المؤلفون: Kathrin Arndts, Josua Kegele, Manuel Ritter, Clarissa Prazeres da Costa, Achim Hoerauf, Andrea S Winkler

المصدر: PLoS Neglected Tropical Diseases, Vol 18, Iss 5, p e0012076 (2024)

مصطلحات موضوعية: Arctic medicine. Tropical medicine, RC955-962, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

العلاقة: https://journals.plos.org/plosntds/article/file?id=10.1371/journal.pntd.0012076&type=printableTest; https://doaj.org/toc/1935-2727Test; https://doaj.org/toc/1935-2735Test

الوصول الحر: https://doaj.org/article/bec80b3326ca419e823f82cc1ba6c35bTest

المؤلفون: Johanna Krüger, Julian Schubert, Josua Kegele, Audrey Labalme, Miaomiao Mao, Jacqueline Heighway, Guiscard Seebohm, Pu Yan, Mahmoud Koko, Kezban Aslan-Kara, Hande Caglayan, Bernhard J. Steinhoff, Yvonne G. Weber, Pascale Keo-Kosal, Samuel F. Berkovic, Michael S. Hildebrand, Steven Petrou, Roland Krause, Patrick May, Gaetan Lesca, Snezana Maljevic, Holger Lerche

المصدر: EBioMedicine, Vol 84, Iss , Pp 104244- (2022)

مصطلحات موضوعية: KCNQ5, Genetic generalized epilepsy, Exome sequencing, Loss-of-function, Patch-clamp, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2352396422004261Test; https://doaj.org/toc/2352-3964Test

الوصول الحر: https://doaj.org/article/aa9f823e4e9b426daf63245606235ec0Test

المؤلفون: Richard Drexler, Sharona Ben-Haim, Christian G. Bien, Valeri Borger, Francesco Cardinale, Alexandre Carpentier, Fernando Cendes, Sarat Chandra, Hans Clusmann, Albert Colon, Marco de Curtis, Daniel Delev, Giuseppe Didato, Lasse Dührsen, Jibril Osman Farah, Marc Guenot, Saadi Ghatan, Claire Haegelen, Hajo Hamer, Jason S. Hauptmann, Rosalind L. Jeffree, Thilo Kalbhenn, Josua Kegele, Niklaus Krayenbühl, Johannes Lang, Bertrand Mathon, Georgios Naros, Julia Onken, Fedor Panov, Christian Raftopoulos, Franz L. Ricklefs, Kim Rijkers, Michele Rizzi, Karl Rössler, Olaf Schijns, Ulf C. Schneider, Andrea Spyrantis, Adam Strzelczyk, Stefan Stodieck, Manjari Tripathi, Sumeet Vadera, Mario A. Alonso-Vanegas, José Géraldo Ribero Vaz, Jörg Wellmer, Tim Wehner, Manfred Westphal, Thomas Sauvigny

المصدر: Frontiers in Neurology, Vol 12 (2021)

مصطلحات موضوعية: epilepsy, epilepsy surgery, temporal lobe epilepsy, outcome, benchmark, seizure outcome, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2021.782666/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/191e337f31c249ed93061fa1eb5ff1feTest

المؤلفون: Stephan Lauxmann, Lukas Sonnenberg, Nils A. Koch, Christian Bosselmann, Natalie Winter, Niklas Schwarz, Thomas V. Wuttke, Ulrike B. S. Hedrich, Yuanyuan Liu, Holger Lerche, Jan Benda, Josua Kegele

المصدر: Frontiers in Neurology, Vol 12 (2021)

مصطلحات موضوعية: episodic ataxia, sodium channel blockers, KV1.1, conduction-based model, voltage-gated potassium channels, riluzole, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2021.703970/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/20e94abcd4a240c4ab74bc5d56dc90b3Test

المؤلفون: Josua Kegele, Johanna Krüger, Mahmoud Koko, Lara Lange, Ana Victoria Marco Hernandez, Francisco Martinez, Alexander Münchau, Holger Lerche, Stephan Lauxmann

المصدر: Frontiers in Neurology, Vol 12 (2021)

مصطلحات موضوعية: paroxysmal dyskinesia, paroxysmal kinesiogenic dyskinesia, paroxysmal exercise induced dyskinesia, KCNA1, SLC2A1, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2021.701351/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/975ab79079b04131b803192f5e683d1aTest

المؤلفون: Anna-Sophie Grimm, Charlotte Schubert, Alexander Grimm, Jan-Hendrik Stahl, Hanna Küpper, Veronka Horber, Josua Kegele, Sophia Willikens, Julia Wittlinger, Lina Serna-Higuita, Natalie Winter, Samuel Groeschel

المصدر: Frontiers in Neurology, Vol 11 (2020)

مصطلحات موضوعية: nerve ultrasound, children neuropathy, reference values, lysosomal storage diseases, nerve imaging, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2020.00303/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/4520057ad8c04a0ba36b3c8de04b8fd0Test

المؤلفون: Magdalena Kramer, Alexander Grimm, Natalie Winter, Marc Dörner, Kathrin Grundmann-Hauser, Jan-Hendrik Stahl, Julia Wittlinger, Josua Kegele, Cornelius Kronlage, Sophia Willikens

المصدر: Diagnostics, Vol 11, Iss 2, p 211 (2021)

مصطلحات موضوعية: high-resolution nerve ultrasound, peripheral nerve imaging, demyelinating polyneuropathies, hereditary polyneuropathies, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2075-4418/11/2/211Test; https://doaj.org/toc/2075-4418Test

الوصول الحر: https://doaj.org/article/2c2e34a21f1f40a399ae5ada3092d492Test

المؤلفون: Roseline Caume, M Scott Perry, Massimo Mastrangelo, Margarete Koch-Hogrebe, Pasquale Striano, Karen Müller-Schlüter, Petra Laššuthová, Monisa D. Wagner, Ingo Helbig, Stephan Lauxmann, Emmanuel Scalais, Marie-Cécile Nassogne, Silvia Masnada, Henrike O. Heyne, Konrad Platzer, Frederic Bilan, Chloe A Stutterd, Sonja Walsh, Katrine M Johannesen, Damien Lederer, Ngoc Minh Le, Christina Fenger, Daniel Tibussek, Lukas Sonnenberg, Andrea Berger, Yuanyuan Liu, Mikhail Abramov, Karen E. Wain, Sergey Korostelev, P Y Billie Au, Elena L. Dadali, An-Sofie Schoonjans, Cornelia Betzler, Artem Borovikov, Johanna Krüger, Maert Rannap, Sebastian Lebon, Nils A Koch, Nancy Eisenhauer, Judith Kroell-Seger, Julian Schubert, Marije Meuwissen, Caroline Lund, Mark Fitzgerald, Federico Zara, Siddharth Srivastava, Claudia M Bonardi, Pia Zacher, Haim Bassan, Arve Vøllo, Katherine B. Howell, Francesca Darra, Guido Rubboli, Stephen W. Scherer, Bénédicte Gérard, Stefano Sartori, Annapurna Poduri, Helene Verhelst, Katalin Sterbova, Mathilde Nizon, Marketa Vlckova, Christina E. Hoei-Hansen, Renzo Guerrini, Ilya V. Kanivets, Juliann M. Savatt, Johannes Rebstock, Jakob Christensen, Cecilia Altuzarra, Dennis Lal, Judith S. Verhoeven, Agathe Roubertie, Constanze Heine, Dagmar Wieczorek, Ingo Borggraefe, Aster V. E. Harder, Anne Destrée, Wen-Hann Tan, Tobias Brünger, Shoji Ichikawa, Laura Canafoglia, Mahmoud Koko, Sergey Kutsev, Sabine Grønborg, Patrizia Accorsi, Heather E. Olson, Bert van der Zwaag, Cathrine E Gjerulfsen, Patrick May, A. A. Sharkov, M. Mahdi Motazacker, Manuela Pendziwiat, Richard J. Leventer, Anna Jansen, Lucio Giordano, Holger Lerche, Carla Marini, Karl Martin Klein, Eva H. Brilstra, Ahmed Eltokhi, Ethan M. Goldberg, Walid Fazeli, Rikke S. Møller, Dorota Hoffman-Zacharska, Michael Alber, Susanne Ruf, Jennifer L. Howe, Phillis Lakeman, Josua Kegele, Katherine L. Helbig, Marga Buzatu, Alice W Ho, Jan Benda, Ilona Krey, Marion Gérard, Sara Matricardi, Thomas U. Mayer, Philippe Gelisse, Jong M. Rho, Johannes R. Lemke, Pierangelo Veggiotti, Tobias Loddenkemper, Gaetan Lesca, Ulrike B. S. Hedrich, Silvana Franceschetti, Elena Gardella, Irina Mishina, María Vaccarezza, Timo Roser

المساهمون: Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, Neuroprotection & Neuromodulation, Pediatrics, Human Genetics, ANS - Complex Trait Genetics, ARD - Amsterdam Reproduction and Development, Human genetics, Amsterdam Reproduction & Development (AR&D)

المصدر: Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321Test
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain : a journal of neurology, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321Test
Brain
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B N, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321Test
Brain, 145(9), 2991-3009. Oxford University Press

مصطلحات موضوعية: medicine.medical_specialty, SCN8A, Gastroenterology, Epilepsy, Sodium channel blocker, Neurodevelopmental disorder, Seizures, Intellectual Disability, Internal medicine, medicine, Humans, Missense mutation, genetics, Generalized epilepsy, Genetic Association Studies, Benign familial infantile epilepsy, Generalized, business.industry, Infant, personalized medicine, Prognosis, medicine.disease, Phenotype, Settore MED/39 - Neuropsichiatria Infantile, NAV1.6 Voltage-Gated Sodium Channel, Mutation, epilepsy, Original Article, Epilepsy, Generalized, Human medicine, Neurology (clinical), Age of onset, business, Epileptic Syndromes, Sodium Channel Blockers

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75d3de186f73a35fb1500a80403bc648Test
https://doi.org/10.1093/brain/awab321Test

المؤلفون: Rajarshi Mazumder, David Kitara Lagoro, Hiroki Nariai, Alberto Danieli, Dawn Eliashiv, Jerome Engel, Bernardo Dalla Bernardina, Josua Kegele, Holger Lerche, James Sejvar, William Matuja, Erich Schmutzhard, Paolo Bonanni, Gianni De Polo, Thomas Wagner, Andrea Sylvia Winkler

المصدر: Annals of neurology, vol 92, iss 1

مصطلحات موضوعية: Pediatric, Neurology & Neurosurgery, Clinical Sciences, Neurosciences, Electroencephalography, Tanzania, Nodding Syndrome, Brain Disorders, Mental Health, Neurology, Clinical Research, Humans, Uganda, Neurology (clinical), South Sudan

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c47dbc2800cb0a8e1b43e631a79b05d1Test
https://doi.org/10.1002/ana.26377Test

المؤلفون: Holger Lerche, Julian Schubert, Bernhard J. Steinhoff, Gaetan Lesca, Kezban Aslan, Audrey Labalme, Josua Kegele, Pu Yan, Johanna Krueger, Snezana Maljevic, Hande Caglayan, Miaomiao Mao, Yvonne G. Weber, Guiscard Seebohm, Patrick May, Samuel F. Berkovic, Jaqueline Heighway, Roland Krause, Pascale Keo-Kosal, Steven Petrou, Michael S. Hildebrand, Mahmoud Koko

مصطلحات موضوعية: Genetics, Epilepsy, RNA splicing, Mutant, medicine, Missense mutation, Gating, Homology modeling, Biology, medicine.disease, Gene, Loss function

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8ff2aa84ebb9a45f44aa0c85bc23dae4Test
https://doi.org/10.1101/2021.04.20.21255696Test