Multiple acyl-COA dehydrogenase deficiency in elderly carriers
Macchione, Francesco, Salviati, Leonardo, Bordugo, Andrea, Vincenzi, Monica, Camilot, Marta, Teofoli, Francesca, Pancheri, Elia, Zordan, Roberta, Bertolin, Cinzia, Rossi, Silvia, Vattemi, Gaetano, Tonin, Paola
Published in Journal of neurology (01.05.2020)
Published in Journal of neurology (01.05.2020)
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The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA)
Blasi, Lorenzo, Sabbatini, Daniele, tuna, Andrea, Querin, Giorgia, Martinelli, Ilaria, Vianello, Sara, Bertolin, Cinzia, Pareyson, Davide, Pennuto, Maria, Pegoraro, Elena, Bello, Luca, Sorarù, Gianni
Published in Scientific reports (12.10.2023)
Published in Scientific reports (12.10.2023)
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TP53 DNA binding domain mutational status and rituximab-based treatment are independent prognostic factors for pediatric Burkitt lymphoma patients stratification
Martire, Gaia, Lovisa, Federica, Carraro, Elisa, Rizzato, Domenico, Cesaro, Simone, Mura, Rosa Maria, Tondo, Annalisa, Bertolin, Cinzia, Boaretto, Francesca, Salviati, Leonardo, Biffi, Alessandra, Pillon, Marta, Mussolin, Lara
Published in Haematologica (Roma) (22.02.2024)
Published in Haematologica (Roma) (22.02.2024)
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Non-Motor Symptoms in Primary Familial Brain Calcification
Bonato, Giulia, Cimino, Paola, Pistonesi, Francesca, Salviati, Leonardo, Bertolin, Cinzia, Carecchio, Miryam
Published in Journal of clinical medicine (30.06.2024)
Published in Journal of clinical medicine (30.06.2024)
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Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients
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, Sorarù, Gianni
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2016)
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2016)
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Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E
Semplicini, Claudio, Vissing, John, Dahlqvist, Julia R, Stojkovic, Tanya, Bello, Luca, Witting, Nanna, Duno, Morten, Leturcq, France, Bertolin, Cinzia, D'Ambrosio, Paola, Eymard, Bruno, Angelini, Corrado, Politano, Luisa, Laforêt, Pascal, Pegoraro, Elena
Published in Neurology (28.04.2015)
Published in Neurology (28.04.2015)
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Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice
Devoy, Anny, Kalmar, Bernadett, Stewart, Michelle, Park, Heesoon, Burke, Beverley, Noy, Suzanna J, Redhead, Yushi, Humphrey, Jack, Lo, Kitty, Jaeger, Julian, Mejia Maza, Alan, Sivakumar, Prasanth, Bertolin, Cinzia, Soraru, Gianni, Plagnol, Vincent, Greensmith, Linda, Acevedo Arozena, Abraham, Isaacs, Adrian M, Davies, Benjamin, Fratta, Pietro, Fisher, Elizabeth M C
Published in Brain (London, England : 1878) (01.11.2017)
Published in Brain (London, England : 1878) (01.11.2017)
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Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia
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, Sorarù, Gianni, Comi, Giacomo P, D'Alfonso, Sandra, Gellera, Cinzia, Ratti, Antonia, Landers, John E, Silani, Vincenzo
Published in Neurobiology of aging (01.05.2013)
Published in Neurobiology of aging (01.05.2013)
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Analysis of complete mitochondrial genomes of patients with schizophrenia and bipolar disorder
Bertolin, Cinzia, Magri, Chiara, Barlati, Sergio, Vettori, Andrea, Perini, Giulia Ida, Peruzzi, Pio, Mostacciuolo, Maria Luisa, Vazza, Giovanni
Published in Journal of human genetics (01.12.2011)
Published in Journal of human genetics (01.12.2011)
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TP53 DNA binding domain mutational status and rituximabbased treatment are independent prognostic factors for pediatric Burkitt lymphoma patients stratification
Martire, Gaia, Lovisa, Federica, Carraro, Elisa, Rizzato, Domenico, Cesaro, Simone, Mura, Rosa Maria, Tondo, Annalisa, Bertolin, Cinzia, Boaretto, Francesca, Salviati, Leonardo, Biffi, Alessandra, Pillon, Marta, Mussolin, Lara
Published in Haematologica (Roma) (01.09.2024)
Published in Haematologica (Roma) (01.09.2024)
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Genetic mutations in Parkinson’s disease: screening of a selected population from North-Eastern Italy
Bonato, Giulia, Antonini, Angelo, Pistonesi, Francesca, Campagnolo, Marta, Guerra, Andrea, Biundo, Roberta, Pilleri, Manuela, Bertolin, Cinzia, Salviati, Leonardo, Carecchio, Miryam
Published in Neurological sciences (22.07.2024)
Published in Neurological sciences (22.07.2024)
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Journal Article
Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice
Devoy, Anny, Kalmar, Bernadett, Stewart, Michelle, Park, Heesoon, Burke, Beverley, Noy, Suzanna J, Redhead, Yushi, Humphrey, Jack, Lo, Kitty, Jaeger, Julian, Mejia Maza, Alan, Sivakumar, Prasanth, Bertolin, Cinzia, Soraru, Gianni, Plagnol, Vincent, Greensmith, Linda, Acevedo Arozena, Abraham, Isaacs, Adrian M, Davies, Benjamin, Fratta, Pietro, Fisher, Elizabeth M C
Published in Brain (London, England : 1878) (01.11.2017)
Published in Brain (London, England : 1878) (01.11.2017)
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Safety and efficacy of edaravone compared to historical controls in patients with amyotrophic lateral sclerosis from North-Eastern Italy
Fortuna, Andrea, Gizzi, Matteo, Bello, Luca, Martinelli, Ilaria, Bertolin, Cinzia, Pegoraro, Elena, Corbetta, Maurizio, Sorarù, Gianni
Published in Journal of the neurological sciences (15.09.2019)
Published in Journal of the neurological sciences (15.09.2019)
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Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant
Sorrentino, Ugo, Agosto, Caterina, Benini, Franca, Bertolin, Cinzia, Cassina, Matteo, Bonadies, Luca, Caroppo, Francesca, Fortina, Anna Belloni, Salviati, Leonardo
Published in Clinical genetics (01.11.2023)
Published in Clinical genetics (01.11.2023)
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Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS
Smith, Bradley N., Ticozzi, Nicola, Fallini, Claudia, Gkazi, Athina Soragia, Topp, Simon, Kenna, Kevin P., Scotter, Emma L., Kost, Jason, Keagle, Pamela, Miller, Jack W., Calini, Daniela, Vance, Caroline, Danielson, Eric W., Troakes, Claire, Tiloca, Cinzia, Al-Sarraj, Safa, Lewis, Elizabeth A., King, Andrew, Colombrita, Claudia, Pensato, Viviana, Castellotti, Barbara, de Belleroche, Jacqueline, Baas, Frank, ten Asbroek, Anneloor LMA, Sapp, Peter C., McKenna-Yasek, Diane, McLaughlin, Russell L., Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesús, Muñoz-Blanco, José Luis, Simpson, Michael, D’Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P., Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, van Rheenen, Wouter, Diekstra, Frank P., Lauria, Giuseppe, Duga, Stefano, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Sorarù, Gianni, Morrison, Karen E., Williams, Kelly L., Nicholson, Garth A., Blair, Ian P., Dion, Patrick A., Leblond, Claire S., Rouleau, Guy A., Hardiman, Orla, Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Pall, Hardev, Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Taroni, Franco, García-Redondo, Alberto, Wu, Zheyang, Glass, Jonathan D., Gellera, Cinzia, Ratti, Antonia, Brown, Robert H., Silani, Vincenzo, Shaw, Christopher E., Landers, John E.
Published in Neuron (Cambridge, Mass.) (22.10.2014)
Published in Neuron (Cambridge, Mass.) (22.10.2014)
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Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy
Lombardi, Vittoria, Querin, Giorgia, Ziff, Oliver J, Zampedri, Luca, Martinelli, Ilaria, Heller, Carolin, Foiani, Martha, Bertolin, Cinzia, Lu, Ching-Hua, Malik, Bilal, Allen, Kezia, Rinaldi, Carlo, Zetterberg, Henrik, Heslegrave, Amanda, Greensmith, Linda, Hanna, Michael, Soraru, Gianni, Malaspina, Andrea, Fratta, Pietro
Published in Neurology (12.03.2019)
Published in Neurology (12.03.2019)
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Brain MRI shows white matter sparing in Kennedy's disease and slow‐progressing lower motor neuron disease
Spinelli, Edoardo G., Agosta, Federica, Ferraro, Pilar M., Querin, Giorgia, Riva, Nilo, Bertolin, Cinzia, Martinelli, Ilaria, Lunetta, Christian, Fontana, Andrea, Sorarù, Gianni, Filippi, Massimo
Published in Human brain mapping (01.07.2019)
Published in Human brain mapping (01.07.2019)
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Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
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
Published in Nature communications (28.04.2022)
Published in Nature communications (28.04.2022)
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