المؤلفون: Coppola, Antonietta, Krithika, S, Iacomino, Michele, Bobbili, Dheeraj, Balestrini, Simona, Bagnasco, Irene, Bilo, Leonilda, Buti, Daniela, Casellato, Susanna, Cuccurullo, Claudia, Ferlazzo, Edoardo, Leu, Costin, Giordano, Lucio, Gobbi, Giuseppe, Hernandez-Hernandez, Laura, Lench, Nick, Martins, Helena, Meletti, Stefano, Messana, Tullio, Nigro, Vincenzo, Pinelli, Michele, Pippucci, Tommaso, Bellampalli, Ravishankara, Salis, Barbara, Sofia, Vito, Striano, Pasquale, Striano, Salvatore, Tassi, Laura, Vignoli, Aglaia, Vaudano, Anna Elisabetta, Viri, Maurizio, Scheffer, Ingrid E, May, Patrick, Zara, Federico, Sisodiya, Sanjay M

المساهمون: A. Coppola, S. Krithika, M. Iacomino, D. Bobbili, S. Balestrini, I. Bagnasco, L. Bilo, D. Buti, S. Casellato, C. Cuccurullo, E. Ferlazzo, C. Leu, L. Giordano, G. Gobbi, L. Hernandez-Hernandez, N. Lench, H. Martin, S. Meletti, T. Messana, V. Nigro, M. Pinelli, T. Pippucci, R. Bellampalli, B. Sali, V. Sofia, P. Striano, S. Striano, L. Tassi, A. Vignoli, A.E. Vaudano, M. Viri, I.E. Scheffer, P. May, F. Zara, S.M. Sisodiya

مصطلحات موضوعية: CHD2, IFIH1, NEXMIF, SYNGAP1, TRIM8, generalized epilepsy, Settore MED/39 - Neuropsichiatria Infantile, Settore MED/26 - Neurologia, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38088023; info:eu-repo/semantics/altIdentifier/wos/WOS:001129675400001; firstpage:1; lastpage:13; numberofpages:13; journal:EPILEPSIA; https://hdl.handle.net/2434/1023729Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85180681375

الإتاحة: https://doi.org/10.1111/epi.17859Test
https://hdl.handle.net/2434/1023729Test

المؤلفون: De Masi, Salvatore, Perulli, Marco, Battaglia, Domenica, Granata, Tiziana, Ferrari, Annarita, Pellegrin, Serena

المساهمون: Balestrini, Simona, Doccini, Viola, Giometto, Sabrina, Lucenteforte, Ersilia, De Masi, Salvatore, Giarola, Elisa, Brambilla, Isabella, Pieroni, Federica, Perulli, Marco, Battaglia, Domenica Immacolata, Specchio, Nicola, Ragona, Francesca, Granata, Tiziana, Pellacani, Simona, Ferrari, Annarita, Marini, Carla, Matricardi, Sara, Cesaroni, Elisabetta, Giordano, Lucio, Accorsi, Patrizia, Sciruicchio, Vittorio, Tinuper, Paolo, Messana, Tullio, Russo, Angelo, Pruna, Dario, Nosadini, Margherita, De Giorgis, Valentina, Caputo, Davide, Pellegrin, Serena, Lo Barco, Tommaso, Darra, Francesca, Dalla Bernardina, Bernardo, Guerrini, Renzo

مصطلحات موضوعية: SCN1A, epilepsy syndrome, natural history, rare disease, registry, Settore MED/39 - NEUROPSICHIATRIA INFANTILE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36938796; info:eu-repo/semantics/altIdentifier/wos/WOS:000966513000001; issue:MARZO; firstpage:1; lastpage:18; numberofpages:18; issueyear:2023; journal:EPILEPSIA OPEN; https://hdl.handle.net/10807/236634Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85152445996

الإتاحة: https://doi.org/10.1002/epi4.12730Test
https://hdl.handle.net/10807/236634Test

المؤلفون: Vinci, Mirella, Kursula, Petri, Greco, Donatella, Elia, Maurizio, Vetri, Luigi, Schepis, Carmelo, Chiavetta, Valeria, Donadio, Serena, Roccella, Michele, Carotenuto, Marco, Romano, Valentino, Calì, Francesco

المساهمون: Vinci, Mirella, Kursula, Petri, Greco, Donatella, Elia, Maurizio, Vetri, Luigi, Schepis, Carmelo, Chiavetta, Valeria, Donadio, Serena, Roccella, Michele, Carotenuto, Marco, Romano, Valentino, Calì, Francesco

مصطلحات موضوعية: AHNAK2, borderline intellectual functioning, epilepsy, facio-cardio-cutaneous-like phenotype, NGS exome, Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35789128; info:eu-repo/semantics/altIdentifier/wos/WOS:000820595700001; volume:10; issue:9; firstpage:e2012; numberofpages:9; journal:MOLECULAR GENETICS & GENOMIC MEDICINE; http://hdl.handle.net/10447/569064Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85133394162

الإتاحة: https://doi.org/10.1002/mgg3.2012Test
http://hdl.handle.net/10447/569064Test

المؤلفون: Vignoli, Aglaia, La Briola, Francesca, Turner, Katherine, Peron, Angela, Vannicola, Chiara, Chiesa, Valentina, Zambrelli, Elena, Bruschi, Fabio, Viganò, Ilaria, Canevini, Maria Paola

المساهمون: A. Vignoli, F. La Briola, K. Turner, A. Peron, C. Vannicola, V. Chiesa, E. Zambrelli, F. Bruschi, I. Viganò, M.P. Canevini

مصطلحات موضوعية: adulthood, epilepsy, seizure, TSC, tuberous sclerosis complex, Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33748956; info:eu-repo/semantics/altIdentifier/wos/WOS:000614217100001; volume:144; issue:1; firstpage:29; lastpage:40; numberofpages:12; journal:ACTA NEUROLOGICA SCANDINAVICA; http://hdl.handle.net/2434/827230Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102845834

الإتاحة: https://doi.org/10.1111/ane.13416Test
http://hdl.handle.net/2434/827230Test

المؤلفون: Klepper J., Akman C., Armeno M., Auvin S., Cervenka M., Cross H. J., De Giorgis V., Della Marina A., Engelstad K., Heussinger N., Kossoff E. H., Leen W. G., Leiendecker B., Monani U. R., Oguni H., Neal E., Pascual J. M., Pearson T. S., Pons R., Scheffer I. E., Veggiotti P., Willemsen M., Zuberi S. M., De Vivo D. C.

المساهمون: J. Klepper, C. Akman, M. Armeno, S. Auvin, M. Cervenka, H.J. Cro, V. De Giorgi, A. Della Marina, K. Engelstad, N. Heussinger, E.H. Kossoff, W.G. Leen, B. Leiendecker, U.R. Monani, H. Oguni, E. Neal, J.M. Pascual, T.S. Pearson, R. Pon, I.E. Scheffer, P. Veggiotti, M. Willemsen, S.M. Zuberi, D.C. De Vivo

مصطلحات موضوعية: children, consensu, diet, epilepsy, glucose transport, Glut1, Glut1 Deficiency Syndrome, Glut1D, Glut1DS, guideline, ketogenic, Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32913944; info:eu-repo/semantics/altIdentifier/wos/WOS:000648552600006; volume:5; issue:3; firstpage:354; lastpage:365; numberofpages:12; journal:EPILEPSIA OPEN; http://hdl.handle.net/2434/762721Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089404261

الإتاحة: https://doi.org/10.1002/epi4.12414Test
http://hdl.handle.net/2434/762721Test

المؤلفون: Mendes, Marisa I, Green, Lydia M C, Bertini, Enrico, Tonduti, Davide, Aiello, Chiara, Smith, Desiree, Salsano, Ettore, Beerepoot, Shanice, Hertecant, Jozef, von Spiczak, Sarah, Livingston, John H, Emrick, Lisa, Fraser, Jamie, Russell, Laura, Bernard, Genevieve, Magri, Stefania, Di Bella, Daniela, Taroni, Franco, Koenig, Mary K, Moroni, Isabella, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Rhee, Jullie, Mendelsohn, Bryce A, Helbig, Ingo, Helbig, Katherine, Muhle, Hiltrud, Ismayl, Omar, Vanderver, Adeline L, Salomons, Gajja S, van der Knaap, Marjo S, Wolf, Nicole I

المساهمون: M.I. Mende, L.M.C. Green, E. Bertini, D. Tonduti, C. Aiello, D. Smith, E. Salsano, S. Beerepoot, J. Hertecant, S. von Spiczak, J.H. Livingston, L. Emrick, J. Fraser, L. Russell, G. Bernard, S. Magri, D. Di Bella, F. Taroni, M.K. Koenig, I. Moroni, G. Cappuccio, N. Brunetti-Pierri, J. Rhee, B.A. Mendelsohn, I. Helbig, K. Helbig, H. Muhle, O. Ismayl, A.L. Vanderver, G.S. Salomon, M.S. van der Knaap, N.I. Wolf

مصطلحات موضوعية: adolescent, adult, age of onset, arginine-tRNA ligase, child, preschool, cross-sectional studie, hereditary central nervous system demyelinating disease, human, infant, magnetic resonance imaging, severity of illness index, young adult, genetic association studies, Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31814314; info:eu-repo/semantics/altIdentifier/wos/WOS:000501183300001; volume:7; issue:1; firstpage:83; lastpage:93; numberofpages:11; journal:ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY; https://hdl.handle.net/2434/938854Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85076356830

الإتاحة: https://doi.org/10.1002/acn3.50960Test
https://hdl.handle.net/2434/938854Test

المؤلفون: Silvia Masnada, Daniele Gibelli, Claudia Dolci, Valentina De Giorgis, Annalisa Cappella, Pierangelo Veggiotti, Chiarella Sforza

المساهمون: S. Masnada, D.M. Gibelli, C. Dolci, V. De Giorgi, A. Cappella, P. Veggiotti, C. Sforza

مصطلحات موضوعية: 3D, Aicardi syndrome, face, neurology, stereophotogrammetry, Settore BIO/16 - Anatomia Umana, Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32798292; info:eu-repo/semantics/altIdentifier/wos/WOS:000559897500001; volume:182A; issue:10; firstpage:2325; lastpage:2332; numberofpages:8; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/2434/758218Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089367396

الإتاحة: https://doi.org/10.1002/ajmg.a.61791Test
http://hdl.handle.net/2434/758218Test

المؤلفون: Vaudano A. E., Olivotto S., Ruggieri A., Gessaroli G., Talami F., Parmeggiani A., De Giorgis V., Veggiotti P., Meletti S.

المساهمون: A.E. Vaudano, S. Olivotto, A. Ruggieri, G. Gessaroli, F. Talami, A. Parmeggiani, V. De Giorgi, P. Veggiotti, S. Meletti

مصطلحات موضوعية: basal ganglia, cerebellum, children, functional connectivity, GLUT1DS, neuroglycopenia, striatum, Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31710770; info:eu-repo/semantics/altIdentifier/wos/WOS:000495542000001; volume:41; issue:2; firstpage:453; lastpage:466; numberofpages:14; journal:HUMAN BRAIN MAPPING; http://hdl.handle.net/2434/696186Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85075012202

الإتاحة: https://doi.org/10.1002/hbm.24815Test
http://hdl.handle.net/2434/696186Test

المؤلفون: Balestrini, Simona, Doccini, Viola, Giometto, Sabrina, Lucenteforte, Ersilia, De Masi, Salvatore, Giarola, Elisa, Brambilla, Isabella, Pieroni, Federica, Perulli, Marco, Battaglia, Domenica Immacolata, Specchio, Nicola, Ragona, Francesca, Granata, Tiziana, Pellacani, Simona, Ferrari, Annarita, Marini, Carla, Matricardi, Sara, Cesaroni, Elisabetta, Giordano, Lucio, Accorsi, Patrizia, Sciruicchio, Vittorio, Tinuper, Paolo, Messana, Tullio, Russo, Angelo, Pruna, Dario, Nosadini, Margherita, De Giorgis, Valentina, Caputo, Davide, Pellegrin, Serena, Lo Barco, Tommaso, Darra, Francesca, Dalla Bernardina, Bernardo, Guerrini, Renzo

المصدر: Epilepsia Open.

مصطلحات موضوعية: Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Neurology, natural history, rare disease, SCN1A, Neurology (clinical), registry, epilepsy syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23b97a8a86dbfc21a07381f14db63fb6Test
https://doi.org/10.1002/epi4.12730Test

المؤلفون: Domenico M. Romeo, Frances M. Cowan, Leena Haataja, Daniela Ricci, Elisa Pede, Francesca Gallini, Francesco Cota, Claudia Brogna, Mario G. Romeo, Giovanni Vento, Eugenio Mercuri

المساهمون: Children's Hospital, HUS Children and Adolescents

المصدر: Developmental Medicine & Child Neurology. 64:871-880

مصطلحات موضوعية: Male, Neurologic Examination, MOVEMENTS, Cerebral Palsy, 3112 Neurosciences, Infant, Gestational Age, CHILDREN, CLASSIFICATION, 3124 Neurology and psychiatry, Cohort Studies, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, AGE, PRETERM-INFANTS, Developmental Neuroscience, 3123 Gynaecology and paediatrics, Child, Preschool, Pediatrics, Perinatology and Child Health, Humans, Female, Neurology (clinical), preterm, Child, Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b944bf30096b4035bd20da6cf9abe0fbTest
https://doi.org/10.1111/dmcn.15191Test