VENEZIANO, LIANA
VENEZIANO, LIANA
FARMACOLOGIA TRASLAZIONALE - IFT
Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow-up study.
2023 Mangano GD; Capizzi MR; Mantuano E; Veneziano L; Santangelo G; Quatrosi G; Nardello R; Raieli V.
Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions
2023 Corbett Mark, A; Depienne, Christel; Veneziano, Liana; Klein Karl, Martin; Brancati, Francesco; Guerrini, Renzo; Zara, Federico; Tsuji, Shoji; Gecz, Jozef
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
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
Leukocyte Telomere Length as Potential Biomarker of HD Progression: A Follow-Up Study
2022 Scarabino, D; Veneziano, L; Mantuano, E; Arisi, I; Fiore, A; Frontali, M; Corbo, Rm
Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases.
2022 Scarabino D; Veneziano L; Fiore A; Nethisinghe S; Mantuano E; GarciaMoreno H; Bellucci G; Solanky N; Morello M; Zanni G; Corbo RM; Giunti P.
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
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
Intronic ATTTC repeat expansions in STARD7 in fam ilial adult myoclonic epilepsy linked to chromosome 2
2019 Corbett M. A.; KroesT.; Veneziano L.; Bennett M. F.; Florian R.; Schneider A. L.; Coppola A.; Licchetta L.; Franceschetti S.; Suppa A.; Wenger A.; Mei D.; Pendziwiat M.; Kaya S.; Delledonne M.; Straussberg R.; Xumerle L.; Regan B; Crompton D.; van Rootselaar A. F.; Correll A.; Catford R.; Bisulli F.; Chakraborty S.; Baldassari S.; Tinuper P.; Barton K.; Carswell S.; Smith M.; Berardelli A.; Carroll R.; Gardner A.; Friend K. L.; Blatt I.; Iacomino M.; Di Bonaventura C.; Striano S.; Buratti J.; Keren B.; Nava C.; Forlani S.; Rudolf G.; Hirsch E.; Leguern E.; Labauge P.; Balestrini S.; Sander J. W.; Afawi Z.; Helbig I.; Ishiura H.; Tsuji S.; Sisodiya S. M.; Casari G.; Sadleir L. G.; van Coller R.; Tijssen M. A. J.; Klein K. M.; van den Maagdenberg A. M. J. M.; Zara F.; Guerrini R.; Berkovic S. F.; Pippucci T.; Canafoglia L.; Bahlo M.; Striano P.; Scheffer I. E.; Brancati F.; Depienne C.; Gecz J.
Leukocyte telomere shortening in Huntington's disease.
2019 Scarabino D.; Veneziano L.; Peconi M.; Frontali M.; Mantuano E.; Corbo R.M.
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17
2018 Nethisinghe S.; Lim W. N.; Ging H.; Zeitlberger A.; Abeti R.; Pemble S.; Sweeney M. G.; Labrum R.; Cervera C.; Houlden H.; Rosser E.; Limousin P.; Kennedy A.; Lunn M. P.; Bhatia K. P.; Wood N. W.; Hardy J.; Polke J. M.; Veneziano L.; Brusco A.; Davis M. B.; Giunti P.
Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum
2018 Iodice, A; Carecchio, M; Zorzi, G; Garavaglia, B; Spagnoli, C; Salerno, Gg; Frattini, D; Mencacci, Ne; Invernizzi, F; Veneziano, L; Mantuano, E; Angriman, M; Fusco, C
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
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
De Novo Mutations in PDE1 0A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions
2016 Mencacci, N E; Kamsteeg, Ej; Nakashima, K; R'Bibo, L; Lynch, D S; Balint, B; Willemsen, M A A P; Adams, M E; Wiethoff, S; Suzuki, K; Davies, C H; Ng, J; Meyer, E; Veneziano, L; Giunti, P; Hughes, D; Raymond, F L; Carecchio, M; Zorzi, G; Nardocci, N; Barzaghi, C; Garavaglia, B; Salpietro, V; Hardy, J; Pittman, A M; Houlden, H; Kurian, M A; Kimura, H; Vissers, L E L M; Wood, N W; Bhatia, K P
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
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.
Molecular mechanism of Spinocerebellar Ataxia type 6:Glutamine repeat disorder,channelopathy and transcriptional dysregulation.The multifaceted aspects of a single mutation
2015 Giunti, P; Mantuano, E; Frontali, M; Veneziano, L
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow-up study. | 1-gen-2023 | Mangano GD; Capizzi MR; Mantuano E; Veneziano L; Santangelo G; Quatrosi G; Nardello R; Raieli V. | |
| Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions | 1-gen-2023 | Corbett Mark, A; Depienne, Christel; Veneziano, Liana; Klein Karl, Martin; Brancati, Francesco; Guerrini, Renzo; Zara, Federico; Tsuji, Shoji; Gecz, Jozef | |
| 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 | |
| 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 | |
| Leukocyte Telomere Length as Potential Biomarker of HD Progression: A Follow-Up Study | 1-gen-2022 | Scarabino, D; Veneziano, L; Mantuano, E; Arisi, I; Fiore, A; Frontali, M; Corbo, Rm | |
| Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases. | 1-gen-2022 | Scarabino D; Veneziano L; Fiore A; Nethisinghe S; Mantuano E; GarciaMoreno H; Bellucci G; Solanky N; Morello M; Zanni G; Corbo RM; Giunti P. | |
| 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 | |
| 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 | |
| Intronic ATTTC repeat expansions in STARD7 in fam ilial adult myoclonic epilepsy linked to chromosome 2 | 1-gen-2019 | Corbett M. A.; KroesT.; Veneziano L.; Bennett M. F.; Florian R.; Schneider A. L.; Coppola A.; Licchetta L.; Franceschetti S.; Suppa A.; Wenger A.; Mei D.; Pendziwiat M.; Kaya S.; Delledonne M.; Straussberg R.; Xumerle L.; Regan B; Crompton D.; van Rootselaar A. F.; Correll A.; Catford R.; Bisulli F.; Chakraborty S.; Baldassari S.; Tinuper P.; Barton K.; Carswell S.; Smith M.; Berardelli A.; Carroll R.; Gardner A.; Friend K. L.; Blatt I.; Iacomino M.; Di Bonaventura C.; Striano S.; Buratti J.; Keren B.; Nava C.; Forlani S.; Rudolf G.; Hirsch E.; Leguern E.; Labauge P.; Balestrini S.; Sander J. W.; Afawi Z.; Helbig I.; Ishiura H.; Tsuji S.; Sisodiya S. M.; Casari G.; Sadleir L. G.; van Coller R.; Tijssen M. A. J.; Klein K. M.; van den Maagdenberg A. M. J. M.; Zara F.; Guerrini R.; Berkovic S. F.; Pippucci T.; Canafoglia L.; Bahlo M.; Striano P.; Scheffer I. E.; Brancati F.; Depienne C.; Gecz J. | |
| Leukocyte telomere shortening in Huntington's disease. | 1-gen-2019 | Scarabino D.; Veneziano L.; Peconi M.; Frontali M.; Mantuano E.; Corbo R.M. | |
| Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17 | 1-gen-2018 | Nethisinghe S.; Lim W. N.; Ging H.; Zeitlberger A.; Abeti R.; Pemble S.; Sweeney M. G.; Labrum R.; Cervera C.; Houlden H.; Rosser E.; Limousin P.; Kennedy A.; Lunn M. P.; Bhatia K. P.; Wood N. W.; Hardy J.; Polke J. M.; Veneziano L.; Brusco A.; Davis M. B.; Giunti P. | |
| Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum | 1-gen-2018 | Iodice, A; Carecchio, M; Zorzi, G; Garavaglia, B; Spagnoli, C; Salerno, Gg; Frattini, D; Mencacci, Ne; Invernizzi, F; Veneziano, L; Mantuano, E; Angriman, M; Fusco, C | |
| 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 | |
| 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 | |
| De Novo Mutations in PDE1 0A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions | 1-gen-2016 | Mencacci, N E; Kamsteeg, Ej; Nakashima, K; R'Bibo, L; Lynch, D S; Balint, B; Willemsen, M A A P; Adams, M E; Wiethoff, S; Suzuki, K; Davies, C H; Ng, J; Meyer, E; Veneziano, L; Giunti, P; Hughes, D; Raymond, F L; Carecchio, M; Zorzi, G; Nardocci, N; Barzaghi, C; Garavaglia, B; Salpietro, V; Hardy, J; Pittman, A M; Houlden, H; Kurian, M A; Kimura, H; Vissers, L E L M; Wood, N W; Bhatia, K P | |
| 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 | |
| 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. | |
| Molecular mechanism of Spinocerebellar Ataxia type 6:Glutamine repeat disorder,channelopathy and transcriptional dysregulation.The multifaceted aspects of a single mutation | 1-gen-2015 | Giunti, P; Mantuano, E; Frontali, M; Veneziano, L | |
| 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 |