VENEZIANO, LIANA
VENEZIANO, LIANA
Istituto di Farmacologia Traslazionale - (IFT)
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
2024 Null, Null; Jain, Shantanu; Bakolitsa, Constantina; Brenner, Steven E.; Radivojac, Predrag; Moult, John; Repo, Susanna; Hoskins, Roger A.; Andreoletti, Gaia; Barsky, Daniel; Chellapan, Ajithavalli; Chu, Hoyin; Dabbiru, Navya; Kollipara, Naveen K.; Ly, Melissa; Neumann, Andrew J.; Pal, Lipika R.; Odell, Eric; Pandey, Gaurav; Peters-Petrulewicz, Robin C.; Srinivasan, Rajgopal; Yee, Stephen F.; Yeleswarapu, Sri Jyothsna; Zuhl, Maya; Adebali, Ogun; Patra, Ayoti; Beer, Michael A.; Hosur, Raghavendra; Peng, Jian; Bernard, Brady M.; Berry, Michael; Dong, Shengcheng; Boyle, Alan P.; Adhikari, Aashish; Chen, Jingqi; Hu, Zhiqiang; Wang, Robert; Wang, Yaqiong; Miller, Maximilian; Wang, Yanran; Bromberg, Yana; Turina, Paola; Capriotti, Emidio; Han, James J.; Ozturk, Kivilcim; Carter, Hannah; Babbi, Giulia; Bovo, Samuele; Di Lena, Pietro; Martelli, Pier Luigi; Savojardo, Castrense; Casadio, Rita; Cline, Melissa S.; De Baets, Greet; Bonache, Sandra; Díez, Orland; Gutiérrez-Enríquez, Sara; Fernández, Alejandro; Montalban, Gemma; Ootes, Lars; Özkan, Selen; Padilla, Natàlia; Riera, Casandra; De la Cruz, Xavier; Diekhans, Mark; Huwe, Peter J.; Wei, Qiong; Xu, Qifang; Dunbrack, Roland L.; Gotea, Valer; Elnitski, Laura; Margolin, Gennady; Fariselli, Piero; Kulakovskiy, Ivan V.; Makeev, Vsevolod J.; Penzar, Dmitry D.; Vorontsov, Ilya E.; Favorov, Alexander V.; Forman, Julia R.; Hasenahuer, Marcia; Fornasari, Maria S.; Parisi, Gustavo; Avsec, Ziga; Çelik, Muhammed H.; Nguyen, Thi Yen Duong; Gagneur, Julien; Shi, Fang-Yuan; Edwards, Matthew D.; Guo, Yuchun; Tian, Kevin; Zeng, Haoyang; Gifford, David K.; Göke, Jonathan; Zaucha, Jan; Gough, Julian; Ritchie, Graham R. S.; Frankish, Adam; Mudge, Jonathan M.; Harrow, Jennifer; Young, Erin L.; Yu, Yao; Huff, Chad D.; Murakami, Katsuhiko; Nagai, Yoko; Imanishi, Tadashi; Mungall, Christopher J.; Jacobsen, Julius O. B.; Kim, Dongsup; Jeong, Chan-Seok; Jones, David T.; Li, Mulin Jun; Guthrie, Violeta Beleva; Bhattacharya, Rohit; Chen, Yun-Ching; Douville, Christopher; Fan, Jean; Kim, Dewey; Masica, David; Niknafs, Noushin; Sengupta, Sohini; Tokheim, Collin; Turner, Tychele N.; Yeo, Hui Ting Grace; Karchin, Rachel; Shin, Sunyoung; Welch, Rene; Keles, Sunduz; Li, Yue; Kellis, Manolis; Corbi-Verge, Carles; Strokach, Alexey V.; Kim, Philip M.; Klein, Teri E.; Mohan, Rahul; Sinnott-Armstrong, Nicholas A.; Wainberg, Michael; Kundaje, Anshul; Gonzaludo, Nina; Mak, Angel C. Y.; Chhibber, Aparna; Lam, Hugo Y. K.; Dahary, Dvir; Fishilevich, Simon; Lancet, Doron; Lee, Insuk; Bachman, Benjamin; Katsonis, Panagiotis; Lua, Rhonald C.; Wilson, Stephen J.; Lichtarge, Olivier; Bhat, Rajendra R.; Sundaram, Laksshman; Viswanath, Vivek; Bellazzi, Riccardo; Nicora, Giovanna; Rizzo, Ettore; Limongelli, Ivan; Mezlini, Aziz M.; Chang, Ray; Kim, Serra; Lai, Carmen; O'Connor, Robert; Topper, Scott; van den Akker, Jeroen; Zhou, Alicia Y.; Zimmer, Anjali D.; Mishne, Gilad; Bergquist, Timothy R.; Breese, Marcus R.; Guerrero, Rafael F.; Jiang, Yuxiang; Kiga, Nikki; Li, Biao; Mort, Matthew; Pagel, Kymberleigh A.; Pejaver, Vikas; Stamboulian, Moses H.; Thusberg, Janita; Mooney, Sean D.; Teerakulkittipong, Nuttinee; Cao, Chen; Kundu, Kunal; Yin, Yizhou; Yu, Chen-Hsin; Kleyman, Michael; Lin, Chiao-Feng; Stackpole, Mary; Mount, Stephen M.; Eraslan, Gökcen; Mueller, Nikola S.; Naito, Tatsuhiko; Rao, Aliz R.; Azaria, Johnathan R.; Brodie, Aharon; Ofran, Yanay; Garg, Aditi; Pal, Debnath; Hawkins-Hooker, Alex; Kenlay, Henry; Reid, John; Mucaki, Eliseos J.; Rogan, Peter K.; Schwarz, Jana M.; Searls, David B.; Lee, Gyu Rie; Seok, Chaok; Krämer, Andreas; Shah, Sohela; Huang, ChengLai V.; Kirsch, Jack F.; Shatsky, Maxim; Cao, Yue; Chen, Haoran; Karimi, Mostafa; Moronfoye, Oluwaseyi; Sun, Yuanfei; Shen, Yang; Shigeta, Ron; Ford, Colby T.; Nodzak, Conor; Uppal, Aneeta; Shi, Xinghua; Joseph, Thomas; Kotte, Sujatha; Rana, Sadhna; Rao, Aditya; Saipradeep, V. G.; Sivadasan, Naveen; Sunderam, Uma; Stanke, Mario; Su, Andrew; Adzhubey, Ivan; Jordan, Daniel M.; Sunyaev, Shamil; Rousseau, Frederic; Schymkowitz, Joost; Van Durme, Joost; Tavtigian, Sean V.; Carraro, Marco; Giollo, Manuel; Tosatto, Silvio C. E.; Adato, Orit; Carmel, Liran; Cohen, Noa E.; Fenesh, Tzila; Holtzer, Tamar; Juven-Gershon, Tamar; Unger, Ron; Niroula, Abhishek; Olatubosun, Ayodeji; Väliaho, Jouni; Yang, Yang; Vihinen, Mauno; Wahl, Mary E.; Chang, Billy; Chong, Ka Chun; Hu, Inchi; Sun, Rui; Wu, William Ka Kei; Xia, Xiaoxuan; Zee, Benny C.; Wang, Maggie H.; Wang, Meng; Wu, Chunlei; Lu, Yutong; Chen, Ken; Yang, Yuedong; Yates, Christopher M.; Kreimer, Anat; Yan, Zhongxia; Yosef, Nir; Zhao, Huying; Wei, Zhipeng; Yao, Zhaomin; Zhou, Fengfeng; Folkman, Lukas; Zhou, Yaoqi; Daneshjou, Roxana; Altman, Russ B.; Inoue, Fumitaka; Ahituv, Nadav; Arkin, Adam P.; Lovisa, Federica; Bonvini, Paolo; Bowdin, Sarah; Gianni, Stefano; Mantuano, Elide; Minicozzi, Velia; Novak, Leonore; Pasquo, Alessandra; Pastore, Annalisa; Petrosino, Maria; Puglisi, Rita; Toto, Angelo; Veneziano, Liana; Chiaraluce, Roberta; Ball, Mad P.; Bobe, Jason R.; Church, George M.; Consalvi, Valerio; Cooper, David N.; Buckley, Bethany A.; Sheridan, Molly B.; Cutting, Garry R.; Scaini, Maria Chiara; Cygan, Kamil J.; Fredericks, Alger M.; Glidden, David T.; Neil, Christopher; Rhine, Christy L.; Fairbrother, William G.; Alontaga, Aileen Y.; Fenton, Aron W.; Matreyek, Kenneth A.; Starita, Lea M.; Fowler, Douglas M.; Löscher, Britt-Sabina; Franke, Andre; Adamson, Scott I.; Graveley, Brenton R.; Gray, Joe W.; Malloy, Mary J.; Kane, John P.; Kousi, Maria; Katsanis, Nicholas; Schubach, Max; Kircher, Martin; Mak, Angel C. Y.; Tang, Paul L. F.; Kwok, Pui-Yan; Lathrop, Richard H.; Clark, Wyatt T.; Yu, Guoying K.; Lebowitz, Jonathan H.; Benedicenti, Francesco; Bettella, Elisa; Bigoni, Stefania; Cesca, Federica; Mammi, Isabella; Marino-Buslje, Cristina; Milani, Donatella; Peron, Angela; Polli, Roberta; Sartori, Stefano; Stanzial, Franco; Toldo, Irene; Turolla, Licia; Aspromonte, Maria C.; Bellini, Mariagrazia; Leonardi, Emanuela; Liu, Xiaoming; Marshall, Christian; Mccombie, W. Richard; Elefanti, Lisa; Menin, Chiara; Meyn, M. Stephen; Murgia, Alessandra; Nadeau, Kari C. Y.; Neuhausen, Susan L.; Nussbaum, Robert L.; Pirooznia, Mehdi; Potash, James B.; Dimster-Denk, Dago F.; Rine, Jasper D.; Sanford, Jeremy R.; Snyder, Michael; Cote, Atina G.; Sun, Song; Verby, Marta W.; Weile, Jochen; Roth, Frederick P.; Tewhey, Ryan; Sabeti, Pardis C.; Campagna, Joan; Refaat, Marwan M.; Wojciak, Julianne; Grubb, Soren; Schmitt, Nicole; Shendure, Jay; Spurdle, Amanda B.; Stavropoulos, Dimitri J.; Walton, Nephi A.; Zandi, Peter P.; Ziv, Elad; Burke, Wylie; Chen, Flavia; Carr, Lawrence R.; Martinez, Selena; Paik, Jodi; Harris-Wai, Julie; Yarborough, Mark; Fullerton, Stephanie M.; Koenig, Barbara A.; Mcinnes, Gregory; Shigaki, Dustin; Chandonia, John-Marc; Furutsuki, Mabel; Kasak, Laura; Yu, Changhua; Chen, Rui; Friedberg, Iddo; Getz, Gad A.; Cong, Qian; Kinch, Lisa N.; Zhang, Jing; Grishin, Nick V.; Voskanian, Alin; Kann, Maricel G.; Tran, Elizabeth; Ioannidis, Nilah M.; Hunter, Jesse M.; Udani, Rupa; Cai, Binghuang; Morgan, Alexander A.; Sokolov, Artem; Stuart, Joshua M.; Minervini, Giovanni; Monzon, Alexander M.; Batzoglou, Serafim; Butte, Atul J.; Greenblatt, Marc S.; Hart, Reece K.; Hernandez, Ryan; Hubbard, Tim J. P.; Kahn, Scott; O'Donnell-Luria, Anne; Ng, Pauline C.; Shon, John; Veltman, Joris; Zook, Justin M.
Unusual Age-Dependent Behavior of Leukocytes Telomere Length in Friedreich's Ataxia
2024 Scarabino, Daniela; Veneziano, Liana; Nethisinghe, Suran; Mantuano, Elide; Fiore, Alessia; Granata, Giulia; Solanky, Nita; Zanni, Ginevra; Cavalcanti, Francesca; Corbo, Rosa Maria; Giunti, Paola
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
Tra diritto di sapere e diritto di non sapere: gestire l’impatto della diagnosi di Malattia di Huntington
2023 Mancini, E.; Veneziano, L.; Zagarella, R. 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
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.
Homo sapiens pro-nerve growth factor long variant (NGF) mRNA, complete cds, alternatively spliced
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
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
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
Genes that affect synaptic excitability and transmission identified by rare variant analyses in episodic ataxias
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods | 1-gen-2024 | Null, Null; Jain, Shantanu; Bakolitsa, Constantina; Brenner, Steven E.; Radivojac, Predrag; Moult, John; Repo, Susanna; Hoskins, Roger A.; Andreoletti, Gaia; Barsky, Daniel; Chellapan, Ajithavalli; Chu, Hoyin; Dabbiru, Navya; Kollipara, Naveen K.; Ly, Melissa; Neumann, Andrew J.; Pal, Lipika R.; Odell, Eric; Pandey, Gaurav; Peters-Petrulewicz, Robin C.; Srinivasan, Rajgopal; Yee, Stephen F.; Yeleswarapu, Sri Jyothsna; Zuhl, Maya; Adebali, Ogun; Patra, Ayoti; Beer, Michael A.; Hosur, Raghavendra; Peng, Jian; Bernard, Brady M.; Berry, Michael; Dong, Shengcheng; Boyle, Alan P.; Adhikari, Aashish; Chen, Jingqi; Hu, Zhiqiang; Wang, Robert; Wang, Yaqiong; Miller, Maximilian; Wang, Yanran; Bromberg, Yana; Turina, Paola; Capriotti, Emidio; Han, James J.; Ozturk, Kivilcim; Carter, Hannah; Babbi, Giulia; Bovo, Samuele; Di Lena, Pietro; Martelli, Pier Luigi; Savojardo, Castrense; Casadio, Rita; Cline, Melissa S.; De Baets, Greet; Bonache, Sandra; Díez, Orland; Gutiérrez-Enríquez, Sara; Fernández, Alejandro; Montalban, Gemma; Ootes, Lars; Özkan, Selen; Padilla, Natàlia; Riera, Casandra; De la Cruz, Xavier; Diekhans, Mark; Huwe, Peter J.; Wei, Qiong; Xu, Qifang; Dunbrack, Roland L.; Gotea, Valer; Elnitski, Laura; Margolin, Gennady; Fariselli, Piero; Kulakovskiy, Ivan V.; Makeev, Vsevolod J.; Penzar, Dmitry D.; Vorontsov, Ilya E.; Favorov, Alexander V.; Forman, Julia R.; Hasenahuer, Marcia; Fornasari, Maria S.; Parisi, Gustavo; Avsec, Ziga; Çelik, Muhammed H.; Nguyen, Thi Yen Duong; Gagneur, Julien; Shi, Fang-Yuan; Edwards, Matthew D.; Guo, Yuchun; Tian, Kevin; Zeng, Haoyang; Gifford, David K.; Göke, Jonathan; Zaucha, Jan; Gough, Julian; Ritchie, Graham R. S.; Frankish, Adam; Mudge, Jonathan M.; Harrow, Jennifer; Young, Erin L.; Yu, Yao; Huff, Chad D.; Murakami, Katsuhiko; Nagai, Yoko; Imanishi, Tadashi; Mungall, Christopher J.; Jacobsen, Julius O. B.; Kim, Dongsup; Jeong, Chan-Seok; Jones, David T.; Li, Mulin Jun; Guthrie, Violeta Beleva; Bhattacharya, Rohit; Chen, Yun-Ching; Douville, Christopher; Fan, Jean; Kim, Dewey; Masica, David; Niknafs, Noushin; Sengupta, Sohini; Tokheim, Collin; Turner, Tychele N.; Yeo, Hui Ting Grace; Karchin, Rachel; Shin, Sunyoung; Welch, Rene; Keles, Sunduz; Li, Yue; Kellis, Manolis; Corbi-Verge, Carles; Strokach, Alexey V.; Kim, Philip M.; Klein, Teri E.; Mohan, Rahul; Sinnott-Armstrong, Nicholas A.; Wainberg, Michael; Kundaje, Anshul; Gonzaludo, Nina; Mak, Angel C. Y.; Chhibber, Aparna; Lam, Hugo Y. K.; Dahary, Dvir; Fishilevich, Simon; Lancet, Doron; Lee, Insuk; Bachman, Benjamin; Katsonis, Panagiotis; Lua, Rhonald C.; Wilson, Stephen J.; Lichtarge, Olivier; Bhat, Rajendra R.; Sundaram, Laksshman; Viswanath, Vivek; Bellazzi, Riccardo; Nicora, Giovanna; Rizzo, Ettore; Limongelli, Ivan; Mezlini, Aziz M.; Chang, Ray; Kim, Serra; Lai, Carmen; O'Connor, Robert; Topper, Scott; van den Akker, Jeroen; Zhou, Alicia Y.; Zimmer, Anjali D.; Mishne, Gilad; Bergquist, Timothy R.; Breese, Marcus R.; Guerrero, Rafael F.; Jiang, Yuxiang; Kiga, Nikki; Li, Biao; Mort, Matthew; Pagel, Kymberleigh A.; Pejaver, Vikas; Stamboulian, Moses H.; Thusberg, Janita; Mooney, Sean D.; Teerakulkittipong, Nuttinee; Cao, Chen; Kundu, Kunal; Yin, Yizhou; Yu, Chen-Hsin; Kleyman, Michael; Lin, Chiao-Feng; Stackpole, Mary; Mount, Stephen M.; Eraslan, Gökcen; Mueller, Nikola S.; Naito, Tatsuhiko; Rao, Aliz R.; Azaria, Johnathan R.; Brodie, Aharon; Ofran, Yanay; Garg, Aditi; Pal, Debnath; Hawkins-Hooker, Alex; Kenlay, Henry; Reid, John; Mucaki, Eliseos J.; Rogan, Peter K.; Schwarz, Jana M.; Searls, David B.; Lee, Gyu Rie; Seok, Chaok; Krämer, Andreas; Shah, Sohela; Huang, ChengLai V.; Kirsch, Jack F.; Shatsky, Maxim; Cao, Yue; Chen, Haoran; Karimi, Mostafa; Moronfoye, Oluwaseyi; Sun, Yuanfei; Shen, Yang; Shigeta, Ron; Ford, Colby T.; Nodzak, Conor; Uppal, Aneeta; Shi, Xinghua; Joseph, Thomas; Kotte, Sujatha; Rana, Sadhna; Rao, Aditya; Saipradeep, V. G.; Sivadasan, Naveen; Sunderam, Uma; Stanke, Mario; Su, Andrew; Adzhubey, Ivan; Jordan, Daniel M.; Sunyaev, Shamil; Rousseau, Frederic; Schymkowitz, Joost; Van Durme, Joost; Tavtigian, Sean V.; Carraro, Marco; Giollo, Manuel; Tosatto, Silvio C. E.; Adato, Orit; Carmel, Liran; Cohen, Noa E.; Fenesh, Tzila; Holtzer, Tamar; Juven-Gershon, Tamar; Unger, Ron; Niroula, Abhishek; Olatubosun, Ayodeji; Väliaho, Jouni; Yang, Yang; Vihinen, Mauno; Wahl, Mary E.; Chang, Billy; Chong, Ka Chun; Hu, Inchi; Sun, Rui; Wu, William Ka Kei; Xia, Xiaoxuan; Zee, Benny C.; Wang, Maggie H.; Wang, Meng; Wu, Chunlei; Lu, Yutong; Chen, Ken; Yang, Yuedong; Yates, Christopher M.; Kreimer, Anat; Yan, Zhongxia; Yosef, Nir; Zhao, Huying; Wei, Zhipeng; Yao, Zhaomin; Zhou, Fengfeng; Folkman, Lukas; Zhou, Yaoqi; Daneshjou, Roxana; Altman, Russ B.; Inoue, Fumitaka; Ahituv, Nadav; Arkin, Adam P.; Lovisa, Federica; Bonvini, Paolo; Bowdin, Sarah; Gianni, Stefano; Mantuano, Elide; Minicozzi, Velia; Novak, Leonore; Pasquo, Alessandra; Pastore, Annalisa; Petrosino, Maria; Puglisi, Rita; Toto, Angelo; Veneziano, Liana; Chiaraluce, Roberta; Ball, Mad P.; Bobe, Jason R.; Church, George M.; Consalvi, Valerio; Cooper, David N.; Buckley, Bethany A.; Sheridan, Molly B.; Cutting, Garry R.; Scaini, Maria Chiara; Cygan, Kamil J.; Fredericks, Alger M.; Glidden, David T.; Neil, Christopher; Rhine, Christy L.; Fairbrother, William G.; Alontaga, Aileen Y.; Fenton, Aron W.; Matreyek, Kenneth A.; Starita, Lea M.; Fowler, Douglas M.; Löscher, Britt-Sabina; Franke, Andre; Adamson, Scott I.; Graveley, Brenton R.; Gray, Joe W.; Malloy, Mary J.; Kane, John P.; Kousi, Maria; Katsanis, Nicholas; Schubach, Max; Kircher, Martin; Mak, Angel C. Y.; Tang, Paul L. F.; Kwok, Pui-Yan; Lathrop, Richard H.; Clark, Wyatt T.; Yu, Guoying K.; Lebowitz, Jonathan H.; Benedicenti, Francesco; Bettella, Elisa; Bigoni, Stefania; Cesca, Federica; Mammi, Isabella; Marino-Buslje, Cristina; Milani, Donatella; Peron, Angela; Polli, Roberta; Sartori, Stefano; Stanzial, Franco; Toldo, Irene; Turolla, Licia; Aspromonte, Maria C.; Bellini, Mariagrazia; Leonardi, Emanuela; Liu, Xiaoming; Marshall, Christian; Mccombie, W. Richard; Elefanti, Lisa; Menin, Chiara; Meyn, M. Stephen; Murgia, Alessandra; Nadeau, Kari C. Y.; Neuhausen, Susan L.; Nussbaum, Robert L.; Pirooznia, Mehdi; Potash, James B.; Dimster-Denk, Dago F.; Rine, Jasper D.; Sanford, Jeremy R.; Snyder, Michael; Cote, Atina G.; Sun, Song; Verby, Marta W.; Weile, Jochen; Roth, Frederick P.; Tewhey, Ryan; Sabeti, Pardis C.; Campagna, Joan; Refaat, Marwan M.; Wojciak, Julianne; Grubb, Soren; Schmitt, Nicole; Shendure, Jay; Spurdle, Amanda B.; Stavropoulos, Dimitri J.; Walton, Nephi A.; Zandi, Peter P.; Ziv, Elad; Burke, Wylie; Chen, Flavia; Carr, Lawrence R.; Martinez, Selena; Paik, Jodi; Harris-Wai, Julie; Yarborough, Mark; Fullerton, Stephanie M.; Koenig, Barbara A.; Mcinnes, Gregory; Shigaki, Dustin; Chandonia, John-Marc; Furutsuki, Mabel; Kasak, Laura; Yu, Changhua; Chen, Rui; Friedberg, Iddo; Getz, Gad A.; Cong, Qian; Kinch, Lisa N.; Zhang, Jing; Grishin, Nick V.; Voskanian, Alin; Kann, Maricel G.; Tran, Elizabeth; Ioannidis, Nilah M.; Hunter, Jesse M.; Udani, Rupa; Cai, Binghuang; Morgan, Alexander A.; Sokolov, Artem; Stuart, Joshua M.; Minervini, Giovanni; Monzon, Alexander M.; Batzoglou, Serafim; Butte, Atul J.; Greenblatt, Marc S.; Hart, Reece K.; Hernandez, Ryan; Hubbard, Tim J. P.; Kahn, Scott; O'Donnell-Luria, Anne; Ng, Pauline C.; Shon, John; Veltman, Joris; Zook, Justin M. | |
| Unusual Age-Dependent Behavior of Leukocytes Telomere Length in Friedreich's Ataxia | 1-gen-2024 | Scarabino, Daniela; Veneziano, Liana; Nethisinghe, Suran; Mantuano, Elide; Fiore, Alessia; Granata, Giulia; Solanky, Nita; Zanni, Ginevra; Cavalcanti, Francesca; Corbo, Rosa Maria; Giunti, Paola | |
| 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 | |
| Tra diritto di sapere e diritto di non sapere: gestire l’impatto della diagnosi di Malattia di Huntington | 1-gen-2023 | Mancini, E.; Veneziano, L.; Zagarella, R. 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 | |
| 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 |