المؤلفون: Ilaria Catusi, Maria Garzo, Anna Paola Capra, Silvana Briuglia, Chiara Baldo, Maria Paola Canevini, Rachele Cantone, Flaviana Elia, Francesca Forzano, Ornella Galesi, Enrico Grosso, Michela Malacarne, Angela Peron, Corrado Romano, Monica Saccani, Lidia Larizza, Maria Paola Recalcati

المساهمون: I. Catusi, M. Garzo, A. Paola Capra, S. Briuglia, C. Baldo, M.P. Canevini, R. Cantone, F. Elia, F. Forzano, O. Galesi, E. Grosso, M. Malacarne, A. Peron, C. Romano, M. Saccani, L. Larizza, M. Paola Recalcati

مصطلحات موضوعية: 8p23.2-pter microdeletion, 8p23.3, ARGHEF10, DLGAP2, behavior disorder, candidate region, chromosomal microarray analysis (CMA), critical microdeletion region (CR), developmental delay, small deletions, Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33925474; info:eu-repo/semantics/altIdentifier/wos/WOS:000654005800001; volume:12; issue:5; firstpage:1; lastpage:17; numberofpages:17; journal:GENES; http://hdl.handle.net/2434/841698Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105152010

الإتاحة: https://doi.org/10.3390/genes12050652Test
http://hdl.handle.net/2434/841698Test

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: Garau, Jessica, Sproviero, Daisy, Dragoni, Francesca, Piscianz, Elisa, Santonicola, Carolina, Tonduti, Davide, Carelli, Stephana, Tesser, Alessandra, Zuccotti, Gian Vincenzo, Tommasini, Alberto, Orcesi, Simona, Pansarasa, Orietta, Cereda, Cristina

المساهمون: J. Garau, D. Sproviero, F. Dragoni, E. Piscianz, C. Santonicola, D. Tonduti, S. Carelli, A. Tesser, G.V. Zuccotti, A. Tommasini, S. Orcesi, O. Pansarasa, C. Cereda

مصطلحات موضوعية: antibodie, autoimmune diseases of the nervous system, autophagy, child, preschool, DNA, human, hydroxychloroquine, lysosome, mutation, nervous system malformation, nucleotidyltransferase, RNA, Ribonuclease H, Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33707687; info:eu-repo/semantics/altIdentifier/wos/WOS:000627673600001; volume:18; issue:6; firstpage:1593; lastpage:1595; numberofpages:3; journal:CELLULAR & MOLECULAR IMMUNOLOGY; https://hdl.handle.net/2434/938839Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102626926

الإتاحة: https://doi.org/10.1038/s41423-021-00657-0Test
https://hdl.handle.net/2434/938839Test

المؤلفون: Parodi, Chiara, Di Fede, Elisabetta, Peron, Angela, Viganò, Ilaria, Grazioli, Paolo, Castiglioni, Silvia, Finnell, Richard H., Gervasini, Cristina, Vignoli, Aglaia, Massa, Valentina

المساهمون: C. Parodi, E. Di Fede, A. Peron, I. Viganò, P. Grazioli, S. Castiglioni, R.H. Finnell, C. Gervasini, A. Vignoli, V. Massa

مصطلحات موضوعية: HDAC inhibitor, anti-epileptic drug, chromatinopathie, fetal valproate syndrome, neurodevelopment, Settore BIO/13 - Biologia Applicata, Settore MED/03 - Genetica Medica, Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33959609; info:eu-repo/semantics/altIdentifier/wos/WOS:000646590200001; volume:9; firstpage:1; lastpage:13; numberofpages:13; journal:FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY; http://hdl.handle.net/2434/840735Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105381514

الإتاحة: https://doi.org/10.3389/fcell.2021.654467Test
http://hdl.handle.net/2434/840735Test

المؤلفون: Pelletier F., Perrier S., Cayami F. K., Mirchi A., Saikali S., Tran L. T., Ulrick N., Guerrero K., Rampakakis E., van Spaendonk R. M. L., Naidu S., Pohl D., Gibson W. T., Demos M., Goizet C., Tejera-Martin I., Potic A., Fogel B. L., Brais B., Sylvain M., Sebire G., Lourenco C. M., Bonkowsky J. L., Catsman-Berrevoets C., Pinto P. S., Tirupathi S., Stromme P., de Grauw T., Gieruszczak-Bialek D., Krageloh-Mann I., Mierzewska H., Philippi H., Rankin J., Atik T., Banwell B., Benko W. S., Blaschek A., Bley A., Boltshauser E., Bratkovic D., Brozova K., Cimas I., Clough C., Corenblum B., Dinopoulos A., Dolan G., Faletra F., Fernandez R., Fletcher J., Garcia Garcia M. E., Gasparini P., Gburek-Augustat J., Gonzalez Moron D., Hamati A., Harting I., Hertzberg C., Hill A., Hobson G. M., Innes A. M., Kauffman M., Kirwin S. M., Kluger G., Kolditz P., Kotzaeridou U., La Piana R., Liston E., McClintock W., McEntagart M., McKenzie F., Melancon S., Misbahuddin A., Suri M., Monton F. I., Moutton S., Murphy R. P. J., Nickel M., Onay H., Orcesi S., Ozkinay F., Patzer S., Pedro H., Pekic S., Pineda Marfa M., Pizzino A., Plecko B., Poll-The B. T., Popovic V., Rating D., Rioux M. -F., Rodriguez Espinosa N., Ronan A., Ostergaard J. R., Rossignol E., Sanchez-Carpintero R., Schossig A., Senbil N., Sonderberg Roos L. K., Stevens C. A., Synofzik M., Sztriha L., Tibussek D., Timmann D., Tonduti D., van de Warrenburg B. P., Vazquez-Lopez M., Venkateswaran S., Wasling P., Wassmer E., Webster R. I., Wiegand G., Yoon G., Rotteveel J., Schiffmann R., van der Knaap M. S., Vanderver A., Martos-Moreno G. A., Polychronakos C., Wolf N. I., Bernard G.

المساهمون: F. Pelletier, S. Perrier, F.K. Cayami, A. Mirchi, S. Saikali, L.T. Tran, N. Ulrick, K. Guerrero, E. Rampakaki, R.M.L. van Spaendonk, S. Naidu, D. Pohl, W.T. Gibson, M. Demo, C. Goizet, I. Tejera-Martin, A. Potic, B.L. Fogel, B. Brai, M. Sylvain, G. Sebire, C.M. Lourenco, J.L. Bonkowsky, C. Catsman-Berrevoet, P.S. Pinto, S. Tirupathi, P. Stromme, T. de Grauw, D. Gieruszczak-Bialek, I. Krageloh-Mann, H. Mierzewska, H. Philippi, J. Rankin, T. Atik, B. Banwell, W.S. Benko, A. Blaschek, A. Bley, E. Boltshauser, D. Bratkovic, K. Brozova, I. Cima, C. Clough, B. Corenblum, A. Dinopoulo, G. Dolan, F. Faletra, R. Fernandez, J. Fletcher, M.E. Garcia Garcia, P. Gasparini, J. Gburek-Augustat, D. Gonzalez Moron, A. Hamati, I. Harting, C. Hertzberg, A. Hill, G.M. Hobson, A.M. Inne, M. Kauffman, S.M. Kirwin, G. Kluger, P. Kolditz, U. Kotzaeridou, R. La Piana, E. Liston, W. Mcclintock, M. Mcentagart, F. Mckenzie, S. Melancon, A. Misbahuddin, M. Suri, F.I. Monton, S. Moutton, R.P.J. Murphy, M. Nickel, H. Onay, S. Orcesi, F. Ozkinay, S. Patzer, H. Pedro, S. Pekic, M. Pineda Marfa, A. Pizzino, B. Plecko, B.T. Poll-The, V. Popovic, D. Rating, M.-. Rioux, N. Rodriguez Espinosa, A. Ronan, J.R. Ostergaard, E. Rossignol, R. Sanchez-Carpintero, A. Schossig, N. Senbil, L.K. Sonderberg Roo, C.A. Steven, M. Synofzik, L. Sztriha

مصطلحات موضوعية: 4H leukodystrophy, hypogonadotropic hypogonadism, hypomyelination, POLR3-related leukodystrophy, Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33005949; info:eu-repo/semantics/altIdentifier/wos/WOS:000759115900048; volume:106; issue:2; firstpage:e660; lastpage:e674; numberofpages:14; journal:THE JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM; https://hdl.handle.net/2434/938735Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097520880

الإتاحة: https://doi.org/10.1210/clinem/dgaa700Test
https://hdl.handle.net/2434/938735Test

المؤلفون: Longo S., Caporali C., Pisoni C., Borghesi A., Perotti G., Tritto G., Olivieri I., La Piana R., Tonduti D., Decio A., Ariaudo G., Spairani S., Naboni C., Gardella B., Spinillo A., Manzoni F., Tinelli C., Stronati M., Orcesi S.

المساهمون: S. Longo, C. Caporali, C. Pisoni, A. Borghesi, G. Perotti, G. Tritto, I. Olivieri, R. La Piana, D. Tonduti, A. Decio, G. Ariaudo, S. Spairani, C. Naboni, B. Gardella, A. Spinillo, F. Manzoni, C. Tinelli, M. Stronati, S. Orcesi

مصطلحات موضوعية: Adult, Cerebral Palsy, Cohort Studie, Developmental Disabilitie, Female, Gestational Age, Human, Infant, Premature, Very Low Birth Weight, Italy, Longitudinal Studie, Male, Neurodevelopmental Disorder, Neurologic Examination, Tertiary Care Centers, Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34381139; info:eu-repo/semantics/altIdentifier/wos/WOS:000684343800028; volume:11; issue:1; firstpage:1; lastpage:10; numberofpages:10; journal:SCIENTIFIC REPORTS; https://hdl.handle.net/2434/938713Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85112297935

الإتاحة: https://doi.org/10.1038/s41598-021-95864-0Test
https://hdl.handle.net/2434/938713Test

المؤلفون: Battaglia D. I., Gambardella M. L., Veltri S., Contaldo I., Veredice C., Quintiliani M., Leoni C., Onesimo R., Verdolotti T., Martinelli D., Zampino G.

المساهمون: Battaglia, Domenica Immacolata, Gambardella, Maria Luigia, Veltri, Stefania, Contaldo, Ilaria, Chillemi, G., Veredice, Chiara, Quintiliani, Michela, Leoni, Chiara, Onesimo, Roberta, Verdolotti, Tommaso, Radio, F. C., Martinelli, Daniela, Trivisano, M., Specchio, N., Dravet, C., Tartaglia, M., Zampino, Giuseppe

مصطلحات موضوعية: BRAF, Cardiofaciocutaneous syndrome, Epilepsy, Genotype–phenotype correlations, Hyperekplexia, Status epilepticus, Phenotype, Settore MED/39 - NEUROPSICHIATRIA INFANTILE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34573299; info:eu-repo/semantics/altIdentifier/wos/WOS:000699597700001; volume:12; issue:9; firstpage:1; lastpage:15; numberofpages:15; issueyear:2021; journal:GENES; https://hdl.handle.net/10807/197177Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85114091797

الإتاحة: https://doi.org/10.3390/genes12091316Test
https://hdl.handle.net/10807/197177Test

المؤلفون: Panisi C., Guerini F. R., Abruzzo P. M., Balzola F., Biava P. M., Bolotta A., Brunero M., Burgio E., Chiara A., Clerici M., Croce L., Ferreri C., Giovannini N., Ghezzo A., Grossi E., Keller R., Manzotti A., Marini M., Migliore L., Moderato L., Moscone D., Mussap M., Parmeggiani A., Pasin V., Perotti M., Piras C., Saresella M., Stoccoro A., Toso T., Vacca R. A., Vagni D., Vendemmia S., Villa L., Politi P., Fanos V.

المساهمون: C. Panisi, F.R. Guerini, P.M. Abruzzo, F. Balzola, P.M. Biava, A. Bolotta, M. Brunero, E. Burgio, A. Chiara, M. Clerici, L. Croce, C. Ferreri, N. Giovannini, A. Ghezzo, E. Grossi, R. Keller, A. Manzotti, M. Marini, L. Migliore, L. Moderato, D. Moscone, M. Mussap, A. Parmeggiani, V. Pasin, M. Perotti, C. Pira, M. Saresella, A. Stoccoro, T. Toso, R.A. Vacca, D. Vagni, S. Vendemmia, L. Villa, P. Politi, V. Fanos

مصطلحات موضوعية: Autism Spectrum Disorder (ASD), Epigenetic, Gut dysbiosi, Immune activation, Machine learning, Metabolomic, Mitochondrial impairment, Oxidative stre, Pathogenesi, Prevention, Settore MED/04 - Patologia Generale, Settore MED/39 - Neuropsichiatria Infantile, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33504019; info:eu-repo/semantics/altIdentifier/wos/WOS:000622733700001; volume:11; issue:2; firstpage:1; lastpage:32; numberofpages:32; journal:JOURNAL OF PERSONALIZED MEDICINE; http://hdl.handle.net/2434/905233Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85100501115

الإتاحة: https://doi.org/10.3390/jpm11020070Test
http://hdl.handle.net/2434/905233Test

المؤلفون: Barkin JL, Buoli M, Curry CL, von Esenwein SA, Upadhyay S, Kearney MB, Mach K

المساهمون: J. Barkin, M. Buoli, C. Curry, S. von Esenwein, S. Upadhyay, M. Kearney, K. Mach

مصطلحات موضوعية: Settore MED/25 - Psichiatria, Settore MED/39 - Neuropsichiatria Infantile, Settore BIO/07 - Ecologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33720406; info:eu-repo/semantics/altIdentifier/wos/WOS:000628877500001; numberofpages:6; journal:DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY; http://hdl.handle.net/2434/827275Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102446994

الإتاحة: https://doi.org/10.1111/dmcn.14856Test
http://hdl.handle.net/2434/827275Test

المؤلفون: Marco Perulli, Maria Picilli, Ilaria Contaldo, Simona Amenta, Maria Luigia Gambardella, Michela Quintiliani, Elisa Musto, Ida Turrini, Chiara Veredice, Marcella Zollino, Domenica Immacolata Battaglia

المصدر: Seizure. 105:14-16

مصطلحات موضوعية: Treatment, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Neurology, Pyridoxine, Neurology (clinical), General Medicine, PACS2, Status epilepticus, Vitamin, Developmental epileptic encephalopathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d9484f486e76ddc3ad95e382dfb8eb3Test
https://doi.org/10.1016/j.seizure.2023.01.001Test