Sfoglia per Autore
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
2024 Jain, Shantanu; Bakolitsa, Constantina; E Brenner, Steven; Radivojac, Predrag; Moult, John; Repo, Susanna; A Hoskins, Roger; Andreoletti, Gaia; Barsky, Daniel; Chellapan, Ajithavalli; Chu, Hoyin; Dabbiru, Navya; K Kollipara, Naveen; Ly, Melissa; J Neumann, Andrew; R Pal, Lipika; Odell, Eric; Pandey, Gaurav; C Peters-Petrulewicz, Robin; Srinivasan, Rajgopal; F Yee, Stephen; Jyothsna Yeleswarapu, Sri; Zuhl, Maya; Adebali, Ogun; Patra, Ayoti; A Beer, Michael; Hosur, Raghavendra; Peng, Jian; M Bernard, Brady; Berry, Michael; Dong, Shengcheng; P Boyle, Alan; Adhikari, Aashish; Chen, Jingqi; Hu, Zhiqiang; Wang, Robert; Wang, Yaqiong; Miller, Maximilian; Wang, Yanran; Bromberg, Yana; Turina, Paola; Capriotti, Emidio; J Han, James; Ozturk, Kivilcim; Carter, Hannah; Babbi, Giulia; Bovo, Samuele; Di Lena, Pietro; Luigi Martelli, Pier; Savojardo, Castrense; Casadio, Rita; S Cline, Melissa; De Baets, Greet; Bonache, Sandra; Díez, Orland; Gutiérrez-Enríquez, Sara; Fernández, Alejandro; Montalban, Gemma; Ootes, Lars; Özkan, Selen; Padilla, Natàlia; Riera, Casandra; De la Cruz, Xavier; Diekhans, Mark; J Huwe, Peter; Wei, Qiong; Xu, Qifang; L Dunbrack, Roland; Gotea, Valer; Elnitski, Laura; Margolin, Gennady; Fariselli, Piero; V Kulakovskiy, Ivan; J Makeev, Vsevolod; D Penzar, Dmitry; E Vorontsov, Ilya; V Favorov, Alexander; R Forman, Julia; Hasenahuer, Marcia; S Fornasari, Maria; Parisi, Gustavo; Avsec, Ziga; H Çelik, Muhammed; Yen Duong Nguyen, Thi; Gagneur, Julien; Shi, Fang-Yuan; D Edwards, Matthew; Guo, Yuchun; Tian, Kevin; Zeng, Haoyang; K Gifford, David; Göke, Jonathan; Zaucha, Jan; Gough, Julian; S Ritchie, Graham R; Frankish, Adam; M Mudge, Jonathan; Harrow, Jennifer; L Young, Erin; Yu, Yao; D Huff, Chad; Murakami, Katsuhiko; Nagai, Yoko; Imanishi, Tadashi; J Mungall, Christopher; B Jacobsen, Julius O; Kim, Dongsup; Jeong, Chan-Seok; T Jones, David; Jun Li, Mulin; Beleva Guthrie, Violeta; Bhattacharya, Rohit; Chen, Yun-Ching; Douville, Christopher; Fan, Jean; Kim, Dewey; Masica, David; Niknafs, Noushin; Sengupta, Sohini; Tokheim, Collin; N Turner, Tychele; Ting Grace Yeo, Hui; Karchin, Rachel; Shin, Sunyoung; Welch, Rene; Keles, Sunduz; Li, Yue; Kellis, Manolis; Corbi-Verge, Carles; V Strokach, Alexey; M Kim, Philip; E Klein, Teri; Mohan, Rahul; A Sinnott-Armstrong, Nicholas; Wainberg, Michael; Kundaje, Anshul; Gonzaludo, Nina; Y Mak, Angel C; Chhibber, Aparna; K Lam, Hugo Y; Dahary, Dvir; Fishilevich, Simon; Lancet, Doron; Lee, Insuk; Bachman, Benjamin; Katsonis, Panagiotis; C Lua, Rhonald; J Wilson, Stephen; Lichtarge, Olivier; R Bhat, Rajendra; Sundaram, Laksshman; Viswanath, Vivek; Bellazzi, Riccardo; Nicora, Giovanna; Rizzo, Ettore; Limongelli, Ivan; M Mezlini, Aziz; Chang, Ray; Kim, Serra; Lai, Carmen; O'Connor, Robert; Topper, Scott; van den Akker, Jeroen; Y Zhou, Alicia; D Zimmer, Anjali; Mishne, Gilad; R Bergquist, Timothy; R Breese, Marcus; F Guerrero, Rafael; Jiang, Yuxiang; Kiga, Nikki; Li, Biao; Mort, Matthew; A Pagel, Kymberleigh; Pejaver, Vikas; H Stamboulian, Moses; Thusberg, Janita; D Mooney, Sean; Teerakulkittipong, Nuttinee; Cao, Chen; Kundu, Kunal; Yin, Yizhou; Yu, Chen-Hsin; Kleyman, Michael; Lin, Chiao-Feng; Stackpole, Mary; M Mount, Stephen; Eraslan, Gökcen; S Mueller, Nikola; Naito, Tatsuhiko; R Rao, Aliz; R Azaria, Johnathan; Brodie, Aharon; Ofran, Yanay; Garg, Aditi; Pal, Debnath; Hawkins-Hooker, Alex; Kenlay, Henry; Reid, John; J Mucaki, Eliseos; K Rogan, Peter; M Schwarz, Jana; B Searls, David; Rie Lee, Gyu; Seok, Chaok; Krämer, Andreas; Shah, Sohela; V Huang, Chenglai; F Kirsch, Jack; Shatsky, Maxim; Cao, Yue; Chen, Haoran; Karimi, Mostafa; Moronfoye, Oluwaseyi; Sun, Yuanfei; Shen, Yang; Shigeta, Ron; T Ford, Colby; Nodzak, Conor; Uppal, Aneeta; Shi, Xinghua; Joseph, Thomas; Kotte, Sujatha; Rana, Sadhna; Rao, Aditya; G Saipradeep, V; Sivadasan, Naveen; Sunderam, Uma; Stanke, Mario; Su, Andrew; Adzhubey, Ivan; M Jordan, Daniel; Sunyaev, Shamil; Rousseau, Frederic; Schymkowitz, Joost; Van Durme, Joost; V Tavtigian, Sean; Carraro, Marco; Giollo, Manuel; Tosatto, Silvio; Adato, Orit; Carmel, Liran; E Cohen, Noa; Fenesh, Tzila; Holtzer, Tamar; Juven-Gershon, Tamar; Unger, Ron; Niroula, Abhishek; Olatubosun, Ayodeji; Väliaho, Jouni; Yang, Yang; Vihinen, Mauno; E Wahl, Mary; Chang, Billy; Chun Chong, Ka; Hu, Inchi; Sun, Rui; Ka Kei Wu, William; Xia, Xiaoxuan; C Zee, Benny; H Wang, Maggie; Wang, Meng; Wu, Chunlei; Lu, Yutong; Chen, Ken; Yang, Yuedong; M Yates, Christopher; Kreimer, Anat; Yan, Zhongxia; Yosef, Nir; Zhao, Huying; Wei, Zhipeng; Yao, Zhaomin; Zhou, Fengfeng; Folkman, Lukas; Zhou, Yaoqi; Daneshjou, Roxana; B Altman, Russ; Inoue, Fumitaka; Ahituv, Nadav; P Arkin, Adam; Lovisa, Federica; Bonvini, Paolo; Bowdin, Sarah; Gianni, Stefano; Mantuano, Elide; Minicozzi, Velia; Novak, Leonore; Pasquo, Alessandra; Pastore, Annalisa; Petrosino, Maria; Puglisi, Rita; Toto, Angelo; Veneziano, Liana; Chiaraluce, Roberta; P Ball, Mad; R Bobe, Jason; M Church, George; Consalvi, Valerio; N Cooper, David; A Buckley, Bethany; B Sheridan, Molly; R Cutting, Garry; Chiara Scaini, Maria; J Cygan, Kamil; M Fredericks, Alger; T Glidden, David; Neil, Christopher; L Rhine, Christy; G Fairbrother, William; Y Alontaga, Aileen; W Fenton, Aron; A Matreyek, Kenneth; M Starita, Lea; M Fowler, Douglas; Löscher, Britt-Sabina; Franke, Andre; I Adamson, Scott; R Graveley, Brenton; W Gray, Joe; J Malloy, Mary; P Kane, John; Kousi, Maria; Katsanis, Nicholas; Schubach, Max; Kircher, Martin; Y Mak, Angel C; F Tang, Paul L; Kwok, Pui-Yan; H Lathrop, Richard; T Clark, Wyatt; K Yu, Guoying; H LeBowitz, Jonathan; Benedicenti, Francesco; Bettella, Elisa; Bigoni, Stefania; Cesca, Federica; Mammi, Isabella; Marino-Buslje, Cristina; Milani, Donatella; Peron, Angela; Polli, Roberta; Sartori, Stefano; Stanzial, Franco; Toldo, Irene; Turolla, Licia; C Aspromonte, Maria; Bellini, Mariagrazia; Leonardi, Emanuela; Liu, Xiaoming; Marshall, Christian; Richard McCombie, W; Elefanti, Lisa; Menin, Chiara; Stephen Meyn, M; Murgia, Alessandra; Y Nadeau, Kari C; L Neuhausen, Susan; L Nussbaum, Robert; Pirooznia, Mehdi; B Potash, James; F Dimster-Denk, Dago; D Rine, Jasper; R Sanford, Jeremy; Snyder, Michael; G Cote, Atina; Sun, Song; W Verby, Marta; Weile, Jochen; P Roth, Frederick; Tewhey, Ryan; C Sabeti, Pardis; Campagna, Joan; M Refaat, Marwan; Wojciak, Julianne; Grubb, Soren; Schmitt, Nicole; Shendure, Jay; B Spurdle, Amanda; J Stavropoulos, Dimitri; A Walton, Nephi; P Zandi, Peter; Ziv, Elad; Burke, Wylie; Chen, Flavia; R Carr, Lawrence; Martinez, Selena; Paik, Jodi; Harris-Wai, Julie; Yarborough, Mark; M Fullerton, Stephanie; A Koenig, Barbara; Mcinnes, Gregory; Shigaki, Dustin; Chandonia, John-Marc; Furutsuki, Mabel; Kasak, Laura; Yu, Changhua; Chen, Rui; Friedberg, Iddo; A Getz, Gad; Cong, Qian; N Kinch, Lisa; Zhang, Jing; V Grishin, Nick; Voskanian, Alin; G Kann, Maricel; Tran, Elizabeth; M Ioannidis, Nilah; M Hunter, Jesse; Udani, Rupa; Cai, Binghuang; A Morgan, Alexander; Sokolov, Artem; M Stuart, Joshua; Minervini, Giovanni; M Monzon, Alexander; Batzoglou, Serafim; J Butte, Atul; S Greenblatt, Marc; K Hart, Reece; Hernandez, Ryan; P Hubbard, Tim J; Kahn, Scott; O'Donnell-Luria, Anne; C Ng, Pauline; Shon, John; Veltman, Joris; M Zook, Justin
Early Immunotherapy and Longer Corticosteroid Treatment Are Associated With Lower Risk of Relapsing Disease Course in Pediatric MOGAD
2023 Nosadini, Margherita; Eyre, Michael; Giacomini, Thea; Valeriani, Massimiliano; Della Corte, Marida; Praticò, Andrea D; Annovazzi, Pietro; Cordani, Ramona; Cordelli, Duccio Maria; Crichiutti, Giovanni; Di Rosa, Gabriella; Dolcemascolo, Valentina; Fetta, Anna; Freri, Elena; Gallo, Paolo; Gastaldi, Matteo; Granata, Tiziana; Grazian, Luisa; Iorio, Raffaele; Lombardini, Martina; Margoni, Monica; Mariotto, Sara; Matricardi, Sara; Melani, Federico; Nardocci, Nardo; Papetti, Laura; Passarini, Alice; Pisani, Francesco; Po', Chiara; Puthenparampil, Marco; Ragona, Francesca; Savasta, Salvatore; Siliquini, Sabrina; Toldo, Irene; Tozzo, Alessandra; Turco, Emanuela Claudia; Varone, Antonio; Vogrig, Alberto; Zuliani, Luigi; Bugin, Samuela; Rossato, Sara; Orsini, Alessandro; Cantalupo, Gaetano; Mancardi, Maria Margherita; Ferilli, Michela Ada Noris; Foiadelli, Thomas; Sartori, Stefano
Efficacy and safety of ketamine for neonatal refractory status epilepticus: case report and systematic review
2023 Pin, Jn; Leonardi, L; Nosadini, M; Cavicchiolo, Me; Guariento, C; Zarpellon, A; Perilongo, G; Raffagnato, A; Toldo, I; Baraldi, E; Sartori, S
Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia: A Multicentric Cross-sectional Study.
2023 Toldo, I; Brunello, F; Cavasin, P; Nosadini, M; Sartori, S; Frigo, Ac; Mai, R; Pelliccia, V; Mancardi, Mm; Striano, P; Severino, M; Zara, F; Rizzi, R; Casellato, S; Di Rosa, G; Mastrangelo, M; Spalice, A; Budetta, M; De Palma, L; Guerrini, R; Pruna, D; Cordelli, Dm; Sofia, V; Papa, A; Chiesa, V; Ragona, F; Parisi, P; D'Aniello, A; Veggiotti, P; Dainese, F; Giordano, L; Licchetta, L; Tinuper, P; D'Orsi, G; Cassina, M; Manara, R.
Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia: A Multicentric Cross-sectional Study
2023 Toldo, Irene; Brunello, Francesco; Cavasin, Paola; Nosadini, Margherita; Sartori, Stefano; Frigo, ANNA CHIARA; Mai, Roberto; Pelliccia, Veronica; Margherita Mancardi, Maria; Striano, Pasquale; Severino, Marisavina; Zara, Federico; Rizzi, Romana; Casellato, Susanna; Di Rosa, Gabriella; Mastrangelo, Mario; Spalice, Alberto; Budetta, Mauro; De Palma, Luca; Guerrini, Renzo; Pruna, Dario; Maria Cordelli, Duccio; Sofia, Vito; Papa, Amanda; Chiesa, Valentina; Ragona, Francesca; Parisi, Pasquale; D'Aniello, Alfredo; Veggiotti, Pierangelo; Dainese Lucio Giordano, Filippo; Licchetta, Laura; Tinuper, Paolo; D'Orsi, Giuseppe; Cassina, Matteo; Manara, Renzo
Cold-Stimulus Headache in Children and Adolescents
2023 Bonemazzi, Ilaria; Federica Pelizza, Maria; Berti, Giulia; Ancona, Claudio; Nosadini, Margherita; Sartori, Stefano; Toldo, Irene
Hemiplegic Migraine in Children and Adolescents
2023 Bonemazzi, Ilaria; Brunello, Francesco; Norberto Pin, Jacopo; Pecoraro, Mattia; Sartori, Stefano; Nosadini, Margherita; Toldo, Irene
Neonatal Arterial Ischemic Stroke Secondary to Carotid Artery Dissection: A Case Report and Systematic Literature Review
2023 Baggio, Laura; Nosadini, Margherita; Pelizza, Maria Federica; Pin, Jacopo Norberto; Zarpellon, Anna; Tona, Clarissa; Perilongo, Giorgio; Simioni, Paolo; Toldo, Irene; Talenti, Giacomo; Sartori, Stefano
Electroclinical features in two novel STRADA patients and a functional yeast assay for the validation of missense STRADA mutations
2023 Ancora, Caterina; Marchi, Marco; Bonardi, Claudia Maria; Sartori, Geppo; Lopreiato, Raffaele; Zuccarello, Daniela; D'Errico, Ignazio; Nosadini, Margherita; Sartori, Stefano; Boniver, Clementina; Toldo, Irene; Salviati, Leonardo
Myoclonic super-refractory status epilepticus with favourable evolution in a teenager with FIRES: Is the association of vagus nerve stimulation and cannabidiol effective?
2023 Bonardi, Cm; Furlanis, Gm; Toldo, I; Guarrera, B; Luisi, C; Pettenazzo, A; Nosadini, M; Boniver, C; Sartori, S; Landi, A
The maturation of aperiodic EEG activity across development reveals a progressive differentiation of wakefulness from sleep
2023 Favaro, Jacopo; Angelo Colombo, Michele; Mikulan, Ezequiel; Sartori, Stefano; Nosadini, Margherita; Federica Pelizza, Maria; Rosanova, Mario; Sarasso, Simone; Massimini, Marcello; Toldo, Irene
Emotional Experience and Regulation in Juvenile Primary Headaches: A Cross-Sectional Pilot Study
2022 Miscioscia, Marina; Di Riso, Daniela; Spaggiari, Silvia; Poli, Mikael; Gaiga, Giacomo; Randazzo, Giacomo; Pelizza, Maria Federica; Galdiolo, Laura; Raffagnato, Alessia; Sartori, Stefano; Toldo, Irene
Autoimmune Encephalitis and Other Neurological Syndromes With Rare Neuronal Surface Antibodies in Children: A Systematic Literature Review.
2022 Ancona, Claudio; Masenello, Valentina; Tinnirello, Matteo; Toscano, LUCA MATTIA; Leo, Andrea; LA PIANA, Chiara; Toldo, Irene; Nosadini, Margherita; Sartori, Stefano
Pediatric Moyamoya Disease and Syndrome in Italy: A Multicenter Cohort
2022 Po', Chiara; Nosadini, Margherita; Zedde, Marialuisa; Pascarella, Rosario; Mirone, Giuseppe; Cicala, Domenico; Rosati, Anna; Cosi, Alessandra; Toldo, Irene; Colombatti, Raffaella; Martelli, Paola; Iodice, Alessandro; Accorsi, Patrizia; Giordano, Lucio; Savasta, Salvatore; Foiadelli, Thomas; Sanfilippo, Giuseppina; Lafe, Elvis; Zappoli Thyrion, Federico; Polonara, Gabriele; Campa, Serena; Raviglione, Federico; Scelsa, Barbara; Maria Bova, Stefania; Greco, Filippo; Maria Cordelli, Duccio; Cirillo, Luigi; Toni, Francesco; Baro, Valentina; Causin, Francesco; Frigo, ANNA CHIARA; Suppiej, Agnese; Sainati, Laura; Azzolina, Danila; Agostini, Manuela; Cesaroni, Elisabetta; De Carlo, Luigi; Di Rosa, Gabriella; Esposito, Giacomo; Grazian, Luisa; Morini, Giovanna; Nicita, Francesco; Felicia Operto, Francesca; Pruna, Dario; Ragazzi, Paola; Rollo, Massimo; Spalice, Alberto; Striano, Pasquale; Skabar, Aldo; Alberto Lanterna, Luigi; Carai, Andrea; Efisio Marras, Carlo; Manara, Renzo; Sartori, Stefano
Sleep disorders and neuropsychiatric disorders in a pediatric sample of tuberous sclerosis complex: a questionnaire-based study
2022 Moavero, R.; Voci, A.; La Briola, F.; Matricardi, S.; Toldo, I.; Mancardi, M. M.; Negrin, S.; Messana, T.; Mazzone, L.; Valeriani, M.; Curatolo, P.; Bruni, O.
Epilepsy in NF1: Epidemiologic, genetic, and clinical features. a monocentric retrospective study in a cohort of 784 patients
2021 Sorrentino, U.; Bellonzi, S.; Mozzato, C.; Brasson, V.; Toldo, I.; Parrozzani, R.; Clementi, M.; Cassina, M.; Trevisson, E.
Seizure outcome after epilepsy surgery in tuberous sclerosis complex: Results and analysis of predictors from a multicenter study
2021 Vannicola, C.; Tassi, L.; Barba, C.; Boniver, C.; Cossu, M.; de Curtis, M.; De Palma, L.; D'Errico, I.; Didato, G.; Guerrini, R.; La Briola, F.; Luisi, C.; Mai, R.; Mari, F.; Marras, C.; Mastrangelo, M.; Peron, A.; Specchio, N.; Toldo, I.; Turner, K.; Vignoli, A.; Canevini, M. P.
Sleep Exacerbations and Facial Twitching: Diagnostic Clues for ADCY5 -Related Dyskinesias
2021 Nosadini, M.; D'Onofrio, G.; Pelizza, M. F.; Luisi, C.; Padrin, D.; Baggio, L.; Zorzi, G. S.; Toldo, I.; Sartori, S.
I stay at home with headache. A survey to investigate how the lockdown for COVID-19 impacted on headache in Italian children
2020 Papetti, L.; Loro, P. A. D.; Tarantino, S.; Grazzi, L.; Guidetti, V.; Parisi, P.; Raieli, V.; Sciruicchio, V.; Termine, C.; Toldo, I.; Tozzi, E.; Verdecchia, P.; Carotenuto, M.; Battisti, M.; Celi, A.; D'Agnano, D.; Faedda, N.; Ferilli, M. A. N.; Grillo, G.; Natalucci, G.; Onofri, A.; Pelizza, M. F.; Ursitti, F.; Vasta, M.; Velardi, M.; Balestri, M.; Moavero, R.; Vigevano, F.; Valeriani, M.
Pediatric Central Nervous System Tumors as Phenotypic Manifestation of Cancer Predisposition Syndromes
2020 Perilongo, Giorgio; Toldo, Irene; Sartori, Stefano
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