VENEZIANO, LIANA

VENEZIANO, LIANA  

FARMACOLOGIA TRASLAZIONALE - IFT  

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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.
Homo sapiens pro-nerve growth factor long variant (NGF) mRNA, complete cds, alternatively spliced 1-gen-2018 Soligo;M.; Manni;L.; Veneziano;L.;Mantuano;E.
Rattus norvegicus strain Wistar pro-nerve growth factor long variant (Ngf) mRNA, complete cds, alternatively spliced 1-gen-2018 Soligo, Marzia; M, ; Mantuano, Elide; E, ; Veneziano, Liana; L, ; Manni, Luigi; L,
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
Genes that affect synaptic excitability and transmission identified by rare variant analyses in episodic ataxias 1-gen-2017 Stephanie Efthymiou ; Vincenzo Salpietro ; Marisol SampedroCastañeda ; Andreea Manole ; Thomas Bourinaris ; ; Emer O'Connor ; Liana Veneziano ; Elide Mantuano ; Marina Frontali ; Paola Giunti ; Richard Boles ;; Elena Dominguez Garrido ; Conceicao Bettencourt ; Juan A. Botia ; Mina Ryten ; Jana Vandrovcova ; Samuel McCall ; Robyn W. Labrum ; Sameer Zuberi ; Alfons Macaya ; Dimitri M. Kullmann ; Roope Manniko ; Henry Houlden ; Michael G. Hanna ; SYNAPS Study Group
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
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
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