ORCESI, SIMONA

ORCESI, SIMONA  

DIPARTIMENTO DI SCIENZE DEL SISTEMA NERVOSO E DEL COMPORTAMENTO  

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Titolo Data di pubblicazione Autore(i) File
A global perspective on parental stress in the neonatal intensive care unit: a meta-analytic study 1-gen-2020 Caporali, C.; Pisoni, C.; Gasparini, L.; Ballante, E.; Zecca, M.; Orcesi, S.; Provenzi, L.
A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy 1-gen-2000 Bonifati, Md; Ruzza, G; Bonometto, P; Berardinelli, A; Gorni, K; Orcesi, S; Lanzi, G; Angelini, C
A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report 1-gen-2021 Moresco, G.; Costanza, J.; Santaniello, C.; Rondinone, O.; Grilli, F.; Prada, E.; Orcesi, S.; Coro, I.; Pichiecchio, A.; Marchisio, P.; Miozzo, M.; Fontana, L.; Milani, D.
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
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.
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
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.