المؤلفون: Anna Rosati, Manuela L’Erario, Roberto Bianchi, Sara Olivotto, Domenica Immacolata Battaglia, Francesca Darra, Paolo Biban, Annibale Biggeri, Dolores Catelan, Giacomo Danieli, Maria Cristina Mondardini, Duccio Maria Cordelli, Angela Amigoni, Elisabetta Cesaroni, Alessandra Conio, Paola Costa, Martina Lombardini, Rosanna Meleleo, Alessandra Pugi, Elena Eve Tornaboni, Marta Elena Santarone, Roberta Vittorini, Stefano Sartori, Carla Marini, Federico Vigevano, Massimo Mastrangelo, Silvia Maria Pulitanò, Francesca Izzo, Lucia Fusco

المصدر: Epilepsia Open, Vol 7, Iss 3, Pp 532-540 (2022)

مصطلحات موضوعية: children, non‐profit study, refractory status epilepticus, treatment, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2470-9239

URL الوصول: https://doaj.org/article/4d10adf3a45b464680f5ae51665dca45

المؤلفون: Federico Amianto, Chiara Davico, Federica Bertino, Luca Bartolini, Roberta Vittorini, Martina Vacchetti, Benedetto Vitiello

المصدر: Children, Vol 9, Iss 10, p 1452 (2022)

مصطلحات موضوعية: childhood absence epilepsy, outcome predictors, seizures, headache, anti-seizure medication, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9067/9/10/1452; https://doaj.org/toc/2227-9067

URL الوصول: https://doaj.org/article/d42ddf93a4ff49d6aa765abb371dff87

المؤلفون: Chiara Davico, Carlotta Canavese, Roberta Vittorini, Marina Gandione, Benedetto Vitiello

المصدر: Frontiers in Psychiatry, Vol 9 (2018)

مصطلحات موضوعية: anticonvulsants, children, psychiatric, bipolar, aggression, clinical trial, Psychiatry, RC435-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fpsyt.2018.00270/full; https://doaj.org/toc/1664-0640

URL الوصول: https://doaj.org/article/98ebee551733430395dd53c7279b0239

المؤلفون: Sara Matricardi, Sandrine Cestèle, Marina Trivisano, Benedetta Kassabian, Nathalie Leroudier, Roberta Vittorini, Margherita Nosadini, Elisabetta Cesaroni, Sabrina Siliquini, Cristina Marinaccio, Francesca Longaretti, Barbara Podestà, Francesca Felicia Operto, Concetta Luisi, Stefano Sartori, Clementina Boniver, Nicola Specchio, Federico Vigevano, Carla Marini, Massimo Mantegazza

المصدر: Epilepsia. 64:1331-1347

مصطلحات موضوعية: focal epilepsy, Neurology, sodium channel blockers, gain of function, Neurology (clinical), SCN1A gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce0cc1671dbc64452d927907d388db80
https://doi.org/10.1111/epi.17509

المؤلفون: Gianluca D’Onofrio, Andrea Accogli, Mariasavina Severino, Haluk Caliskan, Tomislav Kokotović, Antonela Blazekovic, Kristina Gotovac Jercic, Silvana Markovic, Tamara Zigman, Krnjak Goran, Nina Barišić, Vlasta Duranovic, Ana Ban, Fran Borovecki, Danijela Petković Ramadža, Ivo Barić, Walid Fazeli, Peter Herkenrath, Carla Marini, Roberta Vittorini, Vykuntaraju Gowda, Arjan Bouman, Clarissa Rocca, Issam Azmi Alkhawaja, Bibi Nazia Murtaza, Malik Mujaddad Ur Rehman, Chadi Al Alam, Gisele Nader, Maria Margherita Mancardi, Thea Giacomini, Siddharth Srivastava, Javeria Raza Alvi, Hoda Tomoum, Sara Matricardi, Michele Iacomino, Antonella Riva, Marcello Scala, Francesca Madia, Angela Pistorio, Vincenzo Salpietro, Carlo Minetti, Jean-Baptiste Rivière, Myriam Srour, Stephanie Efthymiou, Reza Maroofian, Henry Houlden, Sonja Catherine Vernes, Federico Zara, Pasquale Striano, Vanja Nagy

المساهمون: Clinical Genetics, University of St Andrews. School of Biology, University of St Andrews. Institute of Behavioural and Neural Sciences, University of St Andrews. St Andrews Bioinformatics Unit

المصدر: Human Genetics. Springer-Verlag
Human Genetics

مصطلحات موضوعية: MCC, NDAS, Genetics, QH426 Genetics, QH426, Genetics (clinical)

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::145f2202f9c8b9a470b51960f983f5e6
https://doi.org/10.1007/s00439-023-02552-2

المؤلفون: Allan Bayat, Guillem de Valles‐Ibáñez, Manuela Pendziwiat, Alexej Knaus, Kerstin Alt, Elisa Biamino, Annette Bley, Sophie Calvert, Patrick Carney, Alfonso Caro‐Llopis, Berten Ceulemans, Janice Cousin, Suzanne Davis, Vincent des Portes, Patrick Edery, Eleina England, Carlos Ferreira, Jeremy Freeman, Blanca Gener, Magali Gorce, Delphine Heron, Michael S. Hildebrand, Aleksandra Jezela‐Stanek, Pierre‐Simon Jouk, Boris Keren, Katja Kloth, Gerhard Kluger, Marius Kuhn, Johannes R. Lemke, Hong Li, Francisco Martinez, Caroline Maxton, Heather C. Mefford, Giuseppe Merla, Hanna Mierzewska, Alison Muir, Sandra Monfort, Joost Nicolai, Jennifer Norman, Gina O'Grady, Barbara Oleksy, Carmen Orellana, Laura Elena Orec, Charlotte Peinhardt, Ewa Pronicka, Monica Rosello, Fernando Santos‐Simarro, Eva Maria Christina Schwaibold, Alexander P. A. Stegmann, Constance T. Stumpel, Elzbieta Szczepanik, Iwona Terczyńska, Julien Thevenon, Andreas Tzschach, Patrick Van Bogaert, Roberta Vittorini, Sonja Walsh, Sarah Weckhuysen, Barbara Weissman, Lynne Wolfe, Alexandre Reymond, Pasquelena De Nittis, Annapurna Poduri, Heather Olson, Pasquale Striano, Gaetan Lesca, Ingrid E. Scheffer, Rikke S. Møller, Lynette G. Sadleir

المساهمون: RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), MUMC+: DA KG Lab Specialisten (9)

المصدر: Epilepsia, 63(4), 974-991. Wiley
Epilepsia
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Bayat, A, de Valles-Ibáñez, G, Pendziwiat, M, Knaus, A, Alt, K, Biamino, E, Bley, A, Calvert, S, Carney, P, Caro-Llopis, A, Ceulemans, B, Cousin, J, Davis, S, des Portes, V, Edery, P, England, E, Ferreira, C, Freeman, J, Gener, B, Gorce, M, Heron, D, Hildebrand, M S, Jezela-Stanek, A, Jouk, P S, Keren, B, Kloth, K, Kluger, G, Kuhn, M, Lemke, J R, Li, H, Martinez, F, Maxton, C, Mefford, H C, Merla, G, Mierzewska, H, Muir, A, Monfort, S, Nicolai, J, Norman, J, O'Grady, G, Oleksy, B, Orellana, C, Orec, L E, Peinhardt, C, Pronicka, E, Rosello, M, Santos-Simarro, F, Schwaibold, E M C, Stegmann, A P A, Stumpel, CT, Szczepanik, E, Terczyńska, I, Thevenon, J, Tzschach, A, Van Bogaert, P, Vittorini, R, Walsh, S, Weckhuysen, S, Weissman, B, Wolfe, L, Reymond, A, De Nittis, P, Poduri, A, Olson, H, Striano, P, Lesca, G, Scheffer, I E, Møller, R S & Sadleir, L G 2022, ' PIGN encephalopathy : Characterizing the epileptology ', Epilepsia, vol. 63, no. 4, pp. 974-991 . https://doi.org/10.1111/epi.17173

مصطلحات موضوعية: Epilepsy/diagnostic imaging, Drug Resistant Epilepsy, PROTEINS, Electroencephalography, Intellectual Disability/diagnostic imaging, HYPOTONIA-SEIZURES SYNDROME, PHENOTYPE, congenital disorder of glycosylation, CONGENITAL-ANOMALIES, Phenotype, Neurology, Seizures, intellectual disability, Humans, epilepsy, Female, Human medicine, Neurology (clinical), developmental and epileptic encephalopathy, PRENATAL-DIAGNOSIS, Seizures/genetics, GPI-anchoring disorder, MUTATION

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4449aa5fd5347944f5112b52327194e1
https://cris.maastrichtuniversity.nl/en/publications/0de515e6-beb9-44d5-98da-4fa8681f15b0

المؤلفون: Chiara Davico, Rossella D’Alessandro, Marta Borgogno, Filippa Campagna, Francesca Torta, Federica Ricci, Federico Amianto, Roberta Vittorini, Diana Carli, Alessandro Mussa, Benedetto Vitiello, Giovanni Battista Ferrero

المصدر: European journal of pediatrics. 181(8)

مصطلحات موضوعية: Male, Epilepsy, Phenotype, Seizures, Neurological features, Noonan syndrome, Facies, Female, Humans, Mutation, ras Proteins, Noonan Syndrome, Pediatrics, Perinatology and Child Health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c935800ff5509fec9c36aa585bf098f
https://pubmed.ncbi.nlm.nih.gov/35575813

المؤلفون: Francesca Rossi, Giulia Zucchetti, Maria Esposito, Paola Berchialla, Veronica Sciannameo, Elena Vassallo, Francesco Saglio, Carolina Chamorro Viña, Silvia Scarrone, Roberta Vittorini, Franca Fagioli

مصطلحات موضوعية: Adolescent, Pilot Projects, Oncology, children, Child, Preschool, motor performance, hematopoietic stem cell transplantation, Humans, fatigue, physical therapy, Muscle Strength, adolescents, Child, Stem Cell Transplantation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bb379d998b3a12dbc14d7e443bdc773
https://hdl.handle.net/2318/1886558

المؤلفون: Arianna Terrinoni, Benedetto Vitiello, Caterina Lux, Dario Calderoni, Federica Di Santo, Chiara Davico, Antonio Francesco Urbino, Federica Ricci, Roberta Vittorini, Mauro Ferrara, Federico Amianto, Daniele Marcotulli

المصدر: Seizure

مصطلحات موضوعية: Emergency Medical Services, Reduced risk, medicine.medical_specialty, Adolescent, Coronavirus disease 2019 (COVID-19), Short Communication, Clinical Neurology, Hospitalization rate, Parental supervision, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Civd-19, Emergency, Seizures, Health care, medicine, Humans, Child, Children, Child neurology, Covid-19, Seizure, SARS-CoV-2, business.industry, General Medicine, Emergency department, medicine.disease, Hospitalization, Italy, Neurology, Emergency medicine, Observational study, Neurology (clinical), Emergency Service, Hospital, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35140d55e3458eb685463eeaacc3e372
https://doi.org/10.1016/j.seizure.2020.09.025

المؤلفون: Patrizia Malaspina, Concetta Capo, Sara Leo, Mattia Falconi, Luisa Rossi, Elisa Biamino, Bianca Maria Ciminelli, Federico Iacovelli, Roberta Vittorini, Serena Vesco, Marco Spada, Maria Paola Puccinelli, Francesco Porta, Giovanna Menduti

المصدر: Molecular genetics and metabolism. 124(3)

مصطلحات موضوعية: 0301 basic medicine, Succinic semialdehyde dehydrogenase deficiency, Male, Heterozygote, Protein Conformation, Endocrinology, Diabetes and Metabolism, Developmental Disabilities, Mutant, Mutation, Missense, SSADHD (succinic semialdehyde dehydrogenase deficiency), Gene mutation, medicine.disease_cause, Biochemistry, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Enzyme Stability, Genetics, medicine, Missense mutation, Humans, ALDH5A1 gene, GABA (γ-aminobutyric acid), GHB (γ-hydroxybutyric acid), SSADH, Molecular Biology, Amino Acid Metabolism, Inborn Errors, Mutation, biology, Settore BIO/11, Chemistry, Settore BIO/12, Wild type, medicine.disease, Molecular biology, Enzyme assay, Pedigree, Settore BIO/18 - Genetica, 030104 developmental biology, Child, Preschool, biology.protein, Female, Succinate-Semialdehyde Dehydrogenase, 030217 neurology & neurosurgery, Homotetramer

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cfb9a5ac06b6419d3952f485adbc9d9
https://pubmed.ncbi.nlm.nih.gov/29895405