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Titolo Data di pubblicazione Autore(i) File
Therapies in Aicardi-Goutières syndrome 1-gen-2014 Crow, Yj; Vanderver, A; Orcesi, S; Kuijpers, Tw; Rice, Gi.
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 1-gen-2015 Mina, Erika Della; Ciccone, Roberto; Brustia, Francesca; Bayindir, Baran; Limongelli, Ivan; Vetro, Annalisa; Iascone, Maria; Pezzoli, Laura; Bellazzi, Riccardo; Perotti, Gianfranco; DE GIORGIS, Valentina; Lunghi, Simona; Coppola, Giangennaro; Orcesi, Simona; Merli, Pietro; Savasta, Salvatore; Veggiotti, Pierangelo; Zuffardi, Orsetta
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 1-gen-2015 Decio, Alice; Tonduti, Davide; Pichiecchio, Anna; Vetro, Annalisa; Ciccone, Roberto; Limongelli, Ivan; Giorda, Roberto; Caffi, Lorella; Balottin, Umberto; Zuffardi, Orsetta; Orcesi, Simona
Altered PLP1 splicing causes hypomyelination of early myelinating structures 1-gen-2015 Kevelam, Sietske H.; Taube, Jennifer R.; van Spaendonk, Rosalina M. L.; Bertini, Enrico; Sperle, Karen; Tarnopolsky, Mark; Tonduti, Davide; Valente, ENZA MARIA; Travaglini, Lorena; Sistermans, Erik A.; Bernard, Genevieve; Catsman Berrevoets, Coriene E.; van Karnebeek, Clara D. M.; Ostergaard, John R.; Friederich, Richard L.; Elsaid, Mahmoud Fawzi; Schieving, Jolanda H.; Tarailo Graovac, Maja; Orcesi, Simona; Steenweg, Marjan E.; van Berkel, Carola G. M.; Waisfisz, Quinten; Abbink, Truus E. M.; van der Knaap, Marjo S.; Hobson, Grace M.; Wolf, Nicole I.
Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition 1-gen-2015 Vanderver, A; Prust, M; Kadom, N; Demarest, S; Crow, Yj; Helman, G; Orcesi, S; La Piana, R; Uggetti, C; Wang, J; Gordisch-Dressman, H; van der Knaap, Ms; Livingston, Jh.
Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies 1-gen-2015 Cuadrado, E; Vanderver, A; Brown, Kj; Sandza, A; Takanohashi, A; Jansen, Mh; Anink, J; Herron, B; Orcesi, S; Olivieri, I; Rice, Gi; Aronica, E; Lebon, P; Crow, Yj; Hol, Em; Kuijpers, Tw.
Typing TREX1 gene in patients with systemic lupus erythematosus 1-gen-2015 Fredi, M; Bianchi, M; Andreoli, L; Greco, G; Olivieri, I; Orcesi, S; Fazzi, E; Cereda, C; Tincani, A.
Complexity of parental prenatal attachment during pregnancy at risk for preterm delivery 1-gen-2015 Pisoni, Camilla; Garofoli, Francesca; Tzialla, Chryssoula; Orcesi, Simona; Spinillo, Arsenio; Politi, Pierluigi; Balottin, Umberto
Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instability. 1-gen-2015 Pizzi, S; Sertic, S; Orcesi, S; Cereda, C; Bianchi, M; Jackson, Ap; Lazzaro, F; Plevani, P; Muzi-Falconi, M.
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 1-gen-2015 Mina, E. D.; Ciccone, R.; Brustia, F.; Bayindir, B.; Limongelli, I.; Vetro, A.; Iascone, M.; Pezzoli, L.; Bellazzi, R.; Perotti, G.; De Giorgis, V.; Lunghi, S.; Coppola, G.; Orcesi, S.; Merli, P.; Savasta, S.; Veggiotti, P.; Zuffardi, O.
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 1-gen-2015 Crow, Yanick J.; Chase, Diana S.; Schmidt, Johanna Lowenstein; Szynkiewicz, Marcin; Forte, Gabriella M. A.; Gornall, Hannah L.; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel Hamid, Mohamed S.; Abdel Salam, Ghada M.; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Catherine; Allon Shalev, Stavit; Arellano, Montse; Ariaudo, Giada; Aswani, Vijay; Babul Hirji, Riyana; Baildam, Eileen M.; Bahi Buisson, Nadia; Bailey, Kathryn M.; Barnerias, Christine; Barth, Magalie; Battini, Roberta; Beresford, Michael W.; Bernard, Genevieve; Bianchi, Marika; de Villemeur, Thierry Billette; Blair, Edward M.; Bloom, Miriam; Burlina, Alberto B.; Carpanelli, Maria Luisa; Carvalho, Daniel R.; Castro Gago, Manuel; Cavallini, Anna; Cereda, Cristina; Chandler, Kate E.; Chitayat, David A.; Collins, Abigail E.; Sierra Corcoles, Concepcion; Cordeiro, Nuno J. V.; Crichiutti, Giovanni; Dabydeen, Lyvia; Dale, Russell C.; D'Arrigo, Stefano; De Goede, Christian G. E. L.; De Laet, Corinne; De Waele, Liesbeth M. H.; Denzler, Ines; Desguerre, Isabelle; Devriendt, Koenraad; Di Rocco, Maja; Fahey, Michael C.; Fazzi, ELISA MARIA; Ferrie, Colin D.; Figueiredo, Antonio; Gener, Blanca; Goizet, Cyril; Gowrinathan, Nirmala R.; Gowrishankar, Kalpana; Hanrahan, Donncha; Isidor, Bertrand; Kara, Lent; Khan, Nasaim; King, Mary D.; Kirk, Edwin P.; Kumar, Ram; Lagae, Lieven; Landrieu, Pierre; Lauffer, Heinz; Laugel, Vincent; La Piana, Roberta; Lim, Ming J.; Lin, Jean Pierre S. M.; Linnankivi, Tarja; Mackay, Mark T.; Marom, Daphna R.; Lourenco, Charles Marques; Mckee, Shane A.; Moroni, Isabella; Morton, Jenny E. V.; Moutard, Marie Laure; Murray, Kevin; Nabbout, Rima; Nampoothiri, Sheela; Nunez Enamorado, Noemi; Oades, Patrick J.; Olivieri, Ivana; Ostergaard, John R.; Perez Duenas, Belen; Prendiville, Julie S.; Ramesh, Venkateswaran; Rasmussen, Magnhild; Regal, Luc; Ricci, Federica; Rio, Marlene; Rodriguez, Diana; Roubertie, Agathe; Salvatici, Elisabetta; Segers, Karin A.; Sinha, Gyanranjan P.; Soler, Doriette; Spiegel, Ronen; Stoedberg, Tommy I.; Straussberg, Rachel; Swoboda, Kathryn J.; Suri, Mohnish; Tacke, Uta; Tan, Tiong Y.; Naude, Johann te Water; Teik, Keng Wee; Thomas, Maya Mary; Till, Marianne; Tonduti, Davide; Valente, ENZA MARIA; Van Coster, Rudy Noel; van der Knaap, Marjo S.; Vassallo, Grace; Vijzelaar, Raymon; Vogt, Julie; Wallace, Geoffrey B.; Wassmer, Evangeline; Webb, Hannah J.; Whitehouse, William P.; Whitney, Robyn N.; Zaki, Maha S.; Zuberi, Sameer M.; Livingston, John H.; Rozenberg, Flore; Lebon, Pierre; Vanderver, Adeline; Orcesi, Simona; Rice, Gillian I.
Obstetric risk factors and time trends of neurodevelopmental outcome at 2 years in very-low-birthweight infants: A single institution study 1-gen-2015 Gardella, Barbara; Iacobone, ANNA DANIELA; Bogliolo, Stefano; Musacchi, Valentina; Orcesi, Simona; Tzialla, Chryssoulla; Spinillo, Arsenio
Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome 1-gen-2016 Tonduti, D; Orcesi, S; Jenkinson, Em; Dorboz, I; Renaldo, F; Panteghini, C; Rice, Gi; Henneke, M; Livingston, Jh; Elmaleh, M; Burglen, L; Willemsen, Ma; Chiapparini, L; Garavaglia, B; Rodriguez, D; Boespflug-Tanguy, O; Moroni, I; Crow, Yj.
Near-Infrared Spectroscopy Monitoring, Superior Vena Cava Flow, and Neurodevelopmental Outcome at 2 years in a Cohort of Very Low-Birth-Weight Infants 1-gen-2016 Cerbo, ROSA MARIA; Orcesi, Simona; Scudeller, Luigia; Borellini, Martina; Croci, Carolina; Ravelli, Claudia; Masa, Giulia; Paolillo, Piermichele; Manzoni, Paolo; Balottin, Umberto; Stronati, Mauro
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients 1-gen-2016 Tonduti, D.; Aiello, C.; Renaldo, F.; Dorboz, I.; Saaman, S.; Rodriguez, D.; Fettah, H.; Elmaleh, M.; Biancheri, R.; Barresi, S.; Boccone, L.; Orcesi, S.; Pichiecchio, A.; Zangaglia, R.; Maurey, H.; Rossi, A.; Boespflug-Tanguy, O.; Bertini, E.
Patient-reported outcomes measure for children born preterm: Validation of the SOLE VLBWI Questionnaire, a new quality of life self-assessment tool 1-gen-2016 Olivieri, Ivana; Bova, Stefania M.; Fazzi, Elisa; Ricci, Daniela; Tinelli, Francesca; Montomoli, Cristina; Rezzani, Cristiana; Balottin, Umberto; Orcesi, Simona
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome 1-gen-2016 LA PIANA, Roberta; Uggetti, Carla; Roncarolo, Federico; Vanderver, Adeline; Olivieri, Ivana; Tonduti, Davide; Helman, Guy; Balottin, Umberto; Fazzi, ELISA MARIA; Crow, Yanick J.; Livingston, John; Orcesi, Simona
Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi-Goutières Syndrome 1-gen-2016 Cattalini, M; Galli, J; Andreoli, L; Olivieri, I; Ariaudo, G; Fredi, M; IAGSA study, Group; Orcesi, S; Tincani, A; Fazzi, E.
An Italian Prospective Experience on the Association Between Congenital Cytomegalovirus Infection and Autistic Spectrum Disorder 1-gen-2017 Garofoli, Francesca; Lombardi, Giuseppina; Orcesi, Simona; Pisoni, Camilla; Mazzucchelli, Iolanda; Angelini, Micol; Balottin, Umberto; Stronati, Mauro
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease 1-gen-2017 Rice, Gi; Kitabayashi, N; Barth, M; Briggs, Ta; Burton, Ac; Carpanelli, Ml; Cerisola, Am; Colson, C; Dale, Rc; Danti, Fr; Darin, N; De Azua, B; De Giorgis, V; De Goede, Cg; Desguerre, I; De Laet, C; Eslahi, A; Fahey, Mc; Fallon, P; Fay, A; Fazzi, E; Gorman, Mp; Gowrinathan, Nr; Hully, M; Kurian, Ma; Leboucq, N; Lin, Js; Lines, Ma; Mar, Ss; Maroofian, R; Martí-Sanchez, L; Mccullagh, G; Mojarrad, M; Narayanan, V; Orcesi, S; Ortigoza-Escobar, Jd; Pérez-Dueñas, B; Petit, F; Ramsey, Km; Rasmussen, M; Rivier, F; Rodríguez-Pombo, P; Roubertie, A; Stödberg, Ti; Toosi, Mb; Toutain, A; Uettwiller, F; Ulrick, N; Vanderver, A; Waldman, A; Livingston, Jh; Crow, Yj.
Mostrati risultati da 41 a 60 di 130
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