المؤلفون: Ludovica Montanucci, David Lewis-Smith, Ryan L. Collins, Lisa-Marie Niestroj, Shridhar Parthasarathy, Julie Xian, Shiva Ganesan, Marie Macnee, Tobias Brünger, Rhys H. Thomas, Michael Talkowski, Epi25 Collaborative, Ingo Helbig, Costin Leu, Dennis Lal

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/5f673f8d63e1481fb289b59e8453a1eeTest

المؤلفون: Christian Malte Boßelmann, Ulrike B.S. Hedrich, Peter Müller, Lukas Sonnenberg, Shridhar Parthasarathy, Ingo Helbig, Holger Lerche, Nico Pfeifer

المصدر: EBioMedicine, Vol 81, Iss , Pp 104115- (2022)

مصطلحات موضوعية: Potassium channel, Ion channel, Electrophysiology, Machine learning, Multi-task learning, Support vector machine, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2352396422002961Test; https://doaj.org/toc/2352-3964Test

الوصول الحر: https://doaj.org/article/972d7c8f79dc47cb8c5501671631f4cdTest

المؤلفون: Donna Schaare, Sara M. Sarasua, Laina Lusk, Shridhar Parthasarathy, Liangjiang Wang, Ingo Helbig, Luigi Boccuto

المصدر: Genes, Vol 14, Iss 2, p 400 (2023)

مصطلحات موضوعية: CACNA1A, CACNA1F, channelopathy, calcium channel, hemiplegic migraine, sporadic hemiplegic migraine type 1 (SHM1), Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/14/2/400Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/62fe985cac444c1c8b8496e39af43623Test

المؤلفون: Jérôme Clatot, Shridhar Parthasarathy, Stacey Cohen, Jillian L. McKee, Shavonne Massey, Ala Somarowthu, Ethan M. Goldberg, Ingo Helbig

المصدر: Epilepsia. 64:1318-1330

مصطلحات موضوعية: Neurology, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9aab1a1d01cae183084a387a674da5cfTest
https://doi.org/10.1111/epi.17444Test

المؤلفون: Julie Xian, Shridhar Parthasarathy, Sarah M Ruggiero, Ganna Balagura, Eryn Fitch, Katherine Helbig, Jing Gan, Shiva Ganesan, Michael C Kaufman, Colin A Ellis, David Lewis-Smith, Peter Galer, Kristin Cunningham, Margaret O’Brien, Mahgenn Cosico, Kate Baker, Alejandra Darling, Fernanda Veiga de Goes, Christelle M El Achkar, Jan Henje Doering, Francesca Furia, Ángeles García-Cazorla, Elena Gardella, Lisa Geertjens, Courtney Klein, Anna Kolesnik-Taylor, Hanna Lammertse, Jeehun Lee, Alexandra Mackie, Mala Misra-Isrie, Heather Olson, Emma Sexton, Beth Sheidley, Lacey Smith, Luiza Sotero, Hannah Stamberger, Steffen Syrbe, Kim Marie Thalwitzer, Annemiek van Berkel, Mieke van Haelst, Christopher Yuskaitis, Sarah Weckhuysen, Ben Prosser, Charlene Son Rigby, Scott Demarest, Samuel Pierce, Yuehua Zhang, Rikke S Møller, Hilgo Bruining, Annapurna Poduri, Federico Zara, Matthijs Verhage, Pasquale Striano, Ingo Helbig

المساهمون: Child and Adolescent Psychiatry & Psychosocial Care, APH - Digital Health, APH - Mental Health, VU University medical center, Clinical genetics, Amsterdam Reproduction & Development, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Xian, Julie [0000-0002-0205-0648], Ruggiero, Sarah M [0000-0002-0834-0750], Balagura, Ganna [0000-0003-0212-8318], Helbig, Katherine [0000-0001-8249-0549], Kaufman, Michael C [0000-0003-2718-296X], Lewis-Smith, David [0000-0002-1735-8178], Gardella, Elena [0000-0002-7138-6022], Olson, Heather [0000-0002-5385-0119], Weckhuysen, Sarah [0000-0003-2878-1147], Verhage, Matthijs [0000-0002-5452-5000], Helbig, Ingo [0000-0001-8486-0558], Apollo - University of Cambridge Repository, Human genetics, Amsterdam Reproduction & Development (AR&D), Functional Genomics

المصدر: Brain, 145(5), 1668-1683. Oxford University Press
Xian, J, Parthasarathy, S, Ruggiero, S M, Balagura, G, Fitch, E, Helbig, K, Gan, J, Ganesan, S, Kaufman, M C, Ellis, C A, Lewis-Smith, D, Galer, P, Cunningham, K, O'Brien, M, Cosico, M, Baker, K, Darling, A, Veiga de Goes, F, El Achkar, C M, Doering, J H, Furia, F, García-Cazorla, Á, Gardella, E, Geertjens, L, Klein, C, Kolesnik-Taylor, A, Lammertse, H, Lee, J, Mackie, A, Misra-Isrie, M, Olson, H, Sexton, E, Sheidley, B, Smith, L, Sotero, L, Stamberger, H, Syrbe, S, Thalwitzer, K M, van Berkel, A, van Haelst, M, Yuskaitis, C, Weckhuysen, S, Prosser, B, Son Rigby, C, Demarest, S, Pierce, S, Zhang, Y, Møller, R S, Bruining, H, Poduri, A, Zara, F, Verhage, M, Striano, P & Helbig, I 2022, ' Assessing the landscape of STXBP1-related disorders in 534 individuals ', Brain : a journal of neurology, vol. 145, no. 5, pp. 1668-1683 . https://doi.org/10.1093/brain/awab327Test
Xian, J, Parthasarathy, S, Ruggiero, S M, Balagura, G, Fitch, E, Helbig, K, Gan, J, Ganesan, S, Kaufman, M C, Ellis, C A, Lewis-Smith, D, Galer, P, Cunningham, K, O'Brien, M, Cosico, M, Baker, K, Darling, A, Veiga de Goes, F, el Achkar, C M, Doering, J H, Furia, F, García-Cazorla, Á, Gardella, E, Geertjens, L, Klein, C, Kolesnik-Taylor, A, Lammertse, H, Lee, J, Mackie, A, Misra-Isrie, M, Olson, H, Sexton, E, Sheidley, B, Smith, L, Sotero, L, Stamberger, H, Syrbe, S, Thalwitzer, K M, van Berkel, A, van Haelst, M, Yuskaitis, C, Weckhuysen, S, Prosser, B, Son Rigby, C, Demarest, S, Pierce, S, Zhang, Y, Møller, R S, Bruining, H, Poduri, A, Zara, F, Verhage, M, Striano, P & Helbig, I 2022, ' Assessing the landscape of STXBP1-related disorders in 534 individuals ', Brain, vol. 145, no. 5, pp. 1668-1683 . https://doi.org/10.1093/brain/awab327Test
BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Brain : a journal of neurology, 145(5), 1668-1683. Oxford University Press
Brain

مصطلحات موضوعية: 0303 health sciences, STXBP1, Human Phenotype Ontology, developmental and epileptic encephalopathy, epilepsy, genetics, Electroencephalography, Humans, Infant, Munc18 Proteins, Retrospective Studies, Seizures, Epilepsy, Spasms, Infantile, Infantile, Spasms, 03 medical and health sciences, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Human medicine, Neurology (clinical), 030217 neurology & neurosurgery, 030304 developmental biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::151b25ac565ddc4ef4cb44137115e932Test
http://www.scopus.com/inward/record.url?scp=85127359568&partnerID=8YFLogxKTest

المؤلفون: Peter D. Galer, Shridhar Parthasarathy, Julie Xian, Jillian L. McKee, Sarah M. Ruggiero, Shiva Ganesan, David Lewis-Smith, Michael C. Kaufman, Stacey R. Cohen, Scott Haag, Alexander K. Gonzalez, Olivia Wilmarth, Colin A. Ellis, Brian Litt, Ingo Helbig

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::36e840f1101ac38263f61927f8b338f2Test
https://doi.org/10.1101/2022.12.08.22283226Test

المؤلفون: Margaret O'Brien, Shridhar Parthasarathy, Eryn Fitch, Ingo Helbig, Roland Krause, Shiva Ganesan, Veronica Codoni, Katherine Crawford, Deanne Taylor, Colin A Ellis, Julie Xian, Peter D. Galer, David Lewis-Smith, Katherine L. Helbig, Michael C. Kaufman, Laura Conway

المصدر: Genetics in Medicine

مصطلحات موضوعية: NAV1.2 Voltage-Gated Sodium Channel, Infant, Newborn, Neonatal onset, Computational biology, Biology, medicine.disease, Phenotype, Article, Epileptic spasms, Seizures, Human Phenotype Ontology, medicine, Humans, Missense mutation, Autism, Computational analysis, Spasms, Infantile, Genetic Association Studies, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb5e4ae9a9e2de3de283b91378c05449Test
https://doi.org/10.1038/s41436-021-01120-1Test

المؤلفون: Maryam Daniali, Peter D. Galer, David Lewis-Smith, Shridhar Parthasarathy, Edward Kim, Dario D. Salvucci, Jeffrey M. Miller, Scott Haag, Ingo Helbig

مصطلحات موضوعية: Artificial Intelligence, Medicine (miscellaneous)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6e9bf61a8f8fbe0f7d8da73b3889919Test
https://doi.org/10.1101/2022.07.20.500809Test

المؤلفون: Jérôme Clatot, Shridhar Parthasarathy, Stacey Cohen, Jillian McKee, Shavonne Massey, Ala Somarowthu, Ethan M. Goldberg, Ingo Helbig

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::86cdeaabb441057798caefb51303cefeTest
https://doi.org/10.1101/2022.06.29.498154Test

المؤلفون: Shridhar Parthasarathy, Sarah M Ruggiero, Antoinette Gelot, Fernanda C Soardi, Bethânia F R Ribeiro, Douglas E V Pires, David B Ascher, Alain Schmitt, Caroline Rambaud, Hongbo M Xie, Laina Lusk, Olivia Wilmarth, Pamela Pojomovsky McDonnell, Olivia A Juarez, Alexandra N Grace, Julien Buratti, Cyril Mignot, Domitille Gras, Caroline Nava, Samuel R Pierce, Boris Keren, Benjamin C Kennedy, Sergio D J Pena, Ingo Helbig, Vishnu Anand Cuddapah

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8eeaf7f665906b9dfae300d539e945ecTest
https://doi.org/10.1101/2022.06.02.492389Test