Frataxin gene editing rescues Friedreich’s ataxia pathology in dorsal root ganglia organoid-derived sensory neurons
Mazzara, Pietro Giuseppe, Muggeo, Sharon, Luoni, Mirko, Massimino, Luca, Zaghi, Mattia, Valverde, Parisa Tajalli-Tehrani, Brusco, Simone, Marzi, Matteo Jacopo, Palma, Cecilia, Colasante, Gaia, Iannielli, Angelo, Paulis, Marianna, Cordiglieri, Chiara, Giannelli, Serena Gea, Podini, Paola, Gellera, Cinzia, Taroni, Franco, Nicassio, Francesco, Rasponi, Marco, Broccoli, Vania
Published in Nature communications (21.08.2020)
Published in Nature communications (21.08.2020)
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NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
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, Keagle, Pamela, Shatunov, Aleksey, Sproviero, William, Smith, Bradley N, van Es, Michael A, Topp, 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, Muñoz-Blanco, José Luis, 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-Pérez, Jesús, García-Redondo, Alberto, Van Damme, Phillip, Robberecht, Wim, Chio, Adriano, Gellera, Cinzia, Drepper, Carsten, Sendtner, Michael, Ratti, Antonia, Glass, Jonathan D, Mora, Jesús S, Basak, Nazli A, Hardiman, Orla, Ludolph, Albert C, Andersen, Peter M, Weishaupt, Jochen H, Brown, Robert H, Al-Chalabi, Ammar, Silani, Vincenzo, Shaw, Christopher E, van den Berg, Leonard H, Veldink, Jan H, Landers, John E
Published in Nature genetics (01.09.2016)
Published in Nature genetics (01.09.2016)
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Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48
Magri, Stefania, Nanetti, Lorenzo, Gellera, Cinzia, Sarto, Elisa, Rizzo, Elena, Mongelli, Alessia, Ricci, Benedetta, Fancellu, Roberto, Sambati, Luisa, Cortelli, Pietro, Brusco, Alfredo, Bruzzone, Maria Grazia, Mariotti, Caterina, Di Bella, Daniela, Taroni, Franco
Published in Genetics in medicine (01.01.2022)
Published in Genetics in medicine (01.01.2022)
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Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
Wu, Chi-Hong, Fallini, Claudia, Ticozzi, Nicola, Keagle, Pamela J., Sapp, Peter C., Piotrowska, Katarzyna, Lowe, Patrick, Koppers, Max, McKenna-Yasek, Diane, Baron, Desiree M., Kost, Jason E., Gonzalez-Perez, Paloma, Fox, Andrew D., Adams, Jenni, Taroni, Franco, Tiloca, Cinzia, Leclerc, Ashley Lyn, Chafe, Shawn C., Mangroo, Dev, Moore, Melissa J., Zitzewitz, Jill A., Xu, Zuo-Shang, van den Berg, Leonard H., Glass, Jonathan D., Siciliano, Gabriele, Cirulli, Elizabeth T., Goldstein, David B., Salachas, Francois, Meininger, Vincent, Rossoll, Wilfried, Ratti, Antonia, Gellera, Cinzia, Bosco, Daryl A., Bassell, Gary J., Silani, Vincenzo, Drory, Vivian E., Brown Jr, Robert H., Landers, John E.
Published in Nature (London) (23.08.2012)
Published in Nature (London) (23.08.2012)
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CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
Williams, Kelly L., Topp, Simon, Yang, Shu, Smith, Bradley, Fifita, Jennifer A., Warraich, Sadaf T., Zhang, Katharine Y., Farrawell, Natalie, Vance, Caroline, Hu, Xun, Chesi, Alessandra, Leblond, Claire S., Lee, Albert, Rayner, Stephanie L., Sundaramoorthy, Vinod, Dobson-Stone, Carol, Molloy, Mark P., van Blitterswijk, Marka, Dickson, Dennis W., Petersen, Ronald C., Graff-Radford, Neill R., Boeve, Bradley F., Murray, Melissa E., Pottier, Cyril, Don, Emily, Winnick, Claire, McCann, Emily P., Hogan, Alison, Daoud, Hussein, Levert, Annie, Dion, Patrick A., Mitsui, Jun, Ishiura, Hiroyuki, Takahashi, Yuji, Goto, Jun, Kost, Jason, Gellera, Cinzia, Gkazi, Athina Soragia, Miller, Jack, Stockton, Joanne, Brooks, William S., Boundy, Karyn, Polak, Meraida, Muñoz-Blanco, José Luis, Esteban-Pérez, Jesús, Rábano, Alberto, Hardiman, Orla, Morrison, Karen E., Ticozzi, Nicola, Silani, Vincenzo, de Belleroche, Jacqueline, Glass, Jonathan D., Kwok, John B. J., Guillemin, Gilles J., Chung, Roger S., Tsuji, Shoji, Brown, Robert H., García-Redondo, Alberto, Rademakers, Rosa, Landers, John E., Gitler, Aaron D., Rouleau, Guy A., Cole, Nicholas J., Yerbury, Justin J., Atkin, Julie D., Shaw, Christopher E., Nicholson, Garth A., Blair, Ian P.
Published in Nature communications (15.04.2016)
Published in Nature communications (15.04.2016)
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G507D mutation in FUS gene causes familial amyotrophic lateral sclerosis with a specific genotype-phenotype correlation
Martinelli, Ilaria, Zucchi, Elisabetta, Pensato, Viviana, Gellera, Cinzia, Traynor, Bryan J, Gianferrari, Giulia, Chiò, Adriano, Mandrioli, Jessica
Published in Neurobiology of aging (01.10.2022)
Published in Neurobiology of aging (01.10.2022)
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Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
Taroni, Franco, Di Bella, Daniela, Lazzaro, Federico, Brusco, Alfredo, Plumari, Massimo, Battaglia, Giorgio, Pastore, Annalisa, Finardi, Adele, Cagnoli, Claudia, Tempia, Filippo, Frontali, Marina, Veneziano, Liana, Sacco, Tiziana, Boda, Enrica, Brussino, Alessandro, Bonn, Florian, Castellotti, Barbara, Baratta, Silvia, Mariotti, Caterina, Gellera, Cinzia, Fracasso, Valentina, Magri, Stefania, Langer, Thomas, Plevani, Paolo, Di Donato, Stefano, Muzi-Falconi, Marco
Published in Nature genetics (01.04.2010)
Published in Nature genetics (01.04.2010)
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Asymptomatic adrenoleukodystrophy in elderly males
Benzoni, Chiara, Fenu, Silvia, Pensato, Viviana, Mauro, Elena, Gellera, Cinzia, Pareyson, Davide, Salsano, Ettore
Published in Journal of neurology (01.06.2020)
Published in Journal of neurology (01.06.2020)
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A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability
Bonzanni, Mattia, DiFrancesco, Jacopo C., Milanesi, Raffaella, Campostrini, Giulia, Castellotti, Barbara, Bucchi, Annalisa, Baruscotti, Mirko, Ferrarese, Carlo, Franceschetti, Silvana, Canafoglia, Laura, Ragona, Francesca, Freri, Elena, Labate, Angelo, Gambardella, Antonio, Costa, Cinzia, Rivolta, Ilaria, Gellera, Cinzia, Granata, Tiziana, Barbuti, Andrea, DiFrancesco, Dario
Published in Neurobiology of disease (01.10.2018)
Published in Neurobiology of disease (01.10.2018)
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Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease
Hirst, Jennifer, Edgar, James R, Esteves, Typhaine, Darios, Frédéric, Madeo, Marianna, Chang, Jaerak, Roda, Ricardo H, Dürr, Alexandra, Anheim, Mathieu, Gellera, Cinzia, Li, Jun, Züchner, Stephan, Mariotti, Caterina, Stevanin, Giovanni, Blackstone, Craig, Kruer, Michael C, Robinson, Margaret S
Published in Human molecular genetics (01.09.2015)
Published in Human molecular genetics (01.09.2015)
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Late-onset Huntington’s disease with 40–42 CAG expansion
Capiluppi, Elisa, Romano, Luca, Rebora, Paola, Nanetti, Lorenzo, Castaldo, Anna, Gellera, Cinzia, Mariotti, Caterina, Macerollo, Antonella, Cislaghi, M. Giuliana
Published in Neurological sciences (01.04.2020)
Published in Neurological sciences (01.04.2020)
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The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder
Smith, Bradley N, Newhouse, Stephen, Shatunov, Aleksey, Vance, Caroline, Topp, Simon, Johnson, Lauren, Miller, Jack, Lee, Younbok, Troakes, Claire, Scott, Kirsten M, Jones, Ashley, Gray, Ian, Wright, Jamie, Hortobágyi, Tibor, Al-Sarraj, Safa, Rogelj, Boris, Powell, John, Lupton, Michelle, Lovestone, Simon, Sapp, Peter C, Weber, Markus, Nestor, Peter J, Schelhaas, Helenius J, Asbroek, Anneloor Alm Ten, Silani, Vincenzo, Gellera, Cinzia, Taroni, Franco, Ticozzi, Nicola, Van den Berg, Leonard, Veldink, Jan, Van Damme, Phillip, Robberecht, Wim, Shaw, Pamela J, Kirby, Janine, Pall, Hardev, Morrison, Karen E, Morris, Alex, de Belleroche, Jacqueline, Vianney de Jong, J M B, Baas, Frank, Andersen, Peter M, Landers, John, Brown, Jr, Robert H, Weale, Michael E, Al-Chalabi, Ammar, Shaw, Christopher E
Published in European journal of human genetics : EJHG (01.01.2013)
Published in European journal of human genetics : EJHG (01.01.2013)
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Identification of a cytokine profile in serum and cerebrospinal fluid of pediatric and adult spinal muscular atrophy patients and its modulation upon nusinersen treatment
Bonanno, Silvia, Cavalcante, Paola, Salvi, Erika, Giagnorio, Eleonora, Malacarne, Claudia, Cattaneo, Marco, Andreetta, Francesca, Venerando, Anna, Pensato, Viviana, Gellera, Cinzia, Zanin, Riccardo, Arnoldi, Maria Teresa, Dosi, Claudia, Mantegazza, Renato, Masson, Riccardo, Maggi, Lorenzo, Marcuzzo, Stefania
Published in Frontiers in cellular neuroscience (11.08.2022)
Published in Frontiers in cellular neuroscience (11.08.2022)
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MiR-146a in ALS: Contribution to Early Peripheral Nerve Degeneration and Relevance as Disease Biomarker
Giagnorio, Eleonora, Malacarne, Claudia, Cavalcante, Paola, Scandiffio, Letizia, Cattaneo, Marco, Pensato, Viviana, Gellera, Cinzia, Riva, Nilo, Quattrini, Angelo, Dalla Bella, Eleonora, Lauria, Giuseppe, Mantegazza, Renato, Bonanno, Silvia, Marcuzzo, Stefania
Published in International journal of molecular sciences (27.02.2023)
Published in International journal of molecular sciences (27.02.2023)
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The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington's disease patients demonstrates mutation related enhanced lysosomal activity
Camnasio, Stefano, Carri, Alessia Delli, Lombardo, Angelo, Grad, Iwona, Mariotti, Caterina, Castucci, Alessia, Rozell, Björn, Riso, Pietro Lo, Castiglioni, Valentina, Zuccato, Chiara, Rochon, Christelle, Takashima, Yasuhiro, Diaferia, Giuseppe, Biunno, Ida, Gellera, Cinzia, Jaconi, Marisa, Smith, Austin, Hovatta, Outi, Naldini, Luigi, Di Donato, Stefano, Feki, Anis, Cattaneo, Elena
Published in Neurobiology of disease (01.04.2012)
Published in Neurobiology of disease (01.04.2012)
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Case report: Marked electroclinical improvement by fluoxetine treatment in a patient with KCNT1 -related drug-resistant focal epilepsy
Mosca, Ilaria, Freri, Elena, Ambrosino, Paolo, Belperio, Giorgio, Granata, Tiziana, Canafoglia, Laura, Ragona, Francesca, Solazzi, Roberta, Filareto, Ilaria, Castellotti, Barbara, Messina, Giuliana, Gellera, Cinzia, DiFrancesco, Jacopo C, Soldovieri, Maria Virginia, Taglialatela, Maurizio
Published in Frontiers in cellular neuroscience (04.04.2024)
Published in Frontiers in cellular neuroscience (04.04.2024)
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Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis
Al Khleifat, Ahmad, Iacoangeli, Alfredo, van Vugt, Joke J. F. A., Bowles, Harry, Moisse, Matthieu, Zwamborn, Ramona A. J., van der Spek, Rick A. A., Shatunov, Aleksey, Cooper-Knock, Johnathan, Topp, Simon, Byrne, Ross, Gellera, Cinzia, López, Victoria, Jones, Ashley R., Opie-Martin, Sarah, Vural, Atay, Campos, Yolanda, van Rheenen, Wouter, Kenna, Brendan, Van Eijk, Kristel R., Kenna, Kevin, Weber, Markus, Smith, Bradley, Fogh, Isabella, Silani, Vincenzo, Morrison, Karen E., Dobson, Richard, van Es, Michael A., McLaughlin, Russell L., Vourc’h, Patrick, Chio, Adriano, Corcia, Philippe, de Carvalho, Mamede, Gotkine, Marc, Panades, Monica P., Mora, Jesus S., Shaw, Pamela J., Landers, John E., Glass, Jonathan D., Shaw, Christopher E., Basak, Nazli, Hardiman, Orla, Robberecht, Wim, Van Damme, Philip, van den Berg, Leonard H., Veldink, Jan H., Al-Chalabi, Ammar
Published in Npj genomic medicine (28.01.2022)
Published in Npj genomic medicine (28.01.2022)
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Hypomyelinating leukodystrophies in adults: Clinical and genetic features
Di Bella, Daniela, Magri, Stefania, Benzoni, Chiara, Farina, Laura, Maccagnano, Carmelo, Sarto, Elisa, Moscatelli, Marco, Baratta, Silvia, Ciano, Claudia, Piacentini, Sylvie H. M. J., Draghi, Lara, Mauro, Elena, Pareyson, Davide, Gellera, Cinzia, Taroni, Franco, Salsano, Ettore
Published in European journal of neurology (01.03.2021)
Published in European journal of neurology (01.03.2021)
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HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature
DiFrancesco, Jacopo C., Castellotti, Barbara, Milanesi, Raffaella, Ragona, Francesca, Freri, Elena, Canafoglia, Laura, Franceschetti, Silvana, Ferrarese, Carlo, Magri, Stefania, Taroni, Franco, Costa, Cinzia, Labate, Angelo, Gambardella, Antonio, Solazzi, Roberta, Binda, Anna, Rivolta, Ilaria, Di Gennaro, Giancarlo, Casciato, Sara, D’Incerti, Ludovico, Barbuti, Andrea, DiFrancesco, Dario, Granata, Tiziana, Gellera, Cinzia
Published in Epilepsy research (01.07.2019)
Published in Epilepsy research (01.07.2019)
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Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients
Malacarne, Claudia, Galbiati, Mariarita, Giagnorio, Eleonora, Cavalcante, Paola, Salerno, Franco, Andreetta, Francesca, Cagnoli, Cinza, Taiana, Michela, Nizzardo, Monica, Corti, Stefania, Pensato, Viviana, Venerando, Anna, Gellera, Cinzia, Fenu, Silvia, Pareyson, Davide, Masson, Riccardo, Maggi, Lorenzo, Dalla Bella, Eleonora, Lauria, Giuseppe, Mantegazza, Renato, Bernasconi, Pia, Poletti, Angelo, Bonanno, Silvia, Marcuzzo, Stefania
Published in International journal of molecular sciences (26.05.2021)
Published in International journal of molecular sciences (26.05.2021)
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