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BRUNETTI PIERRI, NICOLA

BRUNETTI PIERRI, NICOLA  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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Titolo Tipologia Data di pubblicazione Autore(i) File
A new patient with Lowry-Wood syndrome with mild phenotype 1.1 Articolo in rivista 2003 BRUNETTI PIERRI, Nicola; De Brasi, D; Ikegawa, S; Camera, G; Andria, G; Sebastio, G.
Short-Term Correction of Arginase Deficiency in a Neonatal Murine Model with a Helper-Dependent Adenoviral Vector. 1.1 Articolo in rivista 2009 Gau, C. L.; Rosenblatt, Ra; Cerullo, V; Lay, Fd; Dow, Ac; Livesay, J; BRUNETTI PIERRI, Nicola; Lee, B; Cederbaum, S; Grody, W; Lipshutz, G. S.
A novel mutation in the N-terminal region of the CYP17A1 gene in a patient with 17 alpha-hydroxylase/17,20-lyase deficiency. 1.1 Articolo in rivista 2009 Nuzzo, V; Tauchmanova, L; Brunetti Pierri, R; Zuccoli, A; Lupoli, Giovanni; Colao, A; BRUNETTI PIERRI, Nicola
New syndrome with generalized lipodystrophy and a distinctive facial appearance: Confirmation of Keppen-Lubinski syndrome? 1.1 Articolo in rivista 2003 De Brasi, D; BRUNETTI PIERRI, Nicola; Di Micco, P; Andria, G; Sebastio, G.
Gray matter heterotopias and brachytelephalangic chondrodysplasia punctata: a complication of hyperemesis gravidarum induced vitamin K deficiency? 1.1 Articolo in rivista 2007 BRUNETTI PIERRI, Nicola; Hunter, J; Boerkoel, C.
Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency? 1.1 Articolo in rivista 2009 BRUNETTI PIERRI, Nicola; Erez, A; Shchelochkov, O; Craigen, W; Lee, B.
Molecular characterization of patients with chondrodysplasia punctata 1.1 Articolo in rivista 2000 BRUNETTI PIERRI, Nicola; Meroni, G; Tuzzi, Mr; Andreucci, Mv; Ballabio, Andrea; Andria, Generoso; Parenti, G.
Gene therapy for inborn errors of liver metabolism: progress towards clinical applications. 1.1 Articolo in rivista 2008 BRUNETTI PIERRI, Nicola
Phenotypic Correction of Ornithine Transcarbamylase Deficiency Using Low Dose Helper Dependent Adenoviral Vectors. 1.1 Articolo in rivista 2008 BRUNETTI PIERRI, Nicola; Clarke, C; Mane, V; Palmer, Dj; Lanpher, B; Sun, Q; O’Brien, W. Lee B.
Acute toxicity after high-dose systemic injection of helper-dependent adenoviral vectors in nonhuman primates. 1.1 Articolo in rivista 2004 BRUNETTI PIERRI, Nicola; Palmer, Dj; Beaudet, Al; Carey, Kd; Finegold, M; Ng, P.
A severe case of Dentatorubropallidoluysian atrophy (DRPLA) with microcephaly, very early onset of seizures, and cerebral white matter involvement. 1.1 Articolo in rivista 2006 BRUNETTI PIERRI, Nicola; Wilfong, A; Hunter, Jv; Craigen, W. J.
Pseudo-Hydrodynamic Delivery of Helper-Dependent Adenoviral Vectors into Nonhuman Primates. 1.1 Articolo in rivista 2007 BRUNETTI PIERRI, Nicola; Stapleton, Ge; Palmer, Dj; Zuo, Y; Mane, Vp; Finegold, Mj; Beaudet, Al; Leland, Mm; Mullins, Ce; Ng, P.
A new case of bilateral upper limb amelia, facial clefts, and renal hypoplasia. 1.1 Articolo in rivista 2000 BRUNETTI PIERRI, Nicola; Lecora, M; Passariello, A; Scala, I; Andria, G.
GM1 gangliosidosis: a review of clinical, molecular, and therapeutic aspects. 1.1 Articolo in rivista 2008 BRUNETTI PIERRI, Nicola; Scaglia, F.
Nuove displasie scheletriche su base dismetabolica: condrodisplasie puntate e osteopetrosi. 1.1 Articolo in rivista 2001 BRUNETTI PIERRI, Nicola; G., Parenti; Strisciuglio, Pietro
Increased Hepatic Transduction and Reduced Systemic Dissemination and Proinflammatory Cytokines Following Hydrodynamic Injection of Helper-Dependent Adenoviral Vectors. 1.1 Articolo in rivista 2005 BRUNETTI PIERRI, Nicola; Palmer, Dj; Mane, V; Finegold, M; Beaudet, Al; Ng, P.
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability 1.1 Articolo in rivista 2003 BRUNETTI PIERRI, Nicola; Andreucci, M. V.; Tuzzi, R.; Vega, G. R.; Gray, G.; Mckeown, C; Ballabio, Andrea; Andria, Generoso; Meroni, G.; Parenti, G.
Discovery of drug mode of action and drug repositioning from transcriptional responses 1.1 Articolo in rivista 2010 Iorio, F; Bosotti, R; Scacheri, E; Belcastro, V; Mithbaokar, P; Ferriero, R; Murino, L; Tagliaferri, R; BRUNETTI PIERRI, Nicola; Isacchi, A; DI BERNARDO, Diego
Inborn errors of metabolism: the flux from Mendelian to complex diseases. 1.1 Articolo in rivista 2006 Lanpher, B; BRUNETTI PIERRI, Nicola; Lee, B.
Progress towards liver and lung-directed gene therapy with helper-dependent adenoviral vectors. 1.1 Articolo in rivista 2009 BRUNETTI PIERRI, Nicola; Philip, Ng