Cognitive impairment across ALS clinical stages in a population-based cohort
Chiò, Adriano, Moglia, Cristina, Canosa, Antonio, Manera, Umberto, Vasta, Rosario, Brunetti, Maura, Barberis, Marco, Corrado, Lucia, D'Alfonso, Sandra, Bersano, Enrica, Sarnelli, Maria Francesca, Solara, Valentina, Zucchetti, Jean Pierre, Peotta, Laura, Iazzolino, Barbara, Mazzini, Letizia, Mora, Gabriele, Calvo, Andrea
Published in Neurology (03.09.2019)
Published in Neurology (03.09.2019)
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Regional spreading of symptoms at diagnosis as a prognostic marker in amyotrophic lateral sclerosis: a population-based study
Manera, Umberto, Calvo, Andrea, Daviddi, Margherita, Canosa, Antonio, Vasta, Rosario, Torrieri, Maria Claudia, Grassano, Maurizio, Brunetti, Maura, D'Alfonso, Sandra, Corrado, Lucia, De Marchi, Fabiola, Moglia, Cristina, D'Ovidio, Fabrizio, Mora, Gabriele, Mazzini, Letizia, Chiò, Adriano
Published in Journal of neurology, neurosurgery and psychiatry (01.03.2020)
Published in Journal of neurology, neurosurgery and psychiatry (01.03.2020)
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Author Correction: Next Generation Sequencing of Pooled Samples: Guideline for Variants’ Filtering
Anand, Santosh, Mangano, Eleonora, Barizzone, Nadia, Bordoni, Roberta, Sorosina, Melissa, Clarelli, Ferdinando, Corrado, Lucia, Martinelli Boneschi, Filippo, D’Alfonso, Sandra, De Bellis, Gianluca
Published in Scientific reports (23.03.2020)
Published in Scientific reports (23.03.2020)
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Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort
Grassano, Maurizio, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Sbaiz, Luca, Canosa, Antonio, Manera, Umberto, Vasta, Rosario, Corrado, Lucia, D'Alfonso, Sandra, Mazzini, Letizia, Scholz, Sonja W, Dalgard, Clifton, Ding, Jinhui, Gibbs, Raphael J, Chia, Ruth, Traynor, Bryan J, Chiò, Adriano
Published in Neurology (26.01.2021)
Published in Neurology (26.01.2021)
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Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series
Magistrelli, Luca, Croce, Roberta, De Marchi, Fabiola, Basagni, Chiara, Carecchio, Miryam, Nasuelli, Nicola, Cantello, Roberto, Invernizzi, Federica, Garavaglia, Barbara, Comi, Cristoforo, Mazzini, Letizia, D’Alfonso, Sandra, Corrado, Lucia
Published in Neurogenetics (01.03.2021)
Published in Neurogenetics (01.03.2021)
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Validation of an Algorithm to Detect Multiple Sclerosis Cases in Administrative Health Databases in Piedmont (Italy): An Application to the Estimate of Prevalence by Age and Urbanization Level
Gnavi, Roberto, Picariello, Roberta, Alboini, Paolo Emilio, Cavalla, Paola, Grasso, Maria Federica, Richiardi, Paola, Bertolotto, Antonio, Barizzone, Nadia, Cantello, Roberto, Leone, Maurizio Angelo, D'Alfonso, Sandra, Golini, Natalia
Published in Neuroepidemiology (01.04.2021)
Published in Neuroepidemiology (01.04.2021)
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Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus
Kozyrev, Sergey V, Wojcik, Jerome, Barizzone, Nadia, González-Escribano, Maria Francisca, Zaghlool, Ammar, Sturfelt, Gunnar, Pons-Estel, Bernardo A, Svenungsson, Elisabet, Junker, Peter, Sanchez, Elena, Martin, Javier, Jönsen, Andreas, Gutierrez, Carmen, Suarez, Ana, Linga Reddy, M V Prasad, Abelson, Anna-Karin, Gunnarsson, Iva, Laustrup, Helle, Truedsson, Lennart, D'Alfonso, Sandra, Abderrahim, Hadi, Alarcón-Riquelme, Marta E, Witte, Torsten, Danieli, Maria Giovanna
Published in Nature genetics (01.02.2008)
Published in Nature genetics (01.02.2008)
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A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility
Sorosina, Melissa, Barizzone, Nadia, Clarelli, Ferdinando, Anand, Santosh, Lupoli, Sara, Salvi, Erika, Mangano, Eleonora, Bordoni, Roberta, Roostaei, Tina, Mascia, Elisabetta, Zuccalà, Miriam, Vecchio, Domizia, Cavalla, Paola, Santoro, Silvia, Ferrè, Laura, Zollo, Alen, Barlassina, Cristina, Cusi, Daniele, Martinelli, Vittorio, Comi, Giancarlo, Leone, Maurizio, Filippi, Massimo, Patsopoulos, Nikolaos A., De Jager, Philip L., De Bellis, Gianluca, Esposito, Federica, D’Alfonso, Sandra, Martinelli Boneschi, Filippo
Published in Journal of neurology (01.08.2022)
Published in Journal of neurology (01.08.2022)
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The first case of the TARDBP p.G294V mutation in a homozygous state: is a single pathogenic allele sufficient to cause ALS?
Corrado, Lucia, Pensato, Viviana, Croce, Roberta, Di Pierro, Alice, Mellone, Simona, Dalla Bella, Eleonora, Salsano, Ettore, Paraboschi, Elvezia Maria, Giordano, Mara, Saraceno, Massimo, Mazzini, Letizia, Gellera, Cinzia, D'Alfonso, Sandra
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (02.04.2020)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (02.04.2020)
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Correction to: A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility
Sorosina, Melissa, Barizzone, Nadia, Clarelli, Ferdinando, Anand, Santosh, Lupoli, Sara, Salvi, Erika, Mangano, Eleonora, Bordoni, Roberta, Roostaei, Tina, Mascia, Elisabetta, Zuccalà, Miriam, Vecchio, Domizia, Cavalla, Paola, Santoro, Silvia, Ferrè, Laura, Zollo, Alen, Barlassina, Cristina, Cusi, Daniele, Martinelli, Vittorio, Comi, Giancarlo, Leone, Maurizio, Filippi, Massimo, Patsopoulos, Nikolaos A., De Jager, Philip L., De Bellis, Gianluca, Esposito, Federica, D’Alfonso, Sandra, Martinelli Boneschi, Filippo
Published in Journal of neurology (01.08.2022)
Published in Journal of neurology (01.08.2022)
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TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations
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, Sorarù, Gianni, D’Alfonso, Sandra, Taroni, Franco, Shaw, Christopher E., Landers, John E., Ticozzi, Nicola, Ratti, Antonia, Gellera, Cinzia, Silani, Vincenzo
Published in Journal of neurology (01.05.2015)
Published in Journal of neurology (01.05.2015)
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Clinical relevance of single-subject brain metabolism patterns in amyotrophic lateral sclerosis mutation carriers
Tondo, Giacomo, Mazzini, Letizia, Caminiti, Silvia Paola, Sarnelli, Maria Francesca, Corrado, Lucia, Matheoud, Roberta, D'Alfonso, Sandra, Cantello, Roberto, Sacchetti, Gian Mauro, Perani, Daniela, Comi, Cristoforo, De Marchi, Fabiola
Published in NeuroImage clinical (01.01.2022)
Published in NeuroImage clinical (01.01.2022)
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C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect
Ratti, Antonia, Corrado, Lucia, Castellotti, Barbara, Del Bo, Roberto, Fogh, Isabella, Cereda, Cristina, Tiloca, Cinzia, D'Ascenzo, Carla, Bagarotti, Alessandra, Pensato, Viviana, Ranieri, Michela, Gagliardi, Stella, Calini, Daniela, Mazzini, Letizia, Taroni, Franco, Corti, Stefania, Ceroni, Mauro, Oggioni, Gaia D, Lin, Kuang, Powell, John F, Sorarù, Gianni, Ticozzi, Nicola, Comi, Giacomo P, D'Alfonso, Sandra, Gellera, Cinzia, Silani, Vincenzo
Published in Neurobiology of aging (01.10.2012)
Published in Neurobiology of aging (01.10.2012)
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Inverse correlation of genetic risk score with age at onset in bout-onset and progressive-onset multiple sclerosis
Sorosina, Melissa, Esposito, Federica, Guaschino, Clara, Clarelli, Ferdinando, Barizzone, Nadia, Osiceanu, Ana Maria, Brambilla, Paola, Mascia, Elisabetta, Cavalla, Paola, Gallo, Paolo, Martinelli, Vittorio, Leone, Maurizio, Comi, Giancarlo, D’Alfonso, Sandra, Martinelli Boneschi, Filippo
Published in Multiple sclerosis (01.10.2015)
Published in Multiple sclerosis (01.10.2015)
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Polymorphisms in the genes coding for iron binding and transporting proteins are associated with disability, severity, and early progression in multiple sclerosis
Gemmati, Donato, Zeri, Giulia, Orioli, Elisa, De Gaetano, Francesca E, Salvi, Fabrizio, Bartolomei, Ilaria, D'Alfonso, Sandra, Dall'osso, Claudia, Leone, Maurizio A, Singh, Ajay V, Asselta, Rosanna, Zamboni, Paolo
Published in BMC genetics (10.08.2012)
Published in BMC genetics (10.08.2012)
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Generation of an induced pluripotent stem cell line, CSSi011-A (6534), from an Amyotrophic lateral sclerosis patient with heterozygous L145F mutation in SOD1 gene
D'Anzi, Angela, Altieri, Filomena, Perciballi, Elisa, Ferrari, Daniela, Bernardini, Laura, Goldoni, Marina, Mazzini, Letizia, De Marchi, Fabiola, Di Pierro, Alice, D'Alfonso, Sandra, Gelati, Maurizio, Vescovi, Angelo Luigi, Rosati, Jessica
Published in Stem cell research (01.08.2020)
Published in Stem cell research (01.08.2020)
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A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus
Orrú, Valeria, Tsai, Sophia J., Rueda, Blanca, Fiorillo, Edoardo, Stanford, Stephanie M., Dasgupta, Jhimli, Hartiala, Jaana, Zhao, Lei, Ortego-Centeno, Norberto, D’Alfonso, Sandra, Arnett, Frank C., Wu, Hui, Gonzalez-Gay, Miguel A., Tsao, Betty P., Pons-Estel, Bernardo, Alarcon-Riquelme, Marta E., He, Yantao, Zhang, Zhong-Yin, Allayee, Hooman, Chen, Xiaojiang S., Martin, Javier, Bottini, Nunzio
Published in Human molecular genetics (01.02.2009)
Published in Human molecular genetics (01.02.2009)
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Rare Variants in the TREX1 Gene and Susceptibility to Autoimmune Diseases
D'Alfonso, Sandra, Scorza, Raffaella, Marchini, Maurizio, Godi, Michela, Mellone, Simona, Monti, Sara, Barizzone, Nadia, Danieli, Maria Giovanna
Published in BioMed research international (01.01.2013)
Published in BioMed research international (01.01.2013)
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Analysis of hnRNPA1 , A2/B1 , and A3 genes in patients with amyotrophic lateral sclerosis
Calini, Daniela, Corrado, Lucia, Del Bo, Roberto, Gagliardi, Stella, Pensato, Viviana, Verde, Federico, Corti, Stefania, Mazzini, Letizia, Milani, Pamela, Castellotti, Barbara, Bertolin, Cinzia, Sorarù, Gianni, Cereda, Cristina, Comi, Giacomo P, D'Alfonso, Sandra, Gellera, Cinzia, Ticozzi, Nicola, Landers, John E, Ratti, Antonia, Silani, Vincenzo
Published in Neurobiology of aging (01.11.2013)
Published in Neurobiology of aging (01.11.2013)
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No association of DPP6 with amyotrophic lateral sclerosis in an Italian population
Fogh, Isabella, D’Alfonso, Sandra, Gellera, Cinzia, Ratti, Antonia, Cereda, Cristina, Penco, Silvana, Corrado, Lucia, Sorarù, Gianni, Castellotti, Barbara, Tiloca, Cinzia, Gagliardi, Stella, Cozzi, Lorena, Lupton, Michelle K, Ticozzi, Nicola, Mazzini, Letizia, Shaw, Chris E, Al-Chalabi, Ammar, Powell, John, Silani, Vincenzo
Published in Neurobiology of aging (01.05.2011)
Published in Neurobiology of aging (01.05.2011)
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