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المؤلفون: Marina Trivisano, Nicola Specchio, Christel Depienne, Lynette G. Sadleir, Raman Kumar, Kristy L. Kolc, Jozef Gecz, Ingrid E. Scheffer, Duyen H. Pham, Rachel M. Roberts, Rikke S. Møller, Carla Marini
المصدر: Translational Psychiatry, Vol 10, Iss 1, Pp 1-9 (2020)
Translational Psychiatry
Kolc, K L, Sadleir, L G, Depienne, C, Marini, C, Scheffer, I E, Møller, R S, Trivisano, M, Specchio, N, Pham, D, Kumar, R, Roberts, R & Gecz, J 2020, ' A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy ', Translational Psychiatry, vol. 10, 127 . https://doi.org/10.1038/s41398-020-0803-0Testمصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, Autism Spectrum Disorder, Genetic counseling, Medizin, Article, lcsh:RC321-571, 03 medical and health sciences, Cellular and Molecular Neuroscience, Epilepsy, 0302 clinical medicine, Patient-Centered Care, Human behaviour, Genotype, Cluster Analysis, Humans, Medicine, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Biological Psychiatry, business.industry, Strengths and Difficulties Questionnaire, Cadherins, medicine.disease, Protocadherins, Psychiatry and Mental health, Behavior Rating Inventory of Executive Function, Phenotype, 030104 developmental biology, Autism spectrum disorder, Cohort, Female, Psychiatric disorders, business, 030217 neurology & neurosurgery, Executive dysfunction
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf56aae8636a55426366131835291359Test
http://link.springer.com/article/10.1038/s41398-020-0803-0Test -
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المؤلفون: Manju A Kurian, Rosemary Burgess, Yue-Hua Zhang, Shuyu Wang, Heather C. Mefford, Katja E. Boysen, Lynette G. Sadleir, Xiaoling Yang, Marina Trivisano, Amy McTague, Qi Zeng, Ingrid E. Scheffer, Renzo Guerrini, Nicola Specchio, Anne Rochtus, Annapurna Poduri, Deepak Gill, Kenneth A. Myers, Carla Marini
المصدر: Ann Neurol
مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Pediatrics, medicine.medical_specialty, Microcephaly, Movement disorders, Adolescent, Article, Cohort Studies, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Seizures, ATP1A3, Humans, Medicine, Genetic Predisposition to Disease, Child, business.industry, BRAT1, Genetic heterogeneity, Infant, medicine.disease, Epileptic spasms, 030104 developmental biology, Neurology, Child, Preschool, Female, Neurology (clinical), medicine.symptom, business, Spasms, Infantile, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a48326ba29d6802cf66d0057fc6d386eTest
https://doi.org/10.1002/ana.25619Test -
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المؤلفون: Nicola Pietrafusa, Marina Trivisano, Nicola Specchio, Chiara Pepi, Lucia Fusco, Giusy Carfì Pavia, Costanza Calabrese, Simona Cappelletti, Alessandro Ferretti, Paola De Liso, Federico Vigevano, Luca De Palma, Ilaria Tondo, Antonella Benvenga, Marcello Bellusci
المصدر: Epilepsia. 60:2486-2498
مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Internationality, Time Factors, Multivariate analysis, Adolescent, Status epilepticus, Lower risk, 03 medical and health sciences, Epilepsy, Status Epilepticus, 0302 clinical medicine, Interquartile range, medicine, Humans, Child, Retrospective Studies, business.industry, Infant, Newborn, Infant, Electroencephalography, Odds ratio, Prognosis, medicine.disease, Confidence interval, 030104 developmental biology, Neurology, Child, Preschool, Etiology, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::250fae6a927d13faf235ddfcdb4b40dcTest
https://doi.org/10.1111/epi.16385Test -
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المؤلفون: Alessandro Ferretti, Marina Trivisano, Nicola Specchio, Giusy Carfì Pavia, Simona Cappelletti, Costanza Calabrese, Nicola Pietrafusa, Federico Vigevano, Ilaria Tondo, Luca De Palma
المصدر: Pediatric Drugs. 21:283-290
مصطلحات موضوعية: Male, Drug Resistant Epilepsy, Pediatrics, medicine.medical_specialty, Adolescent, medicine.medical_treatment, law.invention, cannabidiol, refractory epilepsie, children, developmental and epileptic encephalopathy, epilepsy, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Randomized controlled trial, Dravet syndrome, law, medicine, Humans, Pharmacology (medical), Prospective Studies, Child, Adverse effect, 030203 arthritis & rheumatology, business.industry, Infant, medicine.disease, Regimen, Tolerability, Child, Preschool, Pediatrics, Perinatology and Child Health, Anticonvulsants, Female, business, Cannabidiol, 030217 neurology & neurosurgery, medicine.drug, Ketogenic diet
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f75b07e958138264cf33da1fe160612dTest
https://doi.org/10.1007/s40272-019-00341-xTest -
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المؤلفون: Renzo Guerrini, Carlo Efisio Marras, Flavio Giordano, Camilla Rossi-Espagnet, Lorenzo Genitori, Carmen Barba, Massimo Cossu, Federico Vigevano, Laura Tassi, Nicola Pietrafusa, Giorgio Lo Russo, Susanna Rizzi, Veronica Pelliccia, Nicola Specchio, Alessandro De Benedictis, Luca De Palma, Francesca Gozzo, Giusy Carfi-Pavia
المصدر: Epilepsy & Behavior. 93:22-28
مصطلحات موضوعية: Adult, Male, Drug Resistant Epilepsy, Hemimegalencephaly, Pediatrics, medicine.medical_specialty, Adolescent, Hemispherectomy, Young Adult, 03 medical and health sciences, Behavioral Neuroscience, Epilepsy, Postoperative Complications, 0302 clinical medicine, Recurrence, medicine, Humans, Epilepsy surgery, 030212 general & internal medicine, Child, Encephalomalacia, Retrospective Studies, business.industry, Infant, Cortical dysplasia, medicine.disease, Treatment Outcome, Italy, Neurology, Child, Preschool, Cohort, Etiology, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7db469698cead6b3a8c5efa3f9d7d981Test
https://doi.org/10.1016/j.yebeh.2019.01.006Test -
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المؤلفون: Elena Cardenal-Muñoz, Igor Prpić, José Ángel Aibar, Isabella Brambilla, Francesca Darra, Nicola Specchio, Irena Bibic, Rima Nabbout, Anne Sophie Hallet
المصدر: Epilepsia Open
Volume 6
Issue 1
Epilepsia Open, Vol 6, Iss 1, Pp 216-224 (2021)مصطلحات موضوعية: Male, BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences, telemedicine, social isolation, Health Behavior, Epilepsies, Myoclonic, Patient advocacy, lcsh:RC346-429, Epilepsy, Surveys and Questionnaires, Pandemic, Short Research Article, Young adult, Social isolation, Child, BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti, Masks, Health Services, Middle Aged, Short Research Articles, Neurology, Caregivers, Child, Preschool, Disease Progression, Female, medicine.symptom, Adult, medicine.medical_specialty, Telemedicine, Adolescent, Physical Distancing, Public Policy, behavior disorders, pandemics, Young Adult, Dravet syndrome, COVID‐19, medicine, Humans, lcsh:Neurology. Diseases of the nervous system, Problem Behavior, business.industry, SARS-CoV-2, Infant, COVID-19, medicine.disease, Clinical trial, Spain, Family medicine, Communicable Disease Control, Neurology (clinical), business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d5853e33ce2711fa4c01d5d1898cd52Test
http://hdl.handle.net/11562/1038771Test -
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المؤلفون: Marina Trivisano, Nicola Specchio, Costanza Calabrese, Riccardo Ricci, Nicola Pietrafusa, Tommaso Renzetti, Federico Vigevano, Massimiliano Raponi, Alessandro Ferretti
المصدر: Epilepsy & Behavior
مصطلحات موضوعية: Male, medicine.medical_specialty, Telemedicine, Adolescent, Clinical Neurology, Telehealth, Brief Communication, Remote consultation, 03 medical and health sciences, Epilepsy, Behavioral Neuroscience, 0302 clinical medicine, Surveys and Questionnaires, Lockdown, Health care, Intellectual disability, Pandemic, Humans, Medicine, 030212 general & internal medicine, Child, Pandemics, Sleep disorder, Remote Consultation, business.industry, Infant, Newborn, COVID-19, Infant, medicine.disease, Caregivers, Italy, Neurology, Child, Preschool, Emergency medicine, Female, Neurology (clinical), business, Pediatric epilepsy, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c4fe7456c91eb380723024c182c129dTest
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المؤلفون: Herm J Lamberink, Willem M Otte, Ingmar Blümcke, Kees P J Braun, Martin Aichholzer, Isabel Amorim, Javier Aparicio, Eleonora Aronica, Alexis Arzimanoglou, Carmen Barba, Jürgen Beck, Albert Becker, Jan C Beckervordersandforth, Christian G Bien, Istvan Bodi, Kees PJ Braun, Helene Catenoix, Francine Chassoux, Mathilde Chipaux, Thomas Cloppenborg, Roland Coras, J Helen Cross, Luca De Palma, Jane De Tisi, Francesco Deleo, Bertrand Devaux, Giancarlo Di Gennaro, Georg Dorfmüller, John S Duncan, Christian Elger, Katharina Ernst, Vincenzo Esposito, Martha Feucht, Zeljka Petelin Gadze, Rita Garbelli, Karin Geleijns, Antonio Gil-Nagel, Alexander Grote, Thomas Grunwald, Renzo Guerrini, Hajo Hamer, Mrinalini Honavar, Thomas S Jacques, Antonia Jakovcevic, Leena Jutila, Adam Kalina, Reetta Kälviäinen, Karl Martin Klein, Kristina Koenig, Pavel Krsek, Manfred Kudernatsch, Martin Kudr, Kristina Malmgren, Petr Marusic, Armen Melikyan, Katja Menzler, Soheyl Noachtar, Çiğdem Özkara, Tom Pieper, Jose Pimentel, Savo Raicevic, Sylvain Rheims, Joana Ribeiro, Felix Rosenow, Karl Rössler, Bertil Rydenhag, Francisco Sales, Victoria San Antonio-Arce, Karl Lothar Schaller, Olaf Schijns, Theresa Scholl, Johannes Schramm, Andreas Schulze-Bonhage, Raf Sciot, Margitta Seeck, Lyudmila Shishkina, Dragoslav Sokic, Nicola Specchio, Tom Theys, Maria Thom, Rafael Toledano Delgado, Joseph Toulouse, Mustafa Uzan, Johannes van Loon, Wim Van Paesschen, Tim J von Oertzen, Floor Jansen, Frans Leijten, Peter van Rijen, Wim GM Spliet, Angelika Mühlebner, Burkhard S Kasper, Susanne Fauser, Tilman Polster, Thilo Kalbhenn, Daniel Delev, Andrew McEvoy, Anna Miserocchi, Elisabeth Landré, Bares Turak, Pascale Varlet, Sarah Ferrand-Sorbets, Martine Fohlen, Christine Bulteau, Anna Edelvik, Mukesch J Shah, Christian Scheiwe, Eva Gutierrez Delicado, Martin Tisdall, Christin Eltze, Serdar Akkol, Kaancan Deniz, Buge Oz, Hans Holthausen, Till Hartlieb, Martin Staudt, Sara Casciato, Pier P Quarato, Felice Giangaspero, Nathalie Streichenberger, Marc Guenot, Jean Isnard, Antonio Valentijn, Amanda Chang, Nandini Mullatti, Josef Zamecnik, Jana Zarubova, Martin Tomasek, Arto Immonen, Anni Saarela, Tuomas Rauramaa, Johannes A Lobrinus, Kristof Egervari, Shahan Momjian, Elisabeth Harti, Hannah Lohr, Judith Kroell, Lynn Vermeulen, Evy Cleeren, Pavel Vlasov, Antonia Kozlova, Alexey Vorobyev, Gudrun Goeppel, Sharon Samueli, Thomas Czech, Johannes Hainfellner, Gertraud Puttinger, Gabriele Schwarz, Harald Stefanits, Serge Weis, Roberto Spreafico, Flavio Villani, Laura Rossini, Anke Hermsen, Susanne Knake, Christopher Nimsky, Barbara Carl, Anezka Belohlavkova, Barbora Benova, Jeroen Bisschop, Albert Colon, Vivianne van Kranen-Mastenbroek, Rob PW Rouhl, Govert Hoogland, Jordi Rumiá, Alia Ramírez-Camacho, Santiago Candela-Cantó, Karine Ostrowsky-Coste, Eleni Panagiotakaki, Alexandra Montavont, Pascale Keo Kosal, Zeynep Gokce-Samar, Clara Milleret, Anna M Buccoliero, Flavio Giordano, Vlatko Sulentic, Goran Mrak, Andrej Desnica, Giusy CarfíPavia, Alessandro De Benedictis, Carlo E Marras, Vladimir Bascarevic, Nikola Vojvodic, Aleksandar Ristic, Olinda Rebelo, Angel Aledo-Serrano, Irene Garcia-Morales, Carla Anciones
المساهمون: RS: MHeNs - R3 - Neuroscience, MUMC+: MA Med Staf Spec Neurochirurgie (9), RS: GROW - R2 - Basic and Translational Cancer Biology, MUMC+: DA Pat Pathologie (9), Pathology, APH - Aging & Later Life, APH - Mental Health, ANS - Cellular & Molecular Mechanisms, Schaller, Karl Lothard
المصدر: Lancet Neurology, 19(9), 748-757. Elsevier Science
Lancet neurology, 19(9), 748-757. Lancet Publishing Group
The Lancet Neurology, Vol. 19, No 9 (2020) pp. 748-757مصطلحات موضوعية: Adult, Male, Drug Resistant Epilepsy, Pediatrics, medicine.medical_specialty, Adolescent, Drug Resistant Epilepsy/drug therapy/pathology/surgery, Cohort Studies, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Seizures, medicine, Humans, Epilepsy surgery, seizure outcome, epilepsy surgery, antiepileptic drugs, histopathological diagnosis, Longitudinal Studies, 030212 general & internal medicine, Young adult, Child, Preschool, Aged, Retrospective Studies, Hippocampal sclerosis, business.industry, Anticonvulsants/therapeutic use, Vascular malformation, Infant, SUCCESS, Retrospective cohort study, Middle Aged, Cortical dysplasia, medicine.disease, ddc:616.8, Treatment Outcome, Child, Preschool, Anticonvulsants, Female, Seizures/drug therapy/pathology/prevention & control, Neurology (clinical), business, 030217 neurology & neurosurgery, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8c1f677cba833117000f872b9920f7eTest
https://www.bib.irb.hr/1242983Test -
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المؤلفون: Alberto Cossu, M.L. Gambardella, Nicola Pietrafusa, Bernardo Dalla Bernardina, Federico Vigevano, Francesca Ragona, Viola Doccini, Silvia Spolverato, Marina Trivisano, Nicola Specchio, Davide Mei, Anna Rosati, Tiziana Granata, Renzo Guerrini, Domenica Battaglia, Francesca Darra, Michela Quintiliani
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Zonisamide, Epilepsies, Myoclonic, 03 medical and health sciences, Young Adult, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Dravet syndrome, Interquartile range, Seizures, Stiripentol, Medicine, Humans, Prospective Studies, SCN1A, Child, Valproic Acid, business.industry, Seizure types, childhood epilepsy, medicine.disease, convulsive seizures, Anorexia, 030104 developmental biology, Treatment Outcome, Neurology, Child, Preschool, Epilepsy syndromes, Anticonvulsants, Female, fenfluramine, Neurology (clinical), Levetiracetam, business, 030217 neurology & neurosurgery, Selective Serotonin Reuptake Inhibitors, medicine.drug, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::317b380df04ebb4b62d03e0fa4b0bc3fTest
http://hdl.handle.net/11562/1029067Test -
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المؤلفون: V. Sarcona, Nicola Specchio, Pasquale Striano, Elisa Bianchi, Giovanna Randazzo, Maurizio Elia, Erika Rebessi, Giorgia Giussani, Alessandro Ferretti, Alberto Verrotti, Ettore Beghi, Paolo Bonanni
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Concordance, Neurodevelopmental disease, Dup15q, Chromosome aberration, Chromosomes, Validity, Diagnosis, Differential, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Intellectual disability, Diagnosis, medicine, Humans, Medical history, Preschool, Child, Genetic testing, Chromosome Aberrations, Chromosomes, Human, Pair 15, Epilepsy, medicine.diagnostic_test, business.industry, Pair 15, Syndrome, General Medicine, medicine.disease, Reliability, Hypotonia, Dud15q syndrome, Neurology, Neurodevelopmental Disorders, Child, Preschool, Differential, Female, Neurology (clinical), Differential diagnosis, medicine.symptom, business, 030217 neurology & neurosurgery, Human
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6a920ff7c05d63126f53a982c69a03bTest
https://hdl.handle.net/11573/1677836Test