ORCESI, SIMONA

ORCESI, SIMONA  

DIPARTIMENTO DI SCIENZE DEL SISTEMA NERVOSO E DEL COMPORTAMENTO  

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The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS 1-gen-2022 Cetin Gedik, K.; Lamot, L.; Romano, M.; Demirkaya, E.; Piskin, D.; Torreggiani, S.; Adang, L. A.; Armangue, T.; Barchus, K.; Cordova, D. R.; Crow, Y. J.; Dale, R. C.; Durrant, K. L.; Eleftheriou, D.; Fazzi, E. M.; Gattorno, M.; Gavazzi, F.; Hanson, E. P.; Lee-Kirsch, M. A.; Montealegre Sanchez, G. A.; Neven, B.; Orcesi, S.; Ozen, S.; Poli, M. C.; Schumacher, E.; Tonduti, D.; Uss, K.; Aletaha, D.; Feldman, B. M.; Vanderver, A.; Brogan, P. A.; Goldbach-Mansky, R.
Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up 1-gen-2009 Uggetti, C; LA PIANA, R; Orcesi, S; Egitto, Mg; Crow, Yj; Fazzi, E
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.
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome 1-gen-2020 Gana, S.; Plumari, M.; Rossi, E.; Saracino, A.; Iorio, M.; Zanaboni, M. P.; Orcesi, S.; Valente, E. M.
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.
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity 1-gen-2021 Gana, S.; Casella, A.; Cociglio, S.; Tartara, E.; Rognone, E.; Giorgio, E.; Pichiecchio, A.; Orcesi, S.; Valente, E. M.
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome 1-gen-2021 Masnada, S.; Pichiecchio, A.; Formica, M.; Arrigoni, F.; Borrelli, P.; Accorsi, P.; Bonanni, P.; Borgatti, R.; Bernardina, B. D.; Danieli, A.; Darra, F.; Deconinck, N.; De Giorgis, V.; Dulac, O.; Gataullina, S.; Giordano, L.; Guerrini, R.; La Briola, F.; Mastrangelo, M.; Montomoli, M.; Mortilla, M.; Osanni, E.; Parisi, P.; Perucca, E.; Pinelli, L.; Romaniello, R.; Severino, M.; Vigevano, F.; Vignoli, A.; Bahi-Buisson, N.; Cavallin, M.; Accogli, A.; Burgeois, M.; Capra, V.; Chaves-Vischer, V.; Chiapparini, L.; Colafati, G.; D'Arrigo, S.; Desguerre, I.; Doco-Fenzy, M.; D'Orsi, G.; Epitashvili, N.; Fazzi, E.; Ferretti, A.; Fiorini, E.; Fradin, M.; Fusco, C.; Granata, T.; Johannesen, K. M.; Lebon, S.; Loget, P.; Moller, R. S.; Montanaro, D.; Orcesi, S.; Quelin, C.; Rebessi, E.; Romeo, A.; Solazzi, R.; Spagnoli, C.; Uebler, C.; Zara, F.; Arzimanoglou, A.; Veggiotti, P.
Biomarkers and Precision Therapy for Primary Immunodeficiencies: An In Vitro Study Based on Induced Pluripotent Stem Cells From Patients 1-gen-2020 Genova, E.; Cavion, F.; Lucafo, M.; Pelin, M.; Lanzi, G.; Masneri, S.; Ferraro, R. M.; Fazzi, E. M.; Orcesi, S.; Decorti, G.; Tommasini, A.; Giliani, S.; Stocco, G.
Body composition and energy expenditure in Duchenne muscular dystrophy 1-gen-2003 Zanardi, M. C.; Tagliabue, Anna; Orcesi, S.; Berardinelli, A.; Uggetti, C.; Pichiecchio, Anna
Calcifying leukoencephalopathies: new overlapping phenotypes 1-gen-2012 Orcesi, S; Tonduti, D; La Piana, R.
Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi–Goutières Syndrome 1-gen-2021 Garau, J.; Masnada, S.; Dragoni, F.; Sproviero, D.; Fogolari, F.; Gagliardi, S.; Izzo, G.; Varesio, C.; Orcesi, S.; Veggiotti, P.; Zuccotti, G. V.; Pansarasa, O.; Tonduti, D.; Cereda, C.
Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation 1-gen-2021 Cattalini, M.; Galli, J.; Zunica, F.; Ferraro, R. M.; Carpanelli, M.; Orcesi, S.; Palumbo, G.; Pinelli, L.; Giliani, S.; Fazzi, E.; Badolato, R.
Cerebral cavernous angiomas: an atypical case in infancy 1-gen-1997 Lanzi, G; Fazzi, E; Orcesi, S; Cavallini, A; Danova, S; Uggetti, C; Egitto, Mg
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing 1-gen-2020 Uggenti, C.; Lepelley, A.; Depp, M.; Badrock, A. P.; Rodero, M. P.; El-Daher, M. -T.; Rice, G. I.; Dhir, S.; Wheeler, A. P.; Dhir, A.; Albawardi, W.; Fremond, M. -L.; Seabra, L.; Doig, J.; Blair, N.; Martin-Niclos, M. J.; Della Mina, E.; Rubio-Roldan, A.; Garcia-Perez, J. L.; Sproul, D.; Rehwinkel, J.; Hertzog, J.; Boland-Auge, A.; Olaso, R.; Deleuze, J. -F.; Baruteau, J.; Brochard, K.; Buckley, J.; Cavallera, V.; Cereda, C.; De Waele, L. M. H.; Dobbie, A.; Doummar, D.; Elmslie, F.; Koch-Hogrebe, M.; Kumar, R.; Lamb, K.; Livingston, J. H.; Majumdar, A.; Lorenco, C. M.; Orcesi, S.; Peudenier, S.; Rostasy, K.; Salmon, C. A.; Scott, C.; Tonduti, D.; Touati, G.; Valente, M.; van der Linden, H.; Van Esch, H.; Vermelle, M.; Webb, K.; Jackson, A. P.; Reijns, M. A. M.; Gilbert, N.; Crow, Y. J.
Challenges and opportunities for early intervention and neurodevelopmental follow-up in preterm infants during the COVID-19 pandemic 1-gen-2021 Caporali, C.; Pisoni, C.; Naboni, C.; Provenzi, L.; Orcesi, S.
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations 1-gen-2014 Vanderver, A; Tonduti, D; Kahn, I; Schmidt, J; Medne, L; Vento, J; Chapman, Ka; Lanpher, B; Pearl, P; Gropman, A; Lourenco, C; Bamforth, Js; Sharpe, C; Pineda, M; Schallner, J; Bodamer, O; Orcesi, S; Oberstein, Sa; Sistermans, Ea; Yntema, Hg; Bonnemann, C; Waldman, At; van der Knaap, Ms.
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.
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency 1-gen-2010 Brun, L; Ngu, Lh; Keng, Wt; Ch'Ng, Gs; Choy, Ys; Hwu, Wl; Lee, Wt; Willemsen, Ma; Verbeek, Mm; Wassenberg, T; Régal, L; Orcesi, S; Tonduti, D; Accorsi, P; Testard, H; Abdenur, Je; Tay, S; Allen, Gf; Heales, S; Kern, I; Kato, M; Burlina, A; Manegold, C; Hoffmann, Gf; Blau, N.
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.
COL4A1 mutations associated with a characteristic pattern of intracranial calcification 1-gen-2011 Livingston, J; Doherty, D; Orcesi, S; Tonduti, D; Piechiecchio, A; La Piana, R; Tournier-Lasserve, E; Majumdar, A; Tomkins, S; Rice, G; Kneen, R; van der Knaap, M; Crow, Y.