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C

Cinzia Bertolin

University of Padua
H指数:20
被引数:2,856

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Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
NATURE COMMUNICATIONS
IF15.7
2022-04-2824
OAAI
Kim, Hong Joo; Mohassel, Payam; Donkervoort, Sandra; Guo, Lin; O'Donovan, Kevin; Coughlin, Maura; Lornage, Xaviere; Foulds, Nicola; Hammans, Simon R.; Foley, A. Reghan; Fare, Charlotte M.; Ford, Alice F.; Ogasawara, Masashi; Sato, Aki; Iida, Aritoshi; Munot, Pinki; Ambegaonkar, Gautam; Phadke, Rahul; O'Donovan, Dominic G.; Buchert, Rebecca; Grimmel, Mona; Topf, Ana; Zaharieva, Irina T.; Brady, Lauren; Hu, Ying; Lloyd, Thomas E.; Klein, Andrea; Steinlin, Maja; Kuster, Alice; Mercier, Sandra; Marcorelles, Pascale; Pereon, Yann; Fleurence, Emmanuelle; Manzur, Adnan; Ennis, Sarah; Upstill-Goddard, Rosanna; Bello, Luca; Bertolin, Cinzia; Pegoraro, Elena; Salviati, Leonardo; French, Courtney E.; Shatillo, Andriy; Raymond, F. Lucy; Haack, Tobias; Quijano-Roy, Susana; Bohm, Johann; Nelson, Isabelle; Stojkovic, Tanya; Evangelista, Teresinha; Straub, Volker; Romero, Norma B.; Laporte, Jocelyn; Muntoni, Francesco; Nishino, Ichizo; Tarnopolsky, Mark A.; Shorter, James; Bonnemann, Carsten G.; Taylor, J. Paul
The clinical spectrum of CASQ1-related myopathy
NEUROLOGY
IF8.5
2018-10-2318
OAAI
Semplicini, Claudio; Bertolin, Cinzia; Bello, Luca; Pantic, Boris; Guidolin, Francesca; Vianello, Sara; Catapano, Francesco; Colombo, Irene; Moggio, Maurizio; Gavassini, Bruno F.; Cenacchi, Giovanna; Papa, Valentina; Previtero, Marco; Calore, Chiara; Soraru, Gianni; Minervini, Giovanni; Tosatto, Silvio C. E.; Stramare, Roberto; Pegoraro, Elena
Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice
BRAIN
IF11.7
2017-10-0782
OAAI
Devoy, Anny; Kalmar, Bernadett; Stewart, Michelle; Park, Heesoon; Burke, Beverley; Noy, Suzanna J.; Redhead, Yushi; Humphrey, Jack; Lo, Kitty; Jaeger, Julian; Maza, Alan Mejia; Sivakumar, Prasanth; Bertolin, Cinzia; Soraru, Gianni; Plagnol, Vincent; Greensmith, Linda; Acevedo Arozena, Abraham; Isaacs, Adrian M.; Davies, Benjamin; Fratta, Pietro; Fisher, Elizabeth M. C.
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

NEK1变体赋予肌萎缩性侧索硬化症易感性

NATURE GENETICS
IF31.8
2016-07-25215
OAAI
Kenna, Kevin P.; van Doormaal, Perry T. C.; Dekker, Annelot M.; Ticozzi, Nicola; Kenna, Brendan J.; Diekstra, Frank P.; van Rheenen, Wouter; van Eijk, Kristel R.; Jones, Ashley R.; Keaglel, Pamela; Shatunov, Aleksey; Sproviero, William; Smiths, Bradley N.; van Es, Michael A.; Topps, Simon D.; Kenna, Aoife; Miller, Jack W.; Fallini, Claudia; Tiloca, Cinzia; McLaughlin, Russell L.; Vance, Caroline; Troakes, Claire; Colombrita, Claudia; Mora, Gabriele; Calvo, Andrea; Verde, Federico; Al-Sarraj, Safa; King, Andrew; Calini, Daniela; de Belleroche, Jacqueline; Baas, Frank; van der Kooi, Anneke J.; de Visser, Marianne; ten Asbroek, Anneloor L. M. A.; Sapp, Peter C.; McKenna-Yasek, Diane; Polak, Meraida; Asress, Seneshaw; Luis Munoz-Blanco, Jose; Strom, Tim M.; Meitinger, Thomas; Morrison, Karen E.; Lauria, Giuseppe; Williams, Kelly L.; Leigh, P. Nigel; Nicholson, Garth A.; Blair, Ian P.; Leblond, Claire S.; Dion, Patrick A.; Rouleau, Guy A.; Pall, Hardev; Shaw, Pamela J.; Turner, Martin R.; Talbot, Kevin; Taroni, Franco; Boylan, Kevin B.; Van Blitterswijk, Marka; Rademakers, Rosa; Esteban-Perez, Jesus; Garcia-Redondo, Alberto; Van Damme, Phillip; Robberecht, Wim; Chio, Adrian; Gellera, Cinzia; Drepper, Carsten; Sendtner, Michael; Ratti, Antonia; Glass, Jonathan D.; Mora, Jesus S.; Basak, Nazli A.; Hardiman, Orla; Ludolph, Albert C.; Andersen, Peter M.; Weishaupt, Jochen H.; Brown, Robert H., Jr.; Al-Chalabi, Ammar; Silani, Vincenzo; Shaw, Christopher E.; van den Berg, Leonard H.; Veldink, Jan H.; Landers, John E.; D'Alfonso, Sandra; Mazzini, Letizia; Comi, Giacomo P.; Del Bo, Roberto; Ceroni, Mauro; Gagliardi, Stella; Querin, Giorgia; Bertolin, Cinzia; Pensato, Viviana; Castellotti, Barbara; Corti, Stefania; Cereda, Cristina; Corrado, Lucia; Soraru, Gianni
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

全基因组关联分析确定肌萎缩侧索硬化症的新风险变异和遗传结构

NATURE GENETICS
IF31.8
2016-07-25426
OAAI
van Rheenen, Wouter; Shatunov, Aleksey; Dekker, Annelot M.; McLaughlin, Russell L.; Diekstra, Frank P.; Pulit, Sara L.; van der Spek, Rick A. A.; Vosa, Urmo; de Jong, Simone; Robinson, Matthew R.; Yang, Jian; Fogh, Isabella; van Doormaal, Perry T. C.; Tazelaar, Gijs H. P.; Koppers, Max; Blokhuis, Anna M.; Sproviero, William; Jones, Ashley R.; Kenna, Kevin P.; van Eijk, Kristel R.; Harschnitz, Oliver; Schellevis, Raymond D.; Brands, William J.; Medic, Jelena; Menelaou, Androniki; Vajda, Alice; Ticozzi, Nicola; Lin, Kuang; Rogelj, Boris; Vrabec, Katarina; Ravnik-Glavac, Metka; Koritnik, Blazi; Zidar, Janez; Leonardis, Lea; Groselj, Leja Dolenc; Millecamps, Stephanie; Salachas, Francois; Meininger, Vincent; de Carvalho, Mamede; Pinto, Susana; Mora, Jesus S.; Rojas-Garcia, Ricardo; Polak, Meraida; Chandran, Siddharthan; Colville, Shuna; Swingler, Robert; Morrison, Karen E.; Shaw, Pamela J.; Hardy, John; Orrell, Richard W.; Pittman, Alan; Sidle, Katie; Fratta, Pietro; Malaspina, Andrea; Topp, Simon; Petri, Susanne; Abdulla, Susanne; Drepper, Carsten; Sendtner, Michael; Meyer, Thomas; Ophoff, Roel A.; Staats, Kim A.; Wiedau-Pazos, Martina; Lomen-Hoerth, Catherine; Van Deerlin, Vivianna M.; Trojanowski, John Q.; Elman, Lauren; McCluskey, Leo; Basak, A. Nazli; Tunca, Ceren; Hamzeiy, Hamid; Parman, Yesim; Meitinger, Thomas; Lichtner, Peter; Radivojkov-Blagojevic, Milena; Andres, Christian R.; Maurel, Cindy; Bensimon, Gilbert; Landwehrmeyer, Bernhard; Brice, Alexis; Payan, Christine A. M.; Saker-Delye, Safaa; Duerr, Alexandra; Wood, Nicholas W.; Tittmann, Lukas; Lieb, Wolfgang; Franke, Andre; Rietschel, Marcella; Cichon, Sven; Noethen, Markus M.; Amouyel, Philippe; Tzourio, Christophe; Dartigues, Jean-Francois; Uitterlinden, Andre G.; Rivadeneira, Fernando; Estrada, Karol; Hofman, Albert; Curtis, Charles; Blauw, Hylke M.; van der Kooi, Anneke J.; de Visser, Marianne; Goris, An; Weber, Markus; Shaw, Christopher E.; Smith, Bradley N.; Pansarasa, Orietta; Cereda, Cristina; Del Bo, Roberto; Comi, Giacomo P.; D'Alfonso, Sandra; Bertolin, Cinzia; Soraru, Gianni; Mazzini, Letizia; Pensato, Viviana; Gellera, Cinzia; Tiloca, Cinzia; Ratti, Antonia; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Arcuti, Simona; Capozzo, Rosa; Zecca, Chiara; Lunetta, Christian; Penco, Silvana; Riva, Nilo; Padovani, Alessandro; Filosto, Massimiliano; Muller, Bernard; Stuit, Robbert Jan; Blair, Ian; Zhang, Katharine; McCann, Emily P.; Fifita, Jennifer A.; Nicholson, Garth A.; Rowe, Dominic B.; Pamphlett, Roger; Kiernan, Matthew C.; Grosskreutz, Julian; Witte, Otto W.; Ringer, Thomas; Prell, Tino; Stubendorff, Beatrice; Kurth, Ingo; Huebner, Christian A.; Leigh, P. Nigel; Casale, Federico; Chio, Adrian; Beghi, Ettore; Pupillo, Elisabetta; Tortelli, Rosanna; Logroscino, Giancarlo; Powell, John; Ludolph, Albert C.; Weishaupt, Jochen H.; Robberecht, Wim; Van Damme, Philip; Franke, Lude; Pers, Tune H.; Brown, Robert H.; Glass, Jonathan D.; Landers, John E.; Hardiman, Orla; Andersen, Peter M.; Corcia, Philippe; Vourc'h, Patrick; Silani, Vincenzo; Wray, Naomi R.; Visscher, Peter M.; de Bakker, Paul I. W.; van Es, Michael A.; Pasterkamp, R. Jeroen; Lewis, Cathryn M.; Breen, Gerome; Al-Chalabi, Ammar; van den Berg, Leonard H.; Veldink, Jan H.
Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
IF7.5
2015-10-2656
OAAI
Querin, Giorgia; Bertolin, Cinzia; Da Re, Elisa; Volpe, Marco; Zara, Gabriella; Pegoraro, Elena; Caretta, Nicola; Foresta, Carlo; Silvano, Maria; Corrado, Domenico; Iafrate, Massimo; Angelini, Lorenzo; Sartori, Leonardo; Pennuto, Maria; Gaiani, Alessandra; Bello, Luca; Semplicini, Claudio; Pareyson, Davide; Silani, Vincenzo; Ermani, Mario; Ferlin, Alberto; Soraru, Gianni
Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia

在散发性肌萎缩性侧索硬化症和额颞叶痴呆中筛选PFN1基因

NEUROBIOLOGY OF AGING
IF3.5
2013-05-0132
OAAI
Tiloca, Cinzia; Ticozzi, Nicola; Pensato, Viviana; Corrado, Lucia; Del Bo, Roberto; Bertolin, Cinzia; Fenoglio, Chiara; Gagliardi, Stella; Calini, Daniela; Lauria, Giuseppe; Castellotti, Barbara; Bagarotti, Alessandra; Corti, Stefania; Galimberti, Daniela; Cagnin, Annachiara; Gabelli, Carlo; Ranieri, Michela; Ceroni, Mauro; Siciliano, Gabriele; Mazzini, Letizia; Cereda, Cristina; Scarpini, Elio; Soraru, Gianni; Comi, Giacomo P.; D'Alfonso, Sandra; Gellera, Cinzia; Ratti, Antonia; Landers, John E.; Silani, Vincenzo

研究方向

暂未获取到该数据
G
Gianni Sorarú
H 指数:51论文数:251被引数:1.0万
E
Elena Pegoraro
H 指数:73论文数:490被引数:1.5万
G
Giorgia Querin
H 指数:29论文数:96被引数:2,640
L
Luca Bello
H 指数:41论文数:218被引数:5,744
I
Ilaria Martinelli
H 指数:18论文数:77被引数:1,152
L
Leonardo Salviati
H 指数:61论文数:301被引数:1.5万
V
Vincenzo Silani
H 指数:84论文数:781被引数:2.7万
C
Cinzia Gellera
H 指数:63论文数:308被引数:1.6万
A
Antonia Ratti
H 指数:47论文数:216被引数:9,866
V
Viviana Pensato
H 指数:23论文数:73被引数:3,833