PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature

por Nanetti, Lorenzo, Pensato, Viviana, Leoni, Valerio, Rizzetto, Manuela, Caccia, Claudio, Taroni, Franco, Mariotti, Caterina, Gellera, Cinzia
Publicado 2015

The gene coding for PGC-1α modifies age at onset in Huntington's Disease

por Weydt, Patrick, Soyal, Selma M, Gellera, Cinzia, DiDonato, Stefano, Weidinger, Claus, Oberkofler, Hannes, Landwehrmeyer, G Bernhard, Patsch, Wolfgang
Publicado 2009

Cortical markers of cognitive syndromes in amyotrophic lateral sclerosis

por Consonni, Monica, Contarino, Valeria E., Catricalà, Eleonora, Dalla Bella, Eleonora, Pensato, Viviana, Gellera, Cinzia, Lauria, Giuseppe, Cappa, Stefano F.
Publicado 2018

Late-onset Huntington’s disease with 40–42 CAG expansion

por Capiluppi, Elisa, Romano, Luca, Rebora, Paola, Nanetti, Lorenzo, Castaldo, Anna, Gellera, Cinzia, Mariotti, Caterina, Macerollo, Antonella, Cislaghi, M. Giuliana
Publicado 2019

An Optimized Method for Manufacturing a Clinical Scale Dendritic Cell-Based Vaccine for the Treatment of Glioblastoma

por Nava, Sara, Dossena, Marta, Pogliani, Simona, Pellegatta, Serena, Antozzi, Carlo, Baggi, Fulvio, Gellera, Cinzia, Pollo, Bianca, Parati, Eugenio A., Finocchiaro, Gaetano, Frigerio, Simona
Publicado 2012

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein

por Nanetti, Lorenzo, Cavalieri, Simona, Pensato, Viviana, Erbetta, Alessandra, Pareyson, Davide, Panzeri, Marta, Zorzi, Giovanna, Antozzi, Carlo, Moroni, Isabella, Gellera, Cinzia, Brusco, Alfredo, Mariotti, Caterina
Publicado 2013

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

por 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
Publicado 2012

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

por 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
Publicado 2020

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

por 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
Publicado 2019

Progression of Cerebellar Atrophy in Spinocerebellar Ataxia Type 2 Gene Carriers: A Longitudinal MRI Study in Preclinical and Early Disease Stages

por 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
Publicado 2020

MiR-146a in ALS: Contribution to Early Peripheral Nerve Degeneration and Relevance as Disease Biomarker

por 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
Publicado 2023

Functional Characterization of Two Variants at the Intron 6—Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes

por 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
Publicado 2022

Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes

por Castellotti, Barbara, Canafoglia, Laura, Freri, Elena, Tappatà, Maria, Messina, Giuliana, Magri, Stefania, DiFrancesco, Jacopo C., Fanella, Martina, Di Bonaventura, Carlo, Morano, Alessandra, Granata, Tiziana, Gellera, Cinzia, Franceschetti, Silvana, Michelucci, Roberto
Publicado 2023

Analysis of miRNA rare variants in amyotrophic lateral sclerosis and in silico prediction of their biological effects

por 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
Publicado 2022

Glutamine Synthetase 1 Increases Autophagy Lysosomal Degradation of Mutant Huntingtin Aggregates in Neurons, Ameliorating Motility in a Drosophila Model for Huntington’s Disease

por 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
Publicado 2020

Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients

por 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
Publicado 2020

Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I

por 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
Publicado 2020

Identification of a cytokine profile in serum and cerebrospinal fluid of pediatric and adult spinal muscular atrophy patients and its modulation upon nusinersen treatment

por 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
Publicado 2022

Human Adipose-Derived Mesenchymal Stem Cells as a New Model of Spinal and Bulbar Muscular Atrophy

por 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
Publicado 2014

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

por 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.
Publicado 2015