ac09217a0

المؤلفون: Eduardo Pérez-Palma, Bernabé I Bustos, Camilo F Villamán, Marcelo A Alarcón, Miguel E Avila, Giorgia D Ugarte, Ariel E Reyes, Carlos Opazo, Giancarlo V De Ferrari, Alzheimer's Disease Neuroimaging Initiative, NIA-LOAD/NCRAD Family Study Group

المصدر: PLoS ONE, Vol 9, Iss 4, p e95413 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3995778?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/b580d53007304ec59e5dcef51605ac29

المؤلفون: Sumaiya Iqbal, Tobias Brünger, Eduardo Pérez-Palma, Marie Macnee, Andreas Brunklaus, Mark J Daly, Arthur J Campbell, David Hoksza, Patrick May, Dennis Lal

المساهمون: Institute for Molecular Medicine Finland, Centre of Excellence in Complex Disease Genetics, Fonds National de la Recherche - FnR [sponsor], DFG [sponsor], BMBF [sponsor], Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]

المصدر: Brain. 146:519-533

مصطلحات موضوعية: Neurologie [D14] [Sciences de la santé humaine], Neurodevelopmental disorder, Bioinformatics, Neurology [D14] [Human health sciences], Genetics, 3112 Neurosciences, Neurodevelopmental diseases, genetics, bioinformatics, Genetics & genetic processes [F10] [Life sciences], Neurology (clinical), Génétique & processus génétiques [F10] [Sciences du vivant], 3124 Neurology and psychiatry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8de97e10b6264507d48ee25dd5c51f65
https://doi.org/10.1093/brain/awac381

المؤلفون: Dennis Lal, Patrick May, Eduardo Perez-Palma, Kaitlin E. Samocha, Jack A. Kosmicki, Elise B. Robinson, Rikke S. Møller, Roland Krause, Peter Nürnberg, Sarah Weckhuysen, Peter De Jonghe, Renzo Guerrini, Lisa M. Niestroj, Juliana Du, Carla Marini, EuroEPINOMICS-RES Consortium, James S. Ware, Mitja Kurki, Padhraig Gormley, Sha Tang, Sitao Wu, Saskia Biskup, Annapurna Poduri, Bernd A. Neubauer, Bobby P. C. Koeleman, Katherine L. Helbig, Yvonne G. Weber, Ingo Helbig, Amit R. Majithia, Aarno Palotie, Mark J. Daly

المصدر: Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2020)

مصطلحات موضوعية: Paralogs, Gene family, Conservation, Missense variants, Neurodevelopmental disorders, Medicine, Genetics, QH426-470

Relation: http://link.springer.com/article/10.1186/s13073-020-00725-6; https://doaj.org/toc/1756-994X; https://doaj.org/article/45a19bc663e847f68db119e08f35c85f

الاتاحة: https://doi.org/10.1186/s13073-020-00725-6
https://doaj.org/article/45a19bc663e847f68db119e08f35c85f

المؤلفون: Arthur, Stefanski, Eduardo, Pérez-Palma, Marko, Mrdjen, Megan, McHugh, Costin, Leu, Dennis, Lal

المصدر: Genetics in Medicine. 24:729-735

مصطلحات موضوعية: Genome, Phenotype, DNA Copy Number Variations, Humans, Haploinsufficiency, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb233382ce9a31836cb48ad2b8e00a07
https://doi.org/10.1016/j.gim.2021.10.026

المؤلفون: Marie Macnee, Eduardo Pérez-Palma, Tobias Brünger, Chiara Klöckner, Konrad Platzer, Arthur Stefanski, Ludovica Montanucci, Allan Bayat, Maximilian Radtke, Ryan L Collins, Michael Talkowski, Daniel Blankenberg, Rikke S Møller, Johannes R Lemke, Michael Nothnagel, Patrick May, Dennis Lal

المساهمون: Fonds National de la Recherche - FnR [sponsor], DFG [sponsor], BMBF [sponsor], Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Fonds National de la Recherche - FnR

مصطلحات موضوعية: Statistics and Probability, Copy number variation, CNV, Genomics, Web browser, Biochemistry, eye diseases, Computer Science Applications, Computational Mathematics, Computational Theory and Mathematics, ACMG, Variant classification, Genetics & genetic processes [F10] [Life sciences], Génétique & processus génétiques [F10] [Sciences du vivant], Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78bb4b02cd1a3af0d6add11a035c18cc
http://orbilu.uni.lu/handle/10993/54940

المؤلفون: Yuri A. Zarate, Katherine Bosanko, Amrit Kannan, Ashlen Thomason, Beth Nutt, Nihit Kumar, Kirt Simmons, Aaron Hiegert, Larry Hartzell, Adam Johnson, Tabitha Prater, Eduardo Pérez-Palma, Tobias Brünger, Arthur Stefanski, Dennis Lal, Aisling R. Caffrey

Relation: https://doi.org/10.1155/2023/8200176

الاتاحة: https://doi.org/10.1155/2023/8200176

المؤلفون: Marie Macnee, Eduardo Pérez-Palma, Javier A. López-Rivera, Alina Ivaniuk, Patrick May, Rikke S. Møller, Dennis Lal

المساهمون: Fonds National de la Recherche - FnR [sponsor], BMBF [sponsor], Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]

مصطلحات موضوعية: Literature review, Epilepsy, Neurologie [D14] [Sciences de la santé humaine], Pédiatrie [D19] [Sciences de la santé humaine], Neurology [D14] [Human health sciences], Pediatrics [D19] [Human health sciences], Variant function, General Medicine, monogenic, Pediatrics, Perinatology and Child Health, Genetics, Neurology (clinical), Genetics & genetic processes [F10] [Life sciences], Epilepsy genes, Génétique & processus génétiques [F10] [Sciences du vivant]

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d09461c0c1a7a81a55b32daa232cde2
http://orbilu.uni.lu/handle/10993/53119

المؤلفون: Tobias Brünger, Eduardo Pérez-Palma, Ludovica Montanucci, Michael Nothnagel, Rikke S Møller, Stephanie Schorge, Sameer Zuberi, Joseph Symonds, Johannes R Lemke, Andreas Brunklaus, Stephen F Traynelis, Patrick May, Dennis Lal

المساهمون: Fonds National de la Recherche - FnR [sponsor], Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]

مصطلحات موضوعية: Neurologie [D14] [Sciences de la santé humaine], neurodevelopmental disorders, Neurology [D14] [Human health sciences], ion channel, epilepsy, genetics, Neurology (clinical), bioinformatics, Genetics & genetic processes [F10] [Life sciences], Génétique & processus génétiques [F10] [Sciences du vivant]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce73434bb1e27b01f04040599176b2af
https://doi.org/10.1101/2022.03.23.485339

المؤلفون: Andreas Brunklaus, Eduardo Pérez-Palma, Ismael Ghanty, Ji Xinge, Eva Brilstra, Berten Ceulemans, Nicole Chemaly, Iris de Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke S. Møller, Rima Nabbout, Brigid M. Regan, Amy L. Schneider, Ingrid E. Scheffer, An-Sofie Schoonjans, Joseph D. Symonds, Sarah Weckhuysen, Michael W. Kattan, Sameer M. Zuberi, Dennis Lal

المصدر: Brunklaus, A, Pérez-Palma, E, Ghanty, I, Xinge, J, Brilstra, E, Ceulemans, B, Chemaly, N, de Lange, I, Depienne, C, Guerrini, R, Mei, D, Møller, R S, Nabbout, R, Regan, B M, Schneider, A L, Scheffer, I E, Schoonjans, A S, Symonds, J D, Weckhuysen, S, Kattan, M W, Zuberi, S M & Lal, D 2022, ' Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies ', Neurology, vol. 98, no. 11, pp. e1163-e1174 . https://doi.org/10.1212/WNL.0000000000200028
Neurology

مصطلحات موضوعية: Epilepsy, NAV1.1 Voltage-Gated Sodium Channel/genetics, Epilepsies, Myoclonic/diagnosis, Medizin, Epilepsies, Myoclonic, NAV1.1 Voltage-Gated Sodium Channel, Cohort Studies, Early Diagnosis, Mutation, Humans, Neurology (clinical), Human medicine, Epilepsy/diagnosis, Child, Research Article, Retrospective Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ea97032f3619e914f9a8945895d4d44
https://portal.findresearcher.sdu.dk/da/publications/8c71508b-2124-41dd-a571-4b1c9905809d

المؤلفون: Javier A López-Rivera, Costin Leu, Marie Macnee, Jean Khoury, Lucas Hoffmann, Roland Coras, Katja Kobow, Nisha Bhattarai, Eduardo Pérez-Palma, Hajo Hamer, Sebastian Brandner, Karl Rössler, Christian G Bien, Thilo Kalbhenn, Tom Pieper, Till Hartlieb, Elizabeth Butler, Giulio Genovese, Kerstin Becker, Janine Altmüller, Lisa-Marie Niestroj, Lisa Ferguson, Robyn M Busch, Peter Nürnberg, Imad Najm, Ingmar Blümcke, Dennis Lal

المصدر: Brain : a journal of neurology.

مصطلحات موضوعية: Neurology (clinical), Technology Platforms

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29df8d40b51958bddcf1bdbe78c493e7
https://pubmed.ncbi.nlm.nih.gov/36226386

المؤلفون: Eduardo Pérez-Palma, Lisa-Marie Niestroj, Miguel Inca-Martínez, Camilo Villaman, Elif Irem Sarihan, Dennis Lal, Ignacio Mata

المصدر: Neuromethods ISBN: 9781071623565

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6537a4ee99a26b8dc19b2dd7b8efc89a
https://doi.org/10.1007/978-1-0716-2357-2_10

المؤلفون: Dennis Lal, Daniel Blankenberg, Marie Gramm, Sarah M Schumacher-Bass, Costin Leu, Jarrod E. Dalton, Eduardo Pérez-Palma

المصدر: Bioinformatics. 37:4285-4287

مصطلحات موضوعية: Statistics and Probability, Supplementary data, 0303 health sciences, R software, Information retrieval, Test data generation, business.industry, Computer science, 030302 biochemistry & molecular biology, Interactive analysis, Biochemistry, Computer Science Applications, Visualization, Set (abstract data type), 03 medical and health sciences, Computational Mathematics, Text mining, Workflow, Computational Theory and Mathematics, Web application, Unsupervised learning, Line (text file), business, Molecular Biology, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fb818df719afecc81efc41aee72ceac
https://doi.org/10.1093/bioinformatics/btab365

المؤلفون: Eduardo Pérez-Palma, Andreas Brunklaus, Sumaiya Iqbal, Costin Leu, Dennis Lal, Marie Gramm

المصدر: European Journal of Paediatric Neurology. 24:35-39

مصطلحات موضوعية: Big Data, Developmental Disabilities, Genomic research, Big data, Disease, Computational biology, Biology, Pediatrics, Translational Research, Biomedical, symbols.namesake, Epilepsy, Biomedical data, medicine, Humans, Set (psychology), Drug discovery, business.industry, Genomics, General Medicine, medicine.disease, Pediatrics, Perinatology and Child Health, Mendelian inheritance, symbols, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a6e7a638dd8a6232bc407e169cd178a
https://doi.org/10.1016/j.ejpn.2019.12.001

المؤلفون: Juan Francisco Miquel, Stephan Buch, Uwe Völker, Wolfgang Lieb, Georg Homuth, Mohammad R. Toliat, Lorena Azocar, Clemens Schafmayer, Peter Ahnert, Dennis Lal, Klaus Puschel, Bernabé I. Bustos, Peter Nürnberg, Jochen Hampe, Eduardo Pérez-Palma, Giancarlo V. De Ferrari, Markus M. Lerch, Henry Völzke, Sebastian Hinz, Rodrigo A. Gutiérrez, Greta Burmeister, Andre Franke, Witigo von Shönfels

المصدر: European Journal of Human Genetics

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, Disease, Gallstones, Biology, Article, 03 medical and health sciences, Sex Factors, Cholelithiasis, Genetics, medicine, Humans, Copy-number variation, Gene, Genetics (clinical), Aged, 0303 health sciences, 030305 genetics & heredity, nutritional and metabolic diseases, Lipid metabolism, Heritability, Middle Aged, medicine.disease, Lipid Metabolism, Sex specific, Cohort, Female, Structural variation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b0a26e7908b2fdb8d996db8895a2a82
http://europepmc.org/articles/PMC6974590