VENEZIANO, LIANA
VENEZIANO, LIANA
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 G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs.
2004 Spadaro, M; Ursu, S; Lehmannhorn, F; Veneziano, L; Antonini, G; Giunti, P; Frontali, M; Jurkatrott, K
A multistep process for the dispersal of a Y chromosomal lineage in the Mediterranean area
2001 Malaspina P; Tsopanomichalou M; Duman T; Stefan M; Silvestri A; Rinaldi B;Garcia O; Giparaki M; Plata E; Kozlov AI; Barbujani G; Vernesi C; Papola F;Ciavarella G; Kovatchev D; Kerimova MG; Anagnou N; Gavrila L; Veneziano L; AkarN; Loutradis A; Michalodimitrakis EN; Terrenato L; Novelletto A.
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
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients
2017 Carecchio, M; Mencacci, Ne; Iodice, A; Pons, R; Panteghini, C; Zorzi, G; Zibordi, F; Bonakis, A; Dinopoulos, A; Jankovic, J; Stefanis, L; Bhatia, Kp; Monti, V; R'Bibo, L; Veneziano, L; Garavaglia, B; Fusco, C; Wood, N; Stamelou, M; 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
Analyzing the effects of a G137V mutation in the FXN gene
2015 Faggianelli N.; Puglisi R.; Veneziano L.; Romano S.; Frontali M.; Vannocci T.; Fortuni S.; Testi R.; Pastore A.
Analyzing the Effects of a G137V Mutation in the FXN Gene
2015 Faggianelli, Nathalie; Puglisi, Rita; Veneziano, Liana; Romano, Silvia; Frontali, Marina; Vannocci, Tommaso; Fortuni, Silvia; Testi, Roberto; Pastore, Annalisa
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
Autosomal Dominant Episodic Ataxia: study of an italian family
1995 Francia, A; Calandriello, L; Frontali, M; Veneziano, L; Colonnese, C; Viviani, P; Palladini, G; Manfredi, M
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 the promoter and new isoformes of CACNA1A gene
2002 D'Urbano L ; Guida S ; Mantuano E ; Veneziano L ; Frontali M ; Jodice C
| 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 G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. | 1-gen-2004 | Spadaro, M; Ursu, S; Lehmannhorn, F; Veneziano, L; Antonini, G; Giunti, P; Frontali, M; Jurkatrott, K | |
| A multistep process for the dispersal of a Y chromosomal lineage in the Mediterranean area | 1-gen-2001 | Malaspina P; Tsopanomichalou M; Duman T; Stefan M; Silvestri A; Rinaldi B;Garcia O; Giparaki M; Plata E; Kozlov AI; Barbujani G; Vernesi C; Papola F;Ciavarella G; Kovatchev D; Kerimova MG; Anagnou N; Gavrila L; Veneziano L; AkarN; Loutradis A; Michalodimitrakis EN; Terrenato L; Novelletto A. | |
| 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 | |
| ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients | 1-gen-2017 | Carecchio, M; Mencacci, Ne; Iodice, A; Pons, R; Panteghini, C; Zorzi, G; Zibordi, F; Bonakis, A; Dinopoulos, A; Jankovic, J; Stefanis, L; Bhatia, Kp; Monti, V; R'Bibo, L; Veneziano, L; Garavaglia, B; Fusco, C; Wood, N; Stamelou, M; 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 | |
| Analyzing the effects of a G137V mutation in the FXN gene | 1-gen-2015 | Faggianelli N.; Puglisi R.; Veneziano L.; Romano S.; Frontali M.; Vannocci T.; Fortuni S.; Testi R.; Pastore A. | |
| Analyzing the Effects of a G137V Mutation in the FXN Gene | 1-gen-2015 | Faggianelli, Nathalie; Puglisi, Rita; Veneziano, Liana; Romano, Silvia; Frontali, Marina; Vannocci, Tommaso; Fortuni, Silvia; Testi, Roberto; Pastore, Annalisa | |
| 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 | |
| Autosomal Dominant Episodic Ataxia: study of an italian family | 1-gen-1995 | Francia, A; Calandriello, L; Frontali, M; Veneziano, L; Colonnese, C; Viviani, P; Palladini, G; Manfredi, M | |
| 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 the promoter and new isoformes of CACNA1A gene | 1-gen-2002 | D'Urbano L ; Guida S ; Mantuano E ; Veneziano L ; Frontali M ; Jodice C |