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 new missense mutation in the cys 2 regulatory domain of PRKCG gene causing spinocerebellar ataxia type 14 in an italian family
2004 Frontali, M; Spadaro, M; Mantuano, E; Penci, R; Guida, S; Veneziano, L
A new Na/K ATPase mutation causes familil hemiplegic migraine type 2 with cerebellar signs
2004 Veneziano L.; Ursu S.; LehmanHorn F.; Spadaro .; Giunti P.;Mantuano E.; Frontali M.
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
A small CAG expansion of the CACNA1A4 gene as a cause of episodic ataxia type 2.
1997 Mantuano E; Veneziano L; Terrenato L; Trettel F; Sabbadini G; Frontali M; Jodice C
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.
ADCY5 screening in pediatric-onset hyperkinetic movement disorders: report of three new Italian families
2016 Mantuano, E; Carecchio, M; Mencacci, Ne; Zorzi, G; Zibordi, F; Iodice, A; Fusco, N; Veneziano, L; Barzaghi, C; Panteghini, C; R'Bibo, L; Wood, N; Garavaglia, B; Nardocci, N
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
analisi di mutazione e caratterizzazione di regioni regolative del gene CACNA1A codificante per la subunità alpha1 (Cav2.1) del canale del calcio voltaggio dipendente di tipo P/Q
2004 Jodice, C; Albertosi, S; Penci, R; Veneziano, L; Mantuano, E; Guida, S; Lagnese, S; Frontali, M
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
Autosomal dominant cerebral small vessel disease associated with HTRA1 gene mutation in an Italian family
2016 Veneziano L ; Mantuano E ; Romano S ; Spadaro M ; Amadoro G ; Frontali M
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
| 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 new missense mutation in the cys 2 regulatory domain of PRKCG gene causing spinocerebellar ataxia type 14 in an italian family | 1-gen-2004 | Frontali, M; Spadaro, M; Mantuano, E; Penci, R; Guida, S; Veneziano, L | |
| A new Na/K ATPase mutation causes familil hemiplegic migraine type 2 with cerebellar signs | 1-gen-2004 | Veneziano L.; Ursu S.; LehmanHorn F.; Spadaro .; Giunti P.;Mantuano E.; Frontali M. | |
| 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 | |
| A small CAG expansion of the CACNA1A4 gene as a cause of episodic ataxia type 2. | 1-gen-1997 | Mantuano E; Veneziano L; Terrenato L; Trettel F; Sabbadini G; Frontali M; Jodice C | |
| 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. | |
| ADCY5 screening in pediatric-onset hyperkinetic movement disorders: report of three new Italian families | 1-gen-2016 | Mantuano, E; Carecchio, M; Mencacci, Ne; Zorzi, G; Zibordi, F; Iodice, A; Fusco, N; Veneziano, L; Barzaghi, C; Panteghini, C; R'Bibo, L; Wood, N; Garavaglia, B; Nardocci, N | |
| 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 | |
| analisi di mutazione e caratterizzazione di regioni regolative del gene CACNA1A codificante per la subunità alpha1 (Cav2.1) del canale del calcio voltaggio dipendente di tipo P/Q | 1-gen-2004 | Jodice, C; Albertosi, S; Penci, R; Veneziano, L; Mantuano, E; Guida, S; Lagnese, S; Frontali, M | |
| 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 | |
| Autosomal dominant cerebral small vessel disease associated with HTRA1 gene mutation in an Italian family | 1-gen-2016 | Veneziano L ; Mantuano E ; Romano S ; Spadaro M ; Amadoro G ; Frontali M | |
| 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 |