PETRUZZELLA, Vittoria

PETRUZZELLA, Vittoria  

DIPARTIMENTO DI BIOMEDICINA TRASLAZIONALE E NEUROSCIENZE  

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A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome 1-gen-2001 Petruzzella, Vittoria; Vergari, R; Puzziferri, I; Boffoli, D; Lamantea, E; Zeviani, M; Papa, S.
A novel insertion mutation (A(169i)) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient 1-gen-1998 Santorelli, Fm; Bertini, E; Petruzzella, Vittoria; Di Capua, M; Calvieri, S; Gasparini, P; Zeviani, M.
ACETYL-L-CARNITINE INCREASES CYTOCHROME-OXIDASE SUBUNIT-I MESSENGER-RNA CONTENT IN HYPOTHYROID RAT-LIVER 1-gen-1990 Gadaleta, Mn; Petruzzella, Vittoria; Fracasso, F; Fernandezsilva, P; Cantatore, Palmiro
ACTN3/ACE GENOTYPES AND MITOCHONDRIAL GENOME IN PROFESSIONAL SOCCER PLAYERS’ PERFORMANCE 1-gen-2017 Valeria, Galeandro; Notarnicola, Angela; Bianco, Angelica; Tafuri, Silvio; Russo, Luciana; Pesce, Vito; Moretti, Biagio; Petruzzella, Vittoria
Age-dependent structural variations in rat brain mitochondrial DNA 1-gen-1992 Petruzzella, Vittoria; Fracasso, F; Gadaleta, Mn; Cantatore, Palmiro
Alteration of mitochondrial DNA and RNA level in human fibroblasts with impaired vitamin B12 coenzyme synthesis 1-gen-1998 Cantatore, Palmiro; Petruzzella, Vittoria; Nicoletti, C; Papadia, F; Fracasso, F; Rustin, P; Gadaleta, Mn
ALTERAZIONI STRUTTURALI DEL DNA MITOCONDRIALE IN TESSUTI DI RATTO VECCHIO 1-gen-1993 Gadaleta, M. N.; Rainaldi, Guglielmo; Lezza, Angela Maria Serena; Petruzzella, Vittoria; G. RAINALDI E. P., Cantatore
Alternative splicing and nonsense-mediated mRNA decay in genetic disorder of complex I 1-gen-2004 Petruzzella, Vittoria; Panelli, D; Torraco, A; Iuso, A; Scacco, Salvatore; Papa, S.
Alternative splicing and nonsense-mediated mRNA decay in genetic disorder of complex I 1-gen-2004 Petruzzella, Vittoria; Panelli, D; Torraco, A; Iuso, A; Scacco, Salvatore; Papa, S.
Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit 1-gen-2003 Petruzzella, Vittoria; Di Giacinto, G; Scacco, Salvatore; Piemonte, F; Torraco, A; Carrozzo, R; Vergari, R; Dionisi Vici, C; Longo, D; Tessa, A; Papa, S; Bertini, E.
Author response: Do high mtDNA copy numbers truly prevent LHON manifestations? 1-gen-2017 Bianco, Angelica; Petruzzella, Vittoria
Author Response: Increased mtDNA Copy Number Protects Against LHON 1-gen-2018 Bianco, Angelica; Palese, Luigi L.; Guerriero, Silvana; Petruzzella, Vittoria
Autophagy and proliferation are dysregulated in Charcot-Marie-Tooth disease type 2A cells harboring MFN2 (mitofusin 2) mutation 1-gen-2022 Zanfardino, Paola; Petruzzella, Vittoria
Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction 1-gen-2021 Berti, B.; Longo, G.; Mari, F.; Doccini, S.; Piccolo, I.; Donati, M. A.; Moro, F.; Guerrini, R.; Santorelli, F. M.; Petruzzella, V.
Bilateral progressive visual loss in an epileptic, mentally retarded boy 1-gen-2011 Guerriero, Silvana; Vetrugno, Michele; Ciracì, L; Artuso, L; Dell'Aglio, R; Petruzzella, Vittoria
Bilateral striatal necrosis, dystonia and multiple mitochondrial DNA deletions: case study and effect of deep brain stimulation 1-gen-2008 Aniello, Ms; Martino, D; Petruzzella, Vittoria; Eleopra, R; Mancuso, M; Dell'Aglio, R; Cavallo, M; Siciliano, G; Defazio, Giovanni
cAMP-dependent phosphorylation and dephosphorylation of mitochondrial proteins. Molecular aspects and physiopathological implications 1-gen-2003 Sardanelli, Anna Maria; Petruzzella, Vittoria; Signorile, Anna; Scacco, Salvatore; S., Papa
Cerebellar ataxia as atypical manifestation of the 3243A > G MELAS mutation 1-gen-2004 Petruzzella, Vittoria; Zoccolella, S; Amati, A; Torraco, A; Lamberti, P; Carnicella, F; Serlenga, L; Papa, S.
Clinical and molecular characterization of a novel INCL mutation in an Italian patient 1-gen-1998 Santorelli, Fm; Carrozzo, R; Petruzzella, Vittoria; Zeviani, M; Bertini, Es
CLINICAL AND MOLECULAR IMPLICATION IN A FAMILY WITH 3460 LEBER HEREDITARY OPTIC NEUROPATHY 1-gen-2008 Dellaglio, R; Negro, R; Artuso, L; Papa, S; Carelli, V; Guerriero, Silvana; Petruzzella, Vittoria