BERTOLIN, CINZIA
BERTOLIN, CINZIA
A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset
2006 Vazza, Giovanni; Merlini, L; Bertolin, Cinzia; Zortea, Michela; Mostacciuolo, MARIA LUISA
A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis.
2020 Caroppo, Francesca; Cama, ELENA MARIA; Salmaso, Roberto; Bertolin, Cinzia; Salviati, Leonardo; BELLONI FORTINA, Anna
An adult patient with 3-methylglutaconic aciduria type 1 and movement disorders
2022 Mainardi, M; Lerjefors, L; Bonato, G; Bertolin, C; Salviati, L; Carecchio, M
Analysis of complete mitochondrial genomes of patients with schizophrenia and bipolar disorder.
2011 Bertolin, Cinzia; Magri, C; Barlati, S; Vettori, Andrea; Perini, Giulia; Peruzzi, P; Mostacciuolo, MARIA LUISA; Vazza, Giovanni
Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy
2020 D., Schijven; R., Stevelink; M., Mccormack; W., van Rheenen; J. J., Luykx; B. P. C., Koeleman; J. H., Veldink; Shatunov, Aleksey; Mclaughlin, Russell L.; van der Spek, Rick A. A.; Iacoangeli, Alfredo; Kenna, Kevin P.; van Eijk, Kristel R.; Ticozzi, Nicola; Rogelj, Boris; Vrabec, Katarina; Ravnik-Glavač, Metka; Koritnik, Blaž; Zidar, Janez; Leonardis, Lea; Dolenc Grošelj, Leja; Millecamps, Stéphanie; Salachas, François; Meininger, Vincent; de Carvalho, Mamede; Pinto, Susana; Gromicho, Marta; Pronto-Laborinho, Ana; Mora, Jesus S.; Rojas-García, 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, Susanna; 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; Nazli Basak, A.; Meitinger, Thomas; Lichtner, Peter; Blagojevic-Radivojkov, Milena; Andres, Christian R.; Bensimon, Gilbert; Landwehrmeyer, Bernhard; Brice, Alexis; Payan, Christine A. M.; Saker-Delye, Safaa; Dürr, Alexandra; Wood, Nicholas W.; Tittmann, Lukas; Lieb, Wolfgang; Franke, Andre; Rietschel, Marcella; Cichon, Sven; Nöthen, Markus M.; Amouyel, Philippe; Tzourio, Christophe; Dartigues, Jean-François; Uitterlinden, Andre G.; Rivadeneira, Fernando; Estrada, Karol; Hofman, Albert; Curtis, Charles; van der Kooi, Anneke J.; Weber, Markus; Shaw, Christopher E.; Smith, Bradley N.; Sproviero, Daisy; Cereda, Cristina; Ceroni, Mauro; Diamanti, Luca; Del Bo, Roberto; Corti, Stefania; Comi, Giacomo P.; D'Alfonso, Sandra; Corrado, Lucia; Bertolin, Cinzia; Sorarù, 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; Blair, Ian; Nicholson, Garth A.; Rowe, Dominic B.; Pamphlett, Roger; Kiernan, Matthew C.; Grosskreutz, Julian; Witte, Otto W.; Steinbach, Robert; Prell, Tino; Stubendorff, Beatrice; Kurth, Ingo; Hübner, Christian A.; Nigel Leigh, P.; Casale, Federico; Chio, Adriano; Beghi, Ettore; Pupillo, Elisabetta; Tortelli, Rosanna; Logroscino, Giancarlo; Powell, John; Ludolph, Albert C.; Weishaupt, Jochen H.; Robberecht, Wim; Van Damme, Philip; Brown, Robert H.; Glass, Jonathan D.; Landers, John E.; Hardiman, Orla; Andersen, Peter M.; Corcia, Philippe; Vourc'H, Patrick; Silani, Vincenzo; van Es, Michael A.; Jeroen Pasterkamp, R.; Lewis, Cathryn M.; Breen, Gerome; Al-Chalabi, Ammar; van den Berg, Leonard H.; Veldink, Jan H.; Calini, Daniela; Fogh, Isabella; Ratti, Antonia; Silani, Vincenzo; Ticozzi, Nicola; Tiloca, Cinzia; Castellotti, Barbara; Gellera, Cinzia; Pensato, Viviana; Taroni, Franco; Cereda, Cristina; Ceroni, Mauro; Gagliardi, Stella; Comi, Giacomo; Corti, Stefania; Del Bo, Roberto; Corrado, Lucia; D’Alfonso, Sandra; Mazzini, Letizia; Pegoraro, Elena; Querin, Giorgia; Sorarù, Gianni; Gerardi, Francesca; Rinaldi, Fabrizio; Sofia Cotelli, Maria; Chiveri, Luca; Cristina Guaita, Maria; Perrone, Patrizia; Comi, Giancarlo; Ferrarese, Carlo; Tremolizzo, Lucio; Delodovici, Marialuisa; Bono, Giorgio; Cammarosano, Stefania; Canosa, Antonio; Cocito, Dario; Lopiano, Leonardo; Durelli, Luca; Ferrero, Bruno; Bertolotto, Antonio; Mauro, Alessandro; Pradotto, Luca; Cantello, Roberto; Bersano, Enrica; Giobbe, Dario; Gionco, Maurizio; Leotta, Daniela; Appendino, Lucia; Cavallo, Cavallo; Odddenino, Enrico; Geda, Claudio; Poglio, Fabio; Santimaria, Paola; Massazza, Umberto; Villani, Antonio; Conti, Roberto; Pisano, Fabrizio; Palermo, Mario; Vergnano, Franco; Provera, Paolo; Teresa Penza, Maria; Aguggia, Marco; Di Vito, Nicoletta; Meineri, Piero; Pastore, Ilaria; Ghiglione, Paolo; Seliak, Danilo; Launaro, Nicola; Astegiano, Giovanni; Edo, Bottacchi; Laura Simone, Isabella; Zoccolella, Stefano; Zarrelli, Michele; Apollo, Franco; Camu, William; Sebastien Hulot, Jean; Viallet, Francois; Couratier, Philippe; Maltete, David; Tranchant, Christine; Vidailhet, Marie; Abou-Khalil, Bassel; Auce, Pauls; Avbersek, Andreja; Bahlo, Melanie; J Balding, David; Bast, Thomas; Baum, Larry; J Becker, Albert; Becker, Felicitas; Berghuis, Bianca; F Berkovic, Samuel; E Boysen, Katja; P Bradfield, Jonathan; C Brody, Lawrence; J Buono, Russell; Campbell, Ellen; D Cascino, Gregory; B Catarino, Claudia; L Cavalleri, Gianpiero; S Cherny, Stacey; Chinthapalli, Krishna; J Coffey, Alison; Compston, Alastair; Coppola, Antonietta; Cossette, Patrick; J Craig, John; de Haan, Gerrit-Jan; De Jonghe, Peter; F de Kovel, Carolien G; Delanty, Norman; Depondt, Chantal; Devinsky, Orrin; J Dlugos, Dennis; P Doherty, Colin; E Elger, Christian; G Eriksson, Johan; N Ferraro, Thomas; Feucht, Martha; Francis, Ben; Franke, Andre; A French, Jacqueline; Freytag, Saskia; Gaus, Verena; B Geller, Eric; Gieger, Christian; Glauser, Tracy; Glynn, Simon; B Goldstein, David; Gui, Hongsheng; Guo, Youling; F Haas, Kevin; Hakonarson, Hakon; Hallmann, Kerstin; Haut, Sheryl; L Heinzen, Erin; Helbig, Ingo; Hengsbach, Christian; Hjalgrim, Helle; Iacomino, Michele; Ingason, Andrés; R Johnson, Michael; Kälviäinen, Reetta; Kantanen, Anne-Mari; Kasperavičiūte, Dalia; Kasteleijn-Nolst Trenite, Dorothee; E Kirsch, Heidi; C Knowlton, Robert; C Koeleman, Bobby P; Krause, Roland; Krenn, Martin; S Kunz, Wolfram; Kuzniecky, Ruben; Kwan, Patrick; Lal, Dennis; Lau, Yu-Lung; Lehesjoki, Anna-Elina; Lerche, Holger; Leu, Costin; Lieb, Wolfgang; Lindhout, Dick; D Lo, Warren; Lopes-Cendes, Iscia; H Lowenstein, Daniel; Malovini, Alberto; G Marson, Anthony; Mayer, Thomas; Mccormack, Mark; L Mills, James; Mirza, Nasir; Moerzinger, Martina; S Møller, Rikke; M Molloy, Anne; Muhle, Hiltrud; Newton, Mark; Ng, Ping-Wing; M Nöthen, Markus; Nürnberg, Peter; J O’Brien, Terence; L Oliver, Karen; Palotie, Aarno; Pangilinan, Faith; Peter, Sarah; Petrovski, Slavé; Poduri, Annapurna; Privitera, Michael; Radtke, Rodney; Rau, Sarah; S Reif, Philipp; M Reinthaler, Eva; Rosenow, Felix; W Sander, Josemir; Sander, Thomas; Scattergood, Theresa; C Schachter, Steven; J Schankin, Christoph; E Scheffer, Ingrid; Schmitz, Bettina; Schoch, Susanne; C Sham, Pak; J Shih, Jerry; J Sills, Graeme; M Sisodiya, Sanjay; Slattery, Lisa; Smith, Alexander; F Smith, David; C Smith, Michael; E Smith, Philip; M Sonsma, Anja C; Speed, Doug; R Sperling, Michael; J Steinhoff, Bernhard; Stephani, Ulrich; Stevelink, Remi; Strauch, Konstantin; Striano, Pasquale; Stroink, Hans; Surges, Rainer; Meng Tan, K; Lin Thio, Liu; Neil Thomas, G; Todaro, Marian; Tozzi, Rossana; S Vari, Maria; G Vining, Eileen P; Visscher, Frank; von Spiczak, Sarah; M Walley, Nicole; G Weber, Yvonne; Wei, Zhi; Weisenberg, Judith; D Whelan, Christopher; Widdess-Walsh, Peter; Wolff, Markus; Wolking, Stefan; Yang, Wanling; Zara, Federico; Zimprich, Fritz
Genetic inheritance of schizophrenia and bipolar disorder in an Italian population isolate
2006 C., Scapoli; Rampinelli, Sabina; Vazza, Giovanni; P., Peruzzi; G. D., Sanctis; A. D., Florio; Bertolin, Cinzia; Mostacciuolo, MARIA LUISA
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
2016 Van Rheenen, Wouter; Shatunov, Aleksey; Dekker, Annelot M.; Mclaughlin, Russell L.; Diekstra, Frank P.; Pulit, Sara L.; Van Der Spek, Rick A. A.; Võsa, 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 Glava, Metka; Koritnik, Bla; Zidar, Janez; Leonardis, Lea; Grošelj, Leja Dolenc; Millecamps, Stéphanie; Salachas, François; Meininger, Vincent; De Carvalho, Mamede; Pinto, Susana; Mora, Jesus S.; Rojas García, 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; Dürr, Alexandra; Wood, Nicholas W.; Tittmann, Lukas; Lieb, Wolfgang; Franke, Andre; Rietschel, Marcella; Cichon, Sven; Nöthen, Markus M.; Amouyel, Philippe; Tzourio, Christophe; Dartigues, Jean François; 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; Hübner, Christian A.; Nigel Leigh, P.; Casale, Federico; Chio, Adriano; 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.; Jeroen Pasterkamp, R.; Lewis, Cathryn M.; Breen, Gerome; Al Chalabi, Ammar; Van Den Berg, Leonard H.; Veldink, Jan H.
Genome-wide scan supports the existence of a susceptibility locus for schizophrenia and bipolar disorder on chromosome 15q26
2007 Vazza, Giovanni; Bertolin, Cinzia; Scudellaro, E; Vettori, Andrea; Boaretto, Francesca; Rampinelli, Sabina; DE SANCTIS, G; Perini, Giulia; Peruzzi, P; Mostacciuolo, MARIA LUISA
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
2022 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; Töpf, Ana; Zaharieva, Irina T; Brady, Lauren; Hu, Ying; Lloyd, Thomas E; Klein, Andrea; Steinlin, Maja; Kuster, Alice; Mercier, Sandra; Marcorelles, Pascale; Péréon, 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 B; Quijano-Roy, Susana; Böhm, Johann; Nelson, Isabelle; Stojkovic, Tanya; Evangelista, Teresinha; Straub, Volker; Romero, Norma B; Laporte, Jocelyn; Muntoni, Francesco; Nishino, Ichizo; Tarnopolsky, Mark A; Shorter, James; Bönnemann, Carsten G; Taylor, J Paul
Multiple acyl-COA dehydrogenase deficiency in elderly carriers
2020 Macchione, F.; Salviati, L.; Bordugo, A.; Vincenzi, M.; Camilot, M.; Teofoli, F.; Pancheri, E.; Zordan, R.; Bertolin, C.; Rossi, S.; Vattemi, G.; Tonin, P.
New FIG4 gene mutations causing aggressive ALS
2018 Bertolin, C.; Querin, G.; Bozzoni, Virginia; Martinelli, I.; De Bortoli, M.; Rampazzo, A.; Gellera, C.; Pegoraro, E.; Sorarù, G.
No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype
2016 Bertolin, Cinzia; Querin, Giorgia; Da Re, E.; Sagnelli, A.; Bello, Luca; Cao, Michelangelo; Muscas, M.; Pennuto, M.; Ermani, Mario; Pegoraro, Elena; Mariotti, C.; Gellera, C.; Hanna, M. G.; Pareyson, D.; Fratta, P.; Soraru', Gianni; Pennuto, Maria
Non-neural phenotype of spinal and bulbar muscular atrophy: Results from a large cohort of Italian patients
2016 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; Mandrioli, Jessica; Galasso, Giuliana; Mazzini, Letizia; Romito, Silvia; Tonin, Paola; Scarpelli, Mauro; Ricci, Giulia; Siciliano, Gabriele; Petrucci, Antonio; Massa, Roberto; Polo, Alberto; Mariotti, Caterina; Sagnelli, Anna; Palmieri, Arianna; Briani, Chiara; Pennuto, Maria
Novel mutations in the L1CAM gene support the complexity of L1 syndrome
2010 Bertolin, Cinzia; Boaretto, Francesca; Barbon, G; Salviati, Leonardo; Lapi, E; Divizia, Mt; Garavelli, L; Occhi, Gianluca; Vazza, Giovanni; Mostacciuolo, Ml
The clinical spectrum of CASQ1-related myopathy
2018 Semplicini, C; Bertolin, C; Bello, L; Pantic, B; Guidolin, F; Vianello, S; Catapano, Francesco; Colombo, I; Moggio, M; Gavassini, Bf; Cenacchi, G; Papa, V; Previtero, Marco; Calore, C; Sorarù, G; Minervini, G; Tosatto, Sce; Stramare, R; Pegoraro, E.
TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations
2015 Pensato, Viviana; Tiloca, Cinzia; Corrado, Lucia; Bertolin, Cinzia; Sardone, Valentina; Del Bo, Roberto; Calini, Daniela; Mandrioli, Jessica; Lauria, Giuseppe; Mazzini, Letizia; Querin, Giorgia; Ceroni, Mauro; Cantello, Roberto; Corti, Stefania; Castellotti, Barbara; Soldà, Giulia; Duga, Stefano; Comi, Giacomo P.; Cereda, Cristina; Soraru', Gianni; D’Alfonso, Sandra; Taroni, Franco; Shaw, Christopher E.; Landers, John E.; Ticozzi, Nicola; Ratti, Antonia; Gellera, Cinzia; Silani, Vincenzo
Unimpaired Neuropsychological Performance and Enhanced Memory Recall in Patients with Sbma: A Large Sample Comparative Study.
2018 Marcato, S.; Kleinbub, J. R.; Querin, G.; Pick, E.; Martinelli, I.; Bertolin, C.; Cipolletta, S.; Pegoraro, E; Sorarù, G.; Palmieri, Arianna; A. (2018).,