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1دورية أكاديمية
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
وصف الملف: electronic resource
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2The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
المؤلفون: Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mihaela-Adela Vintan, Joseph Symonds, James Andrew, Alexis Arzimanoglou, Sarah Delima, Julie Gallois, Donncha Hanrahan, Gaetan Lesca, Stewart MacLeod, Dragan Marjanovic, Amy McTague, Noemi Nuñez-Enamorado, Eduardo Perez-Palma, M Scott Perry, Karen Pysden, Sophie J Russ-Hall, Ingrid E Scheffer, Krystal Sully, Steffen Syrbe, Ulvi Vaher, Murugan Velayutham, Julie Vogt, Shelly Weiss, Elaine Wirrell, Sameer M Zuberi, Dennis Lal, Rikke S Møller, Massimo Mantegazza, Sandrine Cestèle
المصدر: BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instnameمصطلحات موضوعية: Arthrogryposis, Epilepsy, Movement Disorders, gain of function, Migraine with Aura, Infant, Newborn, Infant, Epilepsies, Myoclonic, arthrogryposis, NAV1.1 Voltage-Gated Sodium Channel, Phenotype, Gain of Function Mutation, epilepsy, Humans, SCN1A, movement disorder, Neurology (clinical), Spasms, Infantile
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28d78f9a1dfb34105b40b0c635c1e599
https://doi.org/10.1093/brain/awac210 -
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المؤلفون: Elizabeth Buttermore, Stormy Chamberlain, Jannine Cody, Gregory Costain, Louis Dang, Andrew DeWoody, Yssa DeWoody, Kira Dies, Evan Eichler, Santhosh Girirajan, Marie Gramm, Alycia Halladay, Dennis Lal, Matthew Lalli, Tess Levy, Glennis Logsdon, Daniel Lowenstein, Heather Mefford, Jennifer Mulle, Alysson Muotri, Melissa Murphy, Eduardo Perez Palma, Stefan Pinter, Rebecca Pollak, Ryan Purcell, Rodney Samaco, Bina Shah, Karun Singh, Joyce So, Maria Sundberg, Surabi Veeraragavan, Vanessa Vogel-Farley, Anthony Wynshaw-Boris
المصدر: Am J Hum Genet
مصطلحات موضوعية: Genome, Phenotype, DNA Copy Number Variations, Neurodevelopmental Disorders, Perspective, Genetics, Humans, Patient Advocacy, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0540d7d6b7ef8fac51990e15ee9abe10
https://europepmc.org/articles/PMC9388383/ -
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المؤلفون: Andreas Brunklaus, Tony Feng, Tobias Brünger, Eduardo Perez-Palma, Henrike Heyne, Emma Matthews, Christopher Semsarian, Joseph D Symonds, Sameer M Zuberi, Dennis Lal, Stephanie Schorge
المساهمون: Institute for Molecular Medicine Finland
مصطلحات موضوعية: Mammals, SCN8A, MEXILETINE, Epilepsy, SEVERE MYOCLONIC EPILEPSY, MUTATIONS, MEDICINE, 3112 Neurosciences, CHANNEL DEFECTS, Peripheral Nervous System Diseases, Voltage-Gated Sodium Channels, 3124 Neurology and psychiatry, Phenotype, SYSTEMS, NOMENCLATURE, Animals, EXTREME PAIN DISORDER, Channelopathies, SCN1A, Neurology (clinical), SCN2A, GAIN, CLINICAL SPECTRUM, SCN4A, SCN5A
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a00c6c7331dd9e1accf213b138345e3a
https://openaccess.sgul.ac.uk/id/eprint/114247/1/awac006.pdf -
5دورية أكاديمية
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
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6دورية أكاديميةP369: SATB2-associated syndrome severity score: Genotype/phenotype correlations and the SATB2 portal
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)
وصف الملف: electronic resource
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المؤلفون: Giancarlo V, De Ferrari, Miguel E, Avila, Matias A, Medina, Eduardo, Perez-Palma, Bernabe I, Bustos, Marcelo A, Alarcon
المصدر: CNSneurological disorders drug targets. 13(5)
مصطلحات موضوعية: Wnt Proteins, Alzheimer Disease, Animals, Brain, Humans, Wnt Signaling Pathway, beta Catenin
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::255f9a1773e575558321b283be4b1ad5
https://pubmed.ncbi.nlm.nih.gov/24365184 -
8دورية أكاديمية
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
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9دورية أكاديمية
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
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10دورية أكاديمية
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