ORCESI, SIMONA
ORCESI, SIMONA
DIPARTIMENTO DI SCIENZE DEL SISTEMA NERVOSO E DEL COMPORTAMENTO
A global perspective on parental stress in the neonatal intensive care unit: a meta-analytic study
2020-01-01 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
2000-01-01 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
2021-01-01 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
2015-01-01 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
2009-01-01 Uggetti, C; LA PIANA, R; Orcesi, S; Egitto, Mg; Crow, Yj; Fazzi, E
Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies
2015-01-01 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
2020-01-01 Gana, S.; Plumari, M.; Rossi, E.; Saracino, A.; Iorio, M.; Zanaboni, M. P.; Orcesi, S.; Valente, E. M.
Altered DNA methylation and gene expression predict disease severity in patients with Aicardi-Goutières syndrome
2023-01-01 Garau, Jessica; Charras, Amandine; Varesio, Costanza; Orcesi, Simona; Dragoni, Francesca; Galli, Jessica; Fazzi, Elisa; Gagliardi, Stella; Pansarasa, Orietta; Cereda, Cristina; Hedrich, Christian M
Altered PLP1 splicing causes hypomyelination of early myelinating structures
2015-01-01 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
2017-01-01 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
2021-01-01 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
2021-01-01 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
2020-01-01 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
2003-01-01 Zanardi, M. C.; Tagliabue, Anna; Orcesi, S.; Berardinelli, A.; Uggetti, C.; Pichiecchio, Anna
Calcifying leukoencephalopathies: new overlapping phenotypes
2012-01-01 Orcesi, S; Tonduti, D; La Piana, R.
Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi–Goutières Syndrome
2021-01-01 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
2021-01-01 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
1997-01-01 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
2020-01-01 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
2021-01-01 Caporali, C.; Pisoni, C.; Naboni, C.; Provenzi, L.; Orcesi, S.
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 DNA methylation and gene expression predict disease severity in patients with Aicardi-Goutières syndrome | 1-gen-2023 | Garau, Jessica; Charras, Amandine; Varesio, Costanza; Orcesi, Simona; Dragoni, Francesca; Galli, Jessica; Fazzi, Elisa; Gagliardi, Stella; Pansarasa, Orietta; Cereda, Cristina; Hedrich, Christian 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. |