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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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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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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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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Duplication of exons 15 and 16 in Matrin-3: a phenotype bridging amyotrophic lateral sclerosis and immune-mediated disorders
Caputo, Maria, Zucchi, Elisabetta, Martinelli, Ilaria, Gianferrari, Giulia, Simonini, Cecilia, Amedei, Amedeo, Niccolai, Elena, Gellera, Cinzia, Pensato, Viviana, Mandrioli, Jessica
Published in Neurological sciences (01.02.2022)
Published in Neurological sciences (01.02.2022)
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Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders
Cozzi, Marta, Magri, Stefania, Tedesco, Barbara, Patelli, Guglielmo, Ferrari, Veronica, Casarotto, Elena, Chierichetti, Marta, Pramaggiore, Paola, Cornaggia, Laura, Piccolella, Margherita, Galbiati, Mariarita, Rusmini, Paola, Crippa, Valeria, Mandrioli, Jessica, Pareyson, Davide, Pisciotta, Chiara, D’Arrigo, Stefano, Ratti, Antonia, Nanetti, Lorenzo, Mariotti, Caterina, Sarto, Elisa, Pensato, Viviana, Gellera, Cinzia, Di Bella, Daniela, Cristofani, Riccardo M., Taroni, Franco, Poletti, Angelo
Published in Cell death & disease (27.09.2024)
Published in Cell death & disease (27.09.2024)
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Analysis of miRNA rare variants in amyotrophic lateral sclerosis and in silico prediction of their biological effects
Brusati, Alberto, Ratti, Antonia, Pensato, Viviana, Peverelli, Silvia, Gentilini, Davide, Dalla Bella, Eleonora, Sorce, Marta Nice, Meneri, Megi, Gagliardi, Delia, Corti, Stefania, Gellera, Cinzia, Lauria Pinter, Giuseppe, Ticozzi, Nicola, Silani, Vincenzo
Published in Frontiers in genetics (07.12.2022)
Published in Frontiers in genetics (07.12.2022)
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Optical coherence tomography in adult adrenoleukodystrophy: a cross-sectional and longitudinal study
Bianchi-Marzoli, Stefania, Fenu, Silvia, Melzi, Lisa, Benzoni, Chiara, Antonazzo, Filippo, Tomas Roldan, Eugenia, Farina, Laura, Tremolada, Gemma, Mauro, Elena, Pensato, Viviana, Gellera, Cinzia, Pareyson, Davide, Salsano, Ettore
Published in Neurological sciences (2021)
Published in Neurological sciences (2021)
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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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Cognitive Syndromes and C9orf72 Mutation Are Not Related to Cerebellar Degeneration in Amyotrophic Lateral Sclerosis
Consonni, Monica, Dalla Bella, Eleonora, Nigri, Anna, Pinardi, Chiara, Demichelis, Greta, Porcu, Luca, Gellera, Cinzia, Pensato, Viviana, Cappa, Stefano F, Bruzzone, Maria Grazia, Lauria, Giuseppe, Ferraro, Stefania
Published in Frontiers in neuroscience (10.05.2019)
Published in Frontiers in neuroscience (10.05.2019)
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Cortical markers of cognitive syndromes in amyotrophic lateral sclerosis
Consonni, Monica, Contarino, Valeria E., Catricalà, Eleonora, Dalla Bella, Eleonora, Pensato, Viviana, Gellera, Cinzia, Lauria, Giuseppe, Cappa, Stefano F.
Published in NeuroImage clinical (01.01.2018)
Published in NeuroImage clinical (01.01.2018)
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Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN , VCP , and SQSTM1 Variants Account for 3% of Rare Genetic Forms
Pensato, Viviana, Magri, Stefania, Bella, Eleonora Dalla, Tannorella, Pierpaola, Bersano, Enrica, Sorarù, Gianni, Gatti, Marta, Ticozzi, Nicola, Taroni, Franco, Lauria, Giuseppe, Mariotti, Caterina, Gellera, Cinzia
Published in Journal of clinical medicine (03.02.2020)
Published in Journal of clinical medicine (03.02.2020)
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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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Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms
Salsano, Ettore, Tabano, Silvia, Sirchia, Silvia M, Colapietro, Patrizia, Castellotti, Barbara, Gellera, Cinzia, Rimoldi, Marco, Pensato, Viviana, Mariotti, Caterina, Pareyson, Davide, Miozzo, Monica, Uziel, Graziella
Published in Orphanet journal of rare diseases (26.01.2012)
Published in Orphanet journal of rare diseases (26.01.2012)
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PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature
Nanetti, Lorenzo, Pensato, Viviana, Leoni, Valerio, Rizzetto, Manuela, Caccia, Claudio, Taroni, Franco, Mariotti, Caterina, Gellera, Cinzia
Published in Journal of clinical neurology (Seoul, Korea) (01.04.2015)
Published in Journal of clinical neurology (Seoul, Korea) (01.04.2015)
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Behavioral and Cognitive Phenotypes of Patients With Amyotrophic Lateral Sclerosis Carrying SOD1 Variants
Dalla Bella, Eleonora, Bersano, Enrica, Bruzzone, Maria Grazia, Gellera, Cinzia, Pensato, Viviana, Lauria, Giuseppe, Consonni, Monica
Published in Neurology (01.11.2022)
Published in Neurology (01.11.2022)
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Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48
PENSATO, Viviana, CASTELLOTTI, Barbara, MORONI, Isabella, SOLIVERI, Paola, LAMPERTI, Elena, CHIAPPARINI, Luisa, DI BELLA, Daniela, TARONI, Franco, MARIOTTI, Caterina, GELLERA, Cinzia, PAREYSON, Davide, CIANO, Claudia, NANETTI, Lorenzo, SALSANO, Ettore, PISCOSQUITO, Giuseppe, SARTO, Elisa, EOLI, Marica
Published in Brain (London, England : 1878) (01.07.2014)
Published in Brain (London, England : 1878) (01.07.2014)
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Behavioural impairment in ALS patients with SOD1 mutations
Bella, Eleonora Dalla, Consonni, Monica, Bersano, Enrica, Pensato, Viviana, Gellera, Cinzia, Lauria, Giuseppe
Published in Journal of the neurological sciences (01.10.2021)
Published in Journal of the neurological sciences (01.10.2021)
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Journal Article
Missense mutation in ATXN2 gene (c.2860C > T) in an amyotrophic lateral sclerosis patient with aggressive disease phenotype
Ghezzi, Andrea, Martinelli, Ilaria, Carra, Serena, Mediani, Laura, Zucchi, Elisabetta, Simonini, Cecilia, Gianferrari, Giulia, Fini, Nicola, Cereda, Cristina, Gellera, Cinzia, Pensato, Viviana, Mandrioli, Jessica
Published in Neurological sciences (01.10.2022)
Published in Neurological sciences (01.10.2022)
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