Gurrieri, Fiorella

Gurrieri, Fiorella  

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1-gen-2021 Identification of new candidate genes for spina bifida through exome sequencing Azzara, A.; Rendeli, C.; Crivello, A. M.; Brugnoletti, F.; Rumore, R.; Ausili, E.; Sangiorgi, E.; Gurrieri, F.
1-gen-2021 POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients Di Donato, I.; Gallo, A.; Ricca, I.; Fini, N.; Silvestri, G.; Gurrieri, F.; Cirillo, M.; Cerase, A.; Natale, G.; Matrone, F.; Riso, V.; Melone, M. A. B.; Tessa, A.; De Michele, G.; Federico, A.; Filla, A.; Dotti, M. T.; Santorelli, F. M.
1-gen-2021 Results of a gene panel approach in a cohort of patients with incomplete distal renal tubular acidosis and nephrolithiasis D'Ambrosio, V.; Azzara, A.; Sangiorgi, E.; Gurrieri, F.; Hess, B.; Gambaro, G.; Ferraro, P. M.
1-gen-2020 Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers Marangi, G.; Garcovich, S.; Di Sante, G.; Orteschi, D.; Frangella, S.; Scaldaferri, F.; Genuardi, M.; Peris, K.; Gurrieri, F.; Zollino, M.
1-gen-2020 Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation Tabolacci, E.; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Nobile, V.; Pennacchio, G.; Gurrieri, F.; Neri, G.; Genuardi, M.; Chiurazzi, P.
1-gen-2019 Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome Sangiorgi, E; Azzara, A; Molinario, C; Pietrobono, R; Rigante, D; Verrecchia, E; Sicignano, Ll; Genuardi, M; Gurrieri, F; Manna, R
1-gen-2019 Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. Sangiorgi, E; Azzarà, A; Molinario, C; Pietrobono, R; Rigante, D; Verrecchia, E; Sicignano, Ll; Genuardi, M; Gurrieri, F; Manna, R.
1-gen-2018 ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases. Stagnaro, M; Pisciotta, L; Gherzi, M; Di Rocco, M; Gurrieri, F; Parrini, E; Prato, G; Veneselli, E; De Grandis, E.
1-gen-2018 Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schonlein purpura Milillo, A; Molinario, C; Costanzi, S; Vischini, G; La Carpia, F; La Greca, F; Rigante, D; Gambaro, G; Gurrieri, F; Sangiorgi, E
1-gen-2018 Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schönlein purpura Milillo, A; Molinario, C; Costanzi, S; Vischini, G; La Carpia, F; La Greca, F; Rigante, D; Gambaro, G; Gurrieri, F; Sangiorgi, E.
1-gen-2018 Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study D'Amore, Angelica; Tessa, Alessandra; Casali, Carlo; Dotti, Maria Teresa; Filla, Alessandro; Silvestri, Gabriella; Antenora, Antonella; Astrea, Guja; Barghigiani, Melissa; Battini, Roberta; Battisti, Carla; Bruno, Irene; Cereda, Cristina; Dato, Clemente; Di Iorio, Giuseppe; Donadio, Vincenzo; Felicori, Monica; Fini, Nicola; Fiorillo, Chiara; Gallone, Salvatore; Gemignani, Federica; Gigli, Gian Luigi; Graziano, Claudio; Guerrini, Renzo; Gurrieri, Fiorella; Kariminejad, Ariana; Lieto, Maria; Marques LourenḈo, Charles; Malandrini, Alessandro; Mandich, Paola; Marcotulli, Christian; Mari, Francesco; Massacesi, Luca; Melone, Maria A B; Mignarri, Andrea; Milone, Roberta; Musumeci, Olimpia; Pegoraro, Elena; Perna, Alessia; Petrucci, Antonio; Pini, Antonella; Pochiero, Francesca; Pons, Maria Roser; Ricca, Ivana; Rossi, Salvatore; Seri, Marco; Stanzial, Franco; Tinelli, Francesca; Toscano, Antonio; Valente, Mariarosaria; Federico, Antonio; Rubegni, Anna; Santorelli, Filippo Maria
1-gen-2017 An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus Carbonella, Angela; Mancano, Giorgia; Gremese, Elisa; Alkuraya, F. S.; Patel, N.; Gurrieri, Fiorella; Ferraccioli, Gianfranco
1-gen-2017 ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. Giacanelli, M; Petrucci, A; Lispi, L; Luna, R; Neri, G; Gurrieri, F; Angelini, C
1-gen-2016 Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. La Carpia, Francesca; Rendeli, Claudia; Molinario, Clelia; Milillo, Annamaria; Farroni, C; Cannelli, Natalia; Ausili, Emanuele; Paolucci, V; Neri, Giovanni; Romagnoli, Costantino; Sangiorgi, Eugenio; Gurrieri, Fiorella
1-gen-2016 Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. La Carpia, Francesca; Rendeli, Claudia; Molinario, Clelia; Milillo, Annamaria; Farroni, C.; Cannelli, Natalia; Ausili, Emanuele; Paolucci, V.; Neri, Giovanni; Romagnoli, Costantino; Sangiorgi, Eugenio; Gurrieri, Fiorella
1-gen-2016 Recognizable facial features in patients with alternating hemiplegia of childhood. Gurrieri, Fiorella; Tiziano, Francesco Danilo; Zampino, Giuseppe; Neri, Giovanni
1-gen-2015 A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy Milillo, A; La Carpia, F; Costanzi, S; D'Urbano, V; Martini, M; Lanuti, P; Vischini, G; Larocca, Lm; Marchisio, M; Miscia, S; Amoroso, A; Gurrieri, F; Sangiorgi, E
1-gen-2015 A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy. Sangiorgi, Eugenio; Gurrieri, Fiorella; Milillo, Annamaria; La Carpia, Francesca; Costanzi, Stefano; Martini, Maurizio; Larocca, Luigi Maria; Vischini, Gisella
1-gen-2015 Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients Panagiotakaki, E; De Grandis, E; Stagnaro, M; Heinzen, El; Fons, C; Sisodiya, S; De Vries, B; Goubau, C; Weckhuysen, S; Kemlink, D; Scheffer, I; Lesca, G; Rabilloud, M; Klich, A; Ramirez Camacho, A; Ulate Campos, A; Campistol, J; Giannotta, M; Moutard, M; Doummar, D; Hubsch Bonneaud, C; Jaffer, F; Cross, H; Gurrieri, Fiorella; Tiziano, Francesco Danilo; Nevsimalova, S; Nicole, S; Neville, B; Van Den Maagdenberg, Amjm; Mikati, M; Goldstein, Db; Vavassori, R; Arzimanoglou, A.
1-gen-2015 Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. Gurrieri, Fiorella; Panagiotakaki, E; De Grandis, E; Stagnaro, M; Heinzen, El; Fons, C; Sisodiya, S; Tiziano, Francesco Danilo; Nicole, ; Nevsimalova, S; Neville, B; Van Den Maagdenberg, Am; Mikati, M; Goldstein, D.