MANTUANO, ELIDE
MANTUANO, ELIDE
FARMACOLOGIA TRASLAZIONALE - IFT
A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia
2017 Hasan, S; Bove, C; Silvestri, G; Mantuano, E; Modoni, A; Veneziano, L; Hunter, T; Hunter, G; Pessia, M; D'Adamo, Mc
A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome
2000 Trettel, F; Mantuano, E; Calabresi, V; Veneziano, L; Olsen, AS; Georgescu, A; Gordon, L; Sabbadini, G; Frontali, M; Jodice, C
A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature
2014 Veneziano L.; Parkinson M.H.; Mantuano E.; Frontali M.; Bhatia K.P.; Giunti P.
A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation
2014 Veneziano, Liana; Mantuano, Elide; Catalli, Claudio; Gellera, Cinzia; Durr, Alexandra; Romano, Silvia; Spadaro, Maria; Frontali, Marina; Novelletto, Andrea
Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13.
1997 Calandriello L; Veneziano L; Francia A; Sabbadini G; Colonnese C; Mantuano E; Jodice C; Trettel F; Viviani P; Manfredi M; Frontali M.
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations
2022 Thust, Steffi; Veneziano, Liana; Parkinson Michael, H; Bhatia Kailash, P; Mantuano, Elide; Gonzalezrobles, Cristina; Davagnanam, Indran; Giunti, Paola
Analysis of X-chromosome inactivation in bone marrow precursors from carriers of Wiskott-Aldrich syndrome and X-linked severe combined immunodeficiency: evidence that the Wiskott-Aldrich gene is expressed prior to granulocyte-macrophage colony-forming-unit.
1993 Mantuano, E; Candotti, F; Giliani, S; Parolini, O; Lusardi, M; Zucchi, M; Lanfranchi, A; Porta, F; Airò, P Albertini A; Ugazio, Ag; Notarangelo, Ld
Apolipoprotein B and E genetic polymorphisms in the Cayapa Indians of Ecuador.
1997 Scacchi, R; Corbo, Rm; Rickards, O; Mantuano, E; Guevara, A; De Stefano, Gf
Apolipoprotein B and E, and AngiotensinI-converting enzyme (ACE) genetic polymorphisms in Italian women with coronary artery disease (CAD) and their relationships with plasma lipid and apolipoprotein levels.
1997 Corbo RM ,; Vilardo T ; Mantuano E ; Ruggeri M ; Gemma AT ; Scacchi R .
APPLICATION OF MOLECULAR ANALYSIS TO GENETIC-COUNSELING IN THE WISKOTT-ALDRICH SYNDROME (WAS)
1993 Notarangelo, Ld; Candotti, F; Parolini, O; Mantuano, E; Giliani, S; Lanfranchi, A; Albertini, A
Approccio genetico e molecolare alla diagnosi delle immunodeficienze X-recessive.
1992 Candotti, F; Notarangelo, Ld; Giliani, S; Mantuano, E; Albertini, A; Ugazio, Ag
Can leukocyte telomere shortening be a possible biomarker to track Huntington's disease progression
2019 Mantuano, Elide; Peconi, Martina; Scarabino, Daniela
CHARACTERIZATION OF 9 NOVEL MUTATIONS IN THE CD40 LIGAND GENE IN PATIENTS WITH X-LINKED HYPER IGM SYNDROME OF VARIOUS ANCESTRY
1995 MACCHI, P; VILLA, A; STRINA, D; SACCO, MG; MORALI, F; BRUGNONI, D; GILIANI, S; MANTUANO, E; FASTH, A; ANDERSSON, B; ZEGERS, BJM; CAVAGNI, G; REZNICK, I; LEVY, J; ZANBAR, I; PORAT, Y; AIRO, P; PLEBANI, A; VEZZONI, P; NOTARANGELO, LD
Characterization of human frataxin missense variants in cancer tissues
2019 Petrosino, M; Pasquo, A; Novak, L; Toto, A; Gianni, S; Mantuano, E; Veneziano, L; Minicozzi, V; Pastore, A; Puglisi, R; Capriotti, E; Chiaraluce, R; Consalvi, V
Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.
1995 Macchi, Paolo; Villa, Anna; Strina, Dario; Grazia Sacco, Maria; Morali, Federica; Brugnoni, Duilio; Giliani, Silvia; Mantuano, Elide; Fasth, Anders; Andersson, Bengt; M Zegers, Ben J; Cavagni, Giovanni; Reznick, Igor; Levy, Jacov; Zanbar, Israel; Porat, Yael; Airo, Paolo; Plebani, Alessandro; Vezzoni, Paolo; D Notarangelo, Luigi
Circulating U13 Small Nucleolar RNA as a Potential Biomarker in Huntington's Disease: A Pilot Study
2022 Romano, Silvia; Romano, Carmela; Peconi, Martina; Fiore, Alessia; Bellucci, Gianmarco; Morena, Emanuele; Troili, Fernanda; Cipollini, Virginia; Annibali, Viviana; Giglio, Simona; Mechelli, Rosella; Ferraldeschi, Michela; Veneziano, Liana; Mantuano, Elide; Sani, Gabriele; Vecchione, Andrea; Umeton, Renato; Giubilei, Franco; Salvetti, Marco; Corbo, Rosa Maria; Scarabino, Daniela; Ristori, Giovanni
Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2
2004 Mantuano, E; Veneziano, L; Spadaro, M; Giunti, P; Guida, S; Leggio, Mg; Verriello, L; Wood, N; Jodice, C; Frontali, M
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by episodic ataxia type 2 patients.
2001 Guida S.; Trettel F.; Pagnutti S.; Mantuano E.; Tottene A.; Veneziano L.; Fellin T.; Spadaro M.; Stauderman K.A.; Williams M.E.; Volsen S.; Ophoff R.A.; Frants R.R.; Jodice C.; Frontali M.; Pietrobon D.
Construction and preliminary characterization of human recombinant proNGF-A variant
2020 Soligo, Marzia; Chiaretti, Antonio; Leotta, Eleonora; Lardone, Elena; Boschelle, Chiara; Mantuano, Elide; Veneziano, Liana; Manni, Luigi
Different responses of PC12 cells to different pro-nerve growth factor protein variants
2019 Soligo M ; Albini M ; Bertoli FL ; Marzano V ; Protto V ; BracciLaudiero L ; Minnone G ; De Benedetti F ; Chiaretti A ; Mantuano E ; Manni L
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia | 1-gen-2017 | Hasan, S; Bove, C; Silvestri, G; Mantuano, E; Modoni, A; Veneziano, L; Hunter, T; Hunter, G; Pessia, M; D'Adamo, Mc | |
| A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome | 1-gen-2000 | Trettel, F; Mantuano, E; Calabresi, V; Veneziano, L; Olsen, AS; Georgescu, A; Gordon, L; Sabbadini, G; Frontali, M; Jodice, C | |
| A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature | 1-gen-2014 | Veneziano L.; Parkinson M.H.; Mantuano E.; Frontali M.; Bhatia K.P.; Giunti P. | |
| A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation | 1-gen-2014 | Veneziano, Liana; Mantuano, Elide; Catalli, Claudio; Gellera, Cinzia; Durr, Alexandra; Romano, Silvia; Spadaro, Maria; Frontali, Marina; Novelletto, Andrea | |
| Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13. | 1-gen-1997 | Calandriello L; Veneziano L; Francia A; Sabbadini G; Colonnese C; Mantuano E; Jodice C; Trettel F; Viviani P; Manfredi M; Frontali M. | |
| Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations | 1-gen-2022 | Thust, Steffi; Veneziano, Liana; Parkinson Michael, H; Bhatia Kailash, P; Mantuano, Elide; Gonzalezrobles, Cristina; Davagnanam, Indran; Giunti, Paola | |
| Analysis of X-chromosome inactivation in bone marrow precursors from carriers of Wiskott-Aldrich syndrome and X-linked severe combined immunodeficiency: evidence that the Wiskott-Aldrich gene is expressed prior to granulocyte-macrophage colony-forming-unit. | 1-gen-1993 | Mantuano, E; Candotti, F; Giliani, S; Parolini, O; Lusardi, M; Zucchi, M; Lanfranchi, A; Porta, F; Airò, P Albertini A; Ugazio, Ag; Notarangelo, Ld | |
| Apolipoprotein B and E genetic polymorphisms in the Cayapa Indians of Ecuador. | 1-gen-1997 | Scacchi, R; Corbo, Rm; Rickards, O; Mantuano, E; Guevara, A; De Stefano, Gf | |
| Apolipoprotein B and E, and AngiotensinI-converting enzyme (ACE) genetic polymorphisms in Italian women with coronary artery disease (CAD) and their relationships with plasma lipid and apolipoprotein levels. | 1-gen-1997 | Corbo RM ,; Vilardo T ; Mantuano E ; Ruggeri M ; Gemma AT ; Scacchi R . | |
| APPLICATION OF MOLECULAR ANALYSIS TO GENETIC-COUNSELING IN THE WISKOTT-ALDRICH SYNDROME (WAS) | 1-gen-1993 | Notarangelo, Ld; Candotti, F; Parolini, O; Mantuano, E; Giliani, S; Lanfranchi, A; Albertini, A | |
| Approccio genetico e molecolare alla diagnosi delle immunodeficienze X-recessive. | 1-gen-1992 | Candotti, F; Notarangelo, Ld; Giliani, S; Mantuano, E; Albertini, A; Ugazio, Ag | |
| Can leukocyte telomere shortening be a possible biomarker to track Huntington's disease progression | 1-gen-2019 | Mantuano, Elide; Peconi, Martina; Scarabino, Daniela | |
| CHARACTERIZATION OF 9 NOVEL MUTATIONS IN THE CD40 LIGAND GENE IN PATIENTS WITH X-LINKED HYPER IGM SYNDROME OF VARIOUS ANCESTRY | 1-gen-1995 | MACCHI, P; VILLA, A; STRINA, D; SACCO, MG; MORALI, F; BRUGNONI, D; GILIANI, S; MANTUANO, E; FASTH, A; ANDERSSON, B; ZEGERS, BJM; CAVAGNI, G; REZNICK, I; LEVY, J; ZANBAR, I; PORAT, Y; AIRO, P; PLEBANI, A; VEZZONI, P; NOTARANGELO, LD | |
| Characterization of human frataxin missense variants in cancer tissues | 1-gen-2019 | Petrosino, M; Pasquo, A; Novak, L; Toto, A; Gianni, S; Mantuano, E; Veneziano, L; Minicozzi, V; Pastore, A; Puglisi, R; Capriotti, E; Chiaraluce, R; Consalvi, V | |
| Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry. | 1-gen-1995 | Macchi, Paolo; Villa, Anna; Strina, Dario; Grazia Sacco, Maria; Morali, Federica; Brugnoni, Duilio; Giliani, Silvia; Mantuano, Elide; Fasth, Anders; Andersson, Bengt; M Zegers, Ben J; Cavagni, Giovanni; Reznick, Igor; Levy, Jacov; Zanbar, Israel; Porat, Yael; Airo, Paolo; Plebani, Alessandro; Vezzoni, Paolo; D Notarangelo, Luigi | |
| Circulating U13 Small Nucleolar RNA as a Potential Biomarker in Huntington's Disease: A Pilot Study | 1-gen-2022 | Romano, Silvia; Romano, Carmela; Peconi, Martina; Fiore, Alessia; Bellucci, Gianmarco; Morena, Emanuele; Troili, Fernanda; Cipollini, Virginia; Annibali, Viviana; Giglio, Simona; Mechelli, Rosella; Ferraldeschi, Michela; Veneziano, Liana; Mantuano, Elide; Sani, Gabriele; Vecchione, Andrea; Umeton, Renato; Giubilei, Franco; Salvetti, Marco; Corbo, Rosa Maria; Scarabino, Daniela; Ristori, Giovanni | |
| Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2 | 1-gen-2004 | Mantuano, E; Veneziano, L; Spadaro, M; Giunti, P; Guida, S; Leggio, Mg; Verriello, L; Wood, N; Jodice, C; Frontali, M | |
| Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by episodic ataxia type 2 patients. | 1-gen-2001 | Guida S.; Trettel F.; Pagnutti S.; Mantuano E.; Tottene A.; Veneziano L.; Fellin T.; Spadaro M.; Stauderman K.A.; Williams M.E.; Volsen S.; Ophoff R.A.; Frants R.R.; Jodice C.; Frontali M.; Pietrobon D. | |
| Construction and preliminary characterization of human recombinant proNGF-A variant | 1-gen-2020 | Soligo, Marzia; Chiaretti, Antonio; Leotta, Eleonora; Lardone, Elena; Boschelle, Chiara; Mantuano, Elide; Veneziano, Liana; Manni, Luigi | |
| Different responses of PC12 cells to different pro-nerve growth factor protein variants | 1-gen-2019 | Soligo M ; Albini M ; Bertoli FL ; Marzano V ; Protto V ; BracciLaudiero L ; Minnone G ; De Benedetti F ; Chiaretti A ; Mantuano E ; Manni L |