Výsledky vyhledávání - Gellera, Cinzia

PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature Autor Nanetti, Lorenzo, Pensato, Viviana, Leoni, Valerio, Rizzetto, Manuela, Caccia, Claudio, Taroni, Franco, Mariotti, Caterina, Gellera, Cinzia

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The gene coding for PGC-1α modifies age at onset in Huntington's Disease Autor Weydt, Patrick, Soyal, Selma M, Gellera, Cinzia, DiDonato, Stefano, Weidinger, Claus, Oberkofler, Hannes, Landwehrmeyer, G Bernhard, Patsch, Wolfgang

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Cortical markers of cognitive syndromes in amyotrophic lateral sclerosis Autor Consonni, Monica, Contarino, Valeria E., Catricalà, Eleonora, Dalla Bella, Eleonora, Pensato, Viviana, Gellera, Cinzia, Lauria, Giuseppe, Cappa, Stefano F.

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Late-onset Huntington’s disease with 40–42 CAG expansion Autor Capiluppi, Elisa, Romano, Luca, Rebora, Paola, Nanetti, Lorenzo, Castaldo, Anna, Gellera, Cinzia, Mariotti, Caterina, Macerollo, Antonella, Cislaghi, M. Giuliana

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Detection of Large Pathogenic Expansions in FRDA1, SCA10, and SCA12 Genes Using a Simple Fluorescent Repeat-Primed PCR Assay Autor Cagnoli, Claudia, Michielotto, Chiara, Matsuura, Tohru, Ashizawa, Tetsuo, Margolis, Russell L., Holmes, Susan E., Gellera, Cinzia, Migone, Nicola, Brusco, Alfredo

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An Optimized Method for Manufacturing a Clinical Scale Dendritic Cell-Based Vaccine for the Treatment of Glioblastoma Autor Nava, Sara, Dossena, Marta, Pogliani, Simona, Pellegatta, Serena, Antozzi, Carlo, Baggi, Fulvio, Gellera, Cinzia, Pollo, Bianca, Parati, Eugenio A., Finocchiaro, Gaetano, Frigerio, Simona

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SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein Autor Nanetti, Lorenzo, Cavalieri, Simona, Pensato, Viviana, Erbetta, Alessandra, Pareyson, Davide, Panzeri, Marta, Zorzi, Giovanna, Antozzi, Carlo, Moroni, Isabella, Gellera, Cinzia, Brusco, Alfredo, Mariotti, Caterina

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Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms Autor 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

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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 Autor Pensato, Viviana, Magri, Stefania, Dalla Bella, Eleonora, Tannorella, Pierpaola, Bersano, Enrica, Sorarù, Gianni, Gatti, Marta, Ticozzi, Nicola, Taroni, Franco, Lauria, Giuseppe, Mariotti, Caterina, Gellera, Cinzia

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ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study Autor Filosto, Massimiliano, Aureli, Massimo, Castellotti, Barbara, Rinaldi, Fabrizio, Schiumarini, Domitilla, Valsecchi, Manuela, Lualdi, Susanna, Mazzotti, Raffaella, Pensato, Viviana, Rota, Silvia, Gellera, Cinzia, Filocamo, Mirella, Padovani, Alessandro

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Large Pathogenic Expansions in the SCA2 and SCA7 Genes Can Be Detected by Fluorescent Repeat-Primed Polymerase Chain Reaction Assay Autor Cagnoli, Claudia, Stevanin, Giovanni, Michielotto, Chiara, Gerbino Promis, Giovanni, Brussino, Alessandro, Pappi, Patrizia, Durr, Alexandra, Dragone, Elisa, Viemont, Michelle, Gellera, Cinzia, Brice, Alexis, Migone, Nicola, Brusco, Alfredo

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Cognitive Syndromes and C9orf72 Mutation Are Not Related to Cerebellar Degeneration in Amyotrophic Lateral Sclerosis Autor 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

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Progression of Cerebellar Atrophy in Spinocerebellar Ataxia Type 2 Gene Carriers: A Longitudinal MRI Study in Preclinical and Early Disease Stages Autor Nigri, Anna, Sarro, Lidia, Mongelli, Alessia, Pinardi, Chiara, Porcu, Luca, Castaldo, Anna, Ferraro, Stefania, Grisoli, Marina, Bruzzone, Maria Grazia, Gellera, Cinzia, Taroni, Franco, Mariotti, Caterina, Nanetti, Lorenzo

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Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome Autor Ferri, Lorenzo, Donati, Maria A, Funghini, Silvia, Cavicchi, Catia, Pensato, Viviana, Gellera, Cinzia, Natacci, Federica, Spaccini, Luigina, Gasperini, Serena, Vaz, Frédéric M, Cooper, David N, Guerrini, Renzo, Morrone, Amelia

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Functional Characterization of Two Variants at the Intron 6—Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes Autor Mosca, Ilaria, Rivolta, Ilaria, Labalme, Audrey, Ambrosino, Paolo, Castellotti, Barbara, Gellera, Cinzia, Granata, Tiziana, Freri, Elena, Binda, Anna, Lesca, Gaetan, DiFrancesco, Jacopo C., Soldovieri, Maria Virginia, Taglialatela, Maurizio

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Glutamine Synthetase 1 Increases Autophagy Lysosomal Degradation of Mutant Huntingtin Aggregates in Neurons, Ameliorating Motility in a Drosophila Model for Huntington’s Disease Autor Vernizzi, Luisa, Paiardi, Chiara, Licata, Giusimaria, Vitali, Teresa, Santarelli, Stefania, Raneli, Martino, Manelli, Vera, Rizzetto, Manuela, Gioria, Mariarosa, Pasini, Maria E., Grifoni, Daniela, Vanoni, Maria A., Gellera, Cinzia, Taroni, Franco, Bellosta, Paola

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Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients Autor Bonanno, Silvia, Marcuzzo, Stefania, Malacarne, Claudia, Giagnorio, Eleonora, Masson, Riccardo, Zanin, Riccardo, Arnoldi, Maria Teresa, Andreetta, Francesca, Simoncini, Ornella, Venerando, Anna, Gellera, Cinzia, Pantaleoni, Chiara, Mantegazza, Renato, Bernasconi, Pia, Baranello, Giovanni, Maggi, Lorenzo

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Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I Autor Mosca, Rosario, van de Vlekkert, Diantha, Campos, Yvan, Fremuth, Leigh E., Cadaoas, Jaclyn, Koppaka, Vish, Kakkis, Emil, Tifft, Cynthia, Toro, Camilo, Allievi, Simona, Gellera, Cinzia, Canafoglia, Laura, Visser, Gepke, Annunziata, Ida, d’Azzo, Alessandra

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Human Adipose-Derived Mesenchymal Stem Cells as a New Model of Spinal and Bulbar Muscular Atrophy Autor Dossena, Marta, Bedini, Gloria, Rusmini, Paola, Giorgetti, Elisa, Canazza, Alessandra, Tosetti, Valentina, Salsano, Ettore, Sagnelli, Anna, Mariotti, Caterina, Gellera, Cinzia, Navone, Stefania Elena, Marfia, Giovanni, Alessandri, Giulio, Corsi, Fabio, Parati, Eugenio Agostino, Pareyson, Davide, Poletti, Angelo

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Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease Autor 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.

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