المؤلفون: Downs, J, Jacoby, P, Specchio, N, Cross, H, Amin, S, Bahi-Buisson, N, Rajaraman, Rajsekar, Suter, B, Devinsky, O, Aimetti, A, Busse, G, Olson, H, Demarest, S, Benke, T, Pestana-Knight, E

مصطلحات موضوعية: Anti-Seizure medication, CDKL5 deficiency disorder, Epilepsy, Patient-reported outcomes, Humans, Female, Male, Double-Blind Method, Child, Child, Preschool, Adolescent, Quality of Life, Young Adult, Treatment Outcome, Epileptic Syndromes, Seizures, Pregnanolone, Spasms, Infantile

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6tx259cv
https://escholarship.org/content/qt6tx259cv/qt6tx259cv.pdf

المؤلفون: Wickstrom, R, Taraschenko, O, Dilena, R, Payne, ET, Specchio, N, Nabbout, R, Koh, S, Gaspard, N, Hirsch, LJ

المصدر: Epilepsia. 63(11):2840-2864

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:150783326

المؤلفون: Wickstrom, R, Taraschenko, O, Dilena, R, Payne, ET, Specchio, N, Nabbout, R, Koh, S, Gaspard, N, Hirsch, LJ

المصدر: Epilepsia. 63(11):2827-2839

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:150562935

المؤلفون: Burgess, R, Wang, SY, McTague, A, Boysen, KE, Yang, XL, Zeng, Q, Myers, KA, Rochtus, A, Trivisano, M, Gill, D, Sadleir, LG, Specchio, N, Guerrini, R, Marini, C, Zhang, YH, Mefford, HC, Kurian, MA, Poduri, AH, Scheffer, IE

المصدر: Annals of neurology. 86(6):821-831

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:142352856

المؤلفون: Riva A., Coppola A., Bisulli F., Verrotti A., Bagnasco I., Elia M., Darra F., Lattanzi S., Meletti S., LaNeve A., DiGennaro G., Brambilla I., Santoro K., Prisco T., Macari F., Gambardella A., di Bonaventura C., Balestrini S., Marini C., Pruna D., Capovilla G., Specchio N., Gobbi G., Striano P., Emanuele B., Paolo B., Antonella B., Eleonora B., Laura C., Ilaria D. N., Francesco F., Rosita G., Lucio G., Alessia G., Loretta G., Loredana L., Anna L., Michela M., Domenica M. S., Mario M., Tullio M., Eliana P., Giuditta P., Cinzia P., Marta P., Nicola P., Virginia P., Giovanni P., Giulia P., Patrizia P., Francesca R., Romana R., Eleonora R., Rosita R. M., Jasenka S., Carlotta S., Alberto S., Gaetano T., Antonio T., Massimo V., Claudio Z.

المساهمون: Riva, A., Coppola, A., Bisulli, F., Verrotti, A., Bagnasco, I., Elia, M., Darra, F., Lattanzi, S., Meletti, S., Laneve, A., Digennaro, G., Brambilla, I., Santoro, K., Prisco, T., Macari, F., Gambardella, A., di Bonaventura, C., Balestrini, S., Marini, C., Pruna, D., Capovilla, G., Specchio, N., Gobbi, G., Striano, P., Emanuele, B., Paolo, B., Antonella, B., Eleonora, B., Laura, C., Ilaria, D. N., Francesco, F., Rosita, G., Lucio, G., Alessia, G., Loretta, G., Loredana, L., Anna, L., Michela, M., Domenica, M. S., Mario, M., Tullio, M., Eliana, P., Giuditta, P., Cinzia, P., Marta, P., Nicola, P., Virginia, P., Giovanni, P., Giulia, P., Patrizia, P., Francesca, R., Romana, R., Eleonora, R., Rosita, R. M., Jasenka, S., Carlotta, S., Alberto, S., Gaetano, T., Antonio, T., Massimo, V., Claudio, Z.

مصطلحات موضوعية: DEE, Delphi, management, multidisciplinarity, rare epilepsies

Relation: info:eu-repo/semantics/altIdentifier/pmid/39176980; info:eu-repo/semantics/altIdentifier/wos/WOS:001296545700001; volume:9; issue:5; firstpage:1857; lastpage:1867; journal:EPILEPSIA OPEN; https://hdl.handle.net/11380/1363477

الاتاحة: https://hdl.handle.net/11380/1363477
https://doi.org/10.1002/epi4.13020

المؤلفون: Tessadori, F., Duran, K., Knapp, K., Fellner, M., Smithson, S., Beleza Meireles, A., Elting, M. W., Waisfisz, Q., O'donnell-Luria, A., Nowak, C., Douglas, J., Ronan, A., Brunet, T., Kotzaeridou, U., Svihovec, S., Saenz, M. S., Thiffault, I., Del Viso, F., Devine, P., Rego, S., Tenney, J., Van Haeringen, A., Ruivenkamp, C. A. L., Koene, S., Robertson, S. P., Deshpande, C., Pfundt, R., Verbeek, N., Van De Kamp, J. M., Weiss, J. M. M., Ruiz, A., Gabau, E., Banne, E., Pepler, A., Bottani, A., Laurent, S., Guipponi, M., Bijlsma, E., Bruel, A. L., Sorlin, A., Willis, M., Powis, Z., Smol, Thomas, Vincent-Delorme, C., Baralle, D., Colin, E., Revencu, N., Calpena, E., Wilkie, A. O. M., Chopra, M., Cormier-Daire, V., Keren, B., Afenjar, A., Niceta, M., Terracciano, A., Specchio, N., Tartaglia, M., Rio, M., Barcia, G., Rondeau, S., Colson, C., Bakkers, J., Mace, P. D., Bicknell, L. S., Van Haaften, G.

المساهمون: Université de Lille, CHU Lille, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, University of Otago Dunedin, Nouvelle-Zélande, Universiteit Utrecht / Utrecht University Utrecht

وصف الملف: application/octet-stream; application/rdf+xml; charset=utf-8

Relation: American Journal of Human Genetics; Am J Hum Genet; http://hdl.handle.net/20.500.12210/114505

الاتاحة: https://hdl.handle.net/20.500.12210/114505

المؤلفون: Schulz, A, Specchio, N, de los Reyes, E, Gissen, P, Nickel, M, Trivisano, M, Aylward, SC, Chakrapani, A, Schwering, C, Wibbeler, E, Westermann, LM, Ballon, DJ, Dyke, JP, Cherukuri, A, Bondade, S, Slasor, P, Cohen Pfeffer, J

المصدر: Lancet Neurology , 23 (1) pp. 60-70. (2024)

مصطلحات موضوعية: Humans, Male, Female, Neuronal Ceroid-Lipofuscinoses, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Tripeptidyl-Peptidase 1, Recombinant Proteins

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10186205/1/THELANCETNEUROLOGY-D-23-00210_R3.pdf; https://discovery.ucl.ac.uk/id/eprint/10186205/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10186205/1/THELANCETNEUROLOGY-D-23-00210_R3.pdf
https://discovery.ucl.ac.uk/id/eprint/10186205/

المؤلفون: Oliver, KL, Trivisano, M, Mandelstam, SA, De Dominicis, A, Francis, DI, Green, TE, Muir, AM, Chowdhary, A, Hertzberg, C, Goldhahn, K, Metreau, J, Prager, C, Pinner, J, Cardamone, M, Myers, KA, Leventer, RJ, Lesca, G, Bahlo, M, Hildebrand, MS, Mefford, HC, Kaindl, AM, Specchio, N, Scheffer, IE

Relation: NHMRC/1172897; NHMRC/2006841; NHMRC/2010562; Oliver, K. L., Trivisano, M., Mandelstam, S. A., De Dominicis, A., Francis, D. I., Green, T. E., Muir, A. M., Chowdhary, A., Hertzberg, C., Goldhahn, K., Metreau, J., Prager, C., Pinner, J., Cardamone, M., Myers, K. A., Leventer, R. J., Lesca, G., Bahlo, M., Hildebrand, M. S. ,. Scheffer, I. E. (2023). WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk. EPILEPSIA, 64 (5), pp.1351-1367. https://doi.org/10.1111/epi.17542.; http://hdl.handle.net/11343/333388

الاتاحة: http://hdl.handle.net/11343/333388

المؤلفون: Specchio N, Pietrafusa N, Trivisano M

المصدر: Therapeutics and Clinical Risk Management, Vol Volume 16, Pp 213-222 (2020)

مصطلحات موضوعية: neuronal ceroid lipofuscinosis type 2, tpp1, cerliponase alfa, late infantile, seizures, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.dovepress.com/changing-times-for-cln2-disease-the-era-of-enzyme-replacement-therapy-peer-reviewed-article-TCRM; https://doaj.org/toc/1178-203X

URL الوصول: https://doaj.org/article/f4e9a0cf20fd47adbb452f95a86298e3

المؤلفون: Garone G., Innocenti A., Grasso M., Mandarino A., Capuano A., Della Bella G., Frascarelli F., Diodato D., Onesimo R., Zampino G., Novelli A., Digilio M. C., Bartuli A., Dentici M. L., Parisi P., Galosi S., Tonduti D., Bertini E., Sinibaldi L., Specchio N.

المساهمون: Garone, G., Innocenti, A., Grasso, M., Mandarino, A., Capuano, A., Della Bella, G., Frascarelli, F., Diodato, D., Onesimo, R., Zampino, G., Novelli, A., Digilio, M. C., Bartuli, A., Dentici, M. L., Parisi, P., Galosi, S., Tonduti, D., Bertini, E., Sinibaldi, L., Specchio, N.

مصطلحات موضوعية: Bradykinesia, CTNNB1, Dystonia, Movement disorder, Spastic diplegia

Relation: info:eu-repo/semantics/altIdentifier/pmid/39067319; info:eu-repo/semantics/altIdentifier/wos/WOS:001281943300001; volume:126; firstpage:1; lastpage:5; numberofpages:5; journal:PARKINSONISM & RELATED DISORDERS; https://hdl.handle.net/11573/1717316; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85199495963

الاتاحة: https://hdl.handle.net/11573/1717316
https://doi.org/10.1016/j.parkreldis.2024.107057

المؤلفون: Wirrell, EC, Lagae, L, Scheffer, IE, Cross, JH, Specchio, N, Strzelczyk, A

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/349435

المؤلفون: Tessadori, F., Duran, K., Knapp, K., Fellner, M., Smithson, S., Beleza Meireles, A., Elting, M. W., Waisfisz, Q., O'Donnell-Luria, A., Nowak, C., Douglas, J., Ronan, A., Brunet, T., Kotzaeridou, U., Svihovec, S., Saenz, M. S., Thiffault, I., del Viso, F., Devine, P., Rego, S., Tenney, J., van Haeringen, A., Ruivenkamp, C. A. L., Koene, S., Robertson, S. P., Deshpande, C., Pfundt, R., Verbeek, N., van de Kamp, J. M., Weiss, J. M. M., Ruiz, A., Gabau, E., Banne, E., Pepler, A., Bottani, A., Laurent, S., Guipponi, M., Bijlsma, E., Bruel, A. L., Sorlin, A., Willis, M., Powis, Z., Smol, Thomas, Vincent-Delorme, C., Baralle, D., Colin, E., Revencu, N., Calpena, E., Wilkie, A. O. M., Chopra, M., Cormier-Daire, V., Keren, B., Afenjar, A., Niceta, M., Terracciano, A., Specchio, N., Tartaglia, M., Rio, M., Barcia, G., Rondeau, S., Colson, C., Bakkers, J., Mace, P. D., Bicknell, L. S., van Haaften, G.

المساهمون: Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), University of Otago Dunedin, Nouvelle-Zélande, Universiteit Utrecht / Utrecht University Utrecht

المصدر: ISSN: 0002-9297.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/35202563; hal-04617262; https://hal.univ-lille.fr/hal-04617262; https://hal.univ-lille.fr/hal-04617262/document; https://hal.univ-lille.fr/hal-04617262/file/PIIS0002929722000544.pdf; PUBMED: 35202563

الاتاحة: https://hal.univ-lille.fr/hal-04617262
https://hal.univ-lille.fr/hal-04617262/document
https://hal.univ-lille.fr/hal-04617262/file/PIIS0002929722000544.pdf
https://doi.org/10.1016/j.ajhg.2022.02.003

المؤلفون: Riney, K, Bogacz, A, Somerville, E, Hirsch, E, Nabbout, R, Scheffer, IE, Zuberi, SM, Alsaadi, T, Jain, S, French, J, Specchio, N, Trinka, E, Wiebe, S, Auvin, S, Cabral-Lim, L, Naidoo, A, Perucca, E, Moshe, SL, Wirrell, EC, Tinuper, P

Relation: Riney, K., Bogacz, A., Somerville, E., Hirsch, E., Nabbout, R., Scheffer, I. E., Zuberi, S. M., Alsaadi, T., Jain, S., French, J., Specchio, N., Trinka, E., Wiebe, S., Auvin, S., Cabral-Lim, L., Naidoo, A., Perucca, E., Moshe, S. L., Wirrell, E. C. & Tinuper, P. (2022). International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions. EPILEPSIA, 63 (6), pp.1443-1474. https://doi.org/10.1111/epi.17240.; http://hdl.handle.net/11343/308563

الاتاحة: http://hdl.handle.net/11343/308563

المؤلفون: Specchio, N, Wirrell, EC, Scheffer, IE, Nabbout, R, Riney, K, Samia, P, Guerreiro, M, Gwer, S, Zuberi, SM, Wilmshurst, JM, Yozawitz, E, Pressler, R, Hirsch, E, Wiebe, S, Cross, HJ, Perucca, E, Moshe, SL, Tinuper, P, Auvin, S

Relation: Specchio, N., Wirrell, E. C., Scheffer, I. E., Nabbout, R., Riney, K., Samia, P., Guerreiro, M., Gwer, S., Zuberi, S. M., Wilmshurst, J. M., Yozawitz, E., Pressler, R., Hirsch, E., Wiebe, S., Cross, H. J., Perucca, E., Moshe, S. L., Tinuper, P. & Auvin, S. (2022). International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions. EPILEPSIA, 63 (6), pp.1398-1442. https://doi.org/10.1111/epi.17241.; http://hdl.handle.net/11343/308564

الاتاحة: http://hdl.handle.net/11343/308564

المؤلفون: Wirrell, EC, Nabbout, R, Scheffer, IE, Alsaadi, T, Bogacz, A, French, JA, Hirsch, E, Jain, S, Kaneko, S, Riney, K, Samia, P, Snead, OC, Somerville, E, Specchio, N, Trinka, E, Zuberi, SM, Balestrini, S, Wiebe, S, Cross, JH, Perucca, E, Moshe, SL, Tinuper, P

Relation: Wirrell, E. C., Nabbout, R., Scheffer, I. E., Alsaadi, T., Bogacz, A., French, J. A., Hirsch, E., Jain, S., Kaneko, S., Riney, K., Samia, P., Snead, O. C., Somerville, E., Specchio, N., Trinka, E., Zuberi, S. M., Balestrini, S., Wiebe, S., Cross, J. H. ,. Tinuper, P. (2022). Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions. EPILEPSIA, 63 (6), pp.1333-1348. https://doi.org/10.1111/epi.17237.; http://hdl.handle.net/11343/310680

الاتاحة: http://hdl.handle.net/11343/310680

المؤلفون: Hirsch, E, French, J, Scheffer, IE, Bogacz, A, Alsaadi, T, Sperling, MR, Abdulla, F, Zuberi, SM, Trinka, E, Specchio, N, Somerville, E, Samia, P, Riney, K, Nabbout, R, Jain, S, Wilmshurst, JM, Auvin, S, Wiebe, S, Perucca, E, Moshe, SL, Tinuper, P, Wirrell, EC

Relation: Hirsch, E., French, J., Scheffer, I. E., Bogacz, A., Alsaadi, T., Sperling, M. R., Abdulla, F., Zuberi, S. M., Trinka, E., Specchio, N., Somerville, E., Samia, P., Riney, K., Nabbout, R., Jain, S., Wilmshurst, J. M., Auvin, S., Wiebe, S., Perucca, E. ,. Wirrell, E. C. (2022). ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions. EPILEPSIA, 63 (6), pp.1475-1499. https://doi.org/10.1111/epi.17236.; http://hdl.handle.net/11343/310679

الاتاحة: http://hdl.handle.net/11343/310679

المؤلفون: Zuberi, SM, Wirrell, E, Yozawitz, E, Wilmshurst, JM, Specchio, N, Riney, K, Pressler, R, Auvin, S, Samia, P, Hirsch, E, Galicchio, S, Triki, C, Snead, OC, Wiebe, S, Cross, JH, Tinuper, P, Scheffer, IE, Perucca, E, Moshe, SL, Nabbout, R

Relation: Zuberi, S. M., Wirrell, E., Yozawitz, E., Wilmshurst, J. M., Specchio, N., Riney, K., Pressler, R., Auvin, S., Samia, P., Hirsch, E., Galicchio, S., Triki, C., Snead, O. C., Wiebe, S., Cross, J. H., Tinuper, P., Scheffer, I. E., Perucca, E., Moshe, S. L. & Nabbout, R. (2022). ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions. EPILEPSIA, 63 (6), pp.1349-1397. https://doi.org/10.1111/epi.17239.; http://hdl.handle.net/11343/310708

الاتاحة: http://hdl.handle.net/11343/310708

المؤلفون: Tassi, L, Specchio, N, Mecarelli, O, Tinuper, P, Vigevano, F, Perucca, E

Relation: pii: S2589-9864(22)00030-2; Tassi, L., Specchio, N., Mecarelli, O., Tinuper, P., Vigevano, F. & Perucca, E. (2022). The 50th anniversary of the Italian League Against Epilepsy Italiana Contro q. EPILEPSY & BEHAVIOR REPORTS, 19, https://doi.org/10.1016/j.ebr.2022.100553.; http://hdl.handle.net/11343/335886

الاتاحة: http://hdl.handle.net/11343/335886

المؤلفون: Stevelink, R, Al-Toma, D, Jansen, FE, Lamberink, HJ, Asadi-Pooya, AA, Farazdaghi, M, Cacao, G, Jayalakshmi, S, Patil, A, Ozkara, C, Aydin, S, Gesche, J, Beier, CP, Stephen, LJ, Brodie, MJ, Unnithan, G, Radhakrishnan, A, Hofler, J, Trinka, E, Krause, R, Irelli, EC, Di Bonaventura, C, Szaflarski, JP, Hernandez-Vanegas, LE, Moya-Alfaro, ML, Zhang, Y, Zhou, D, Pietrafusa, N, Specchio, N, Japaridze, G, Beniczky, S, Janmohamed, M, Kwan, P, Syvertsen, M, Selmer, KK, Vorderwulbecke, BJ, Holtkamp, M, Viswanathan, LG, Sinha, S, Baykan, B, Altindag, E, von Podewils, F, Schulz, J, Seneviratne, U, Viloria-Alebesque, A, Karakis, I, D'Souza, WJ, Sander, JW, Koeleman, BPC, Otte, WM, Braun, KPJ

Relation: pii: S2589-5370(22)00462-X; Stevelink, R., Al-Toma, D., Jansen, F. E., Lamberink, H. J., Asadi-Pooya, A. A., Farazdaghi, M., Cacao, G., Jayalakshmi, S., Patil, A., Ozkara, C., Aydin, S., Gesche, J., Beier, C. P., Stephen, L. J., Brodie, M. J., Unnithan, G., Radhakrishnan, A., Hofler, J., Trinka, E. ,. Braun, K. P. J. (2022). Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy: A systematic review and individual participant data meta-analysis. ECLINICALMEDICINE, 53, https://doi.org/10.1016/j.eclinm.2022.101732.; http://hdl.handle.net/11343/335401

الاتاحة: http://hdl.handle.net/11343/335401

المؤلفون: Baumgartner T., Carreno M., Rocamora R., Bisulli F., Boni A., Brazdil M., Horak O., Craiu D., Pereira C., Guerrini R., San Antonio-Arce V., Schulze-Bonhage A., Zuberi S. M., Hallbook T., Kalviainen R., Lagae L., Nguyen S., Quintas S., Franco A., Cross J. H., Walker M., Arzimanoglou A., Rheims S., Granata T., Canafoglia L., Johannessen Landmark C., Sen A., Rattihalli R., Nabbout R., Tartara E., Santos M., Rangel R., Krsek P., Marusic P., Specchio N., Braun K. P. J., Smeyers P., Villanueva V., Kotulska K., Surges R., Tinuper P., Licchetta L., Michelucci R., Toulouse J., Panagiotakaki E., Ostrowsky-Coste K., Lesca G., de Curtis M., Elisak M., Domanska-Pakiea D., Sadowski K.

المساهمون: Baumgartner T., Carreno M., Rocamora R., Bisulli F., Boni A., Brazdil M., Horak O., Craiu D., Pereira C., Guerrini R., San Antonio-Arce V., Schulze-Bonhage A., Zuberi S.M., Hallbook T., Kalviainen R., Lagae L., Nguyen S., Quintas S., Franco A., Cross J.H., Walker M., Arzimanoglou A., Rheims S., Granata T., Canafoglia L., Johannessen Landmark C., Sen A., Rattihalli R., Nabbout R., Tartara E., Santos M., Rangel R., Krsek P., Marusic P., Specchio N., Braun K.P.J., Smeyers P., Villanueva V., Kotulska K., Surges R., Tinuper P., Licchetta L., Michelucci R., Toulouse J., Panagiotakaki E., Ostrowsky-Coste K., Lesca G., de Curtis M., Elisak M., Domanska-Pakiea D., Sadowski K.

مصطلحات موضوعية: autoimmune encephaliti, Dravet syndrome, orphan disease, progressive myoclonic epilepsy, targeted therapie, tuberous sclerosis complex

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000648553600018; volume:6; issue:1; firstpage:160; lastpage:170; numberofpages:11; journal:EPILEPSIA OPEN; info:eu-repo/grantAgreement/EC/FP7/602 391‐2; http://hdl.handle.net/11585/791516; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85099370222

الاتاحة: http://hdl.handle.net/11585/791516
https://doi.org/10.1002/epi4.12459
https://onlinelibrary.wiley.com/doi/full/10.1002/epi4.12459