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

gan Nanetti, Lorenzo, Pensato, Viviana, Leoni, Valerio, Rizzetto, Manuela, Caccia, Claudio, Taroni, Franco, Mariotti, Caterina, Gellera, Cinzia
Cyhoeddwyd yn J Clin Neurol (2015)

Very Late-Onset Friedreich Ataxia with Laryngeal Dystonia

gan Rota, Silvia, Marchina, Eleonora, Todeschini, Alice, Nanetti, Lorenzo, Rinaldi, Fabrizio, Vanotti, Alessandra, Mariotti, Caterina, Padovani, Alessandro, Filosto, Massimiliano
Cyhoeddwyd yn Case Rep Neurol (2014)

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

gan Capiluppi, Elisa, Romano, Luca, Rebora, Paola, Nanetti, Lorenzo, Castaldo, Anna, Gellera, Cinzia, Mariotti, Caterina, Macerollo, Antonella, Cislaghi, M. Giuliana
Cyhoeddwyd yn Neurol Sci (2019)

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

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

Somatosensory Conduction Pathway in Spastic Paraplegia Type 5

gan Vanotti, Alessandra, Nanetti, Lorenzo, Rossi Sebastiano, Davide, Visani, Elisa, Duran, Dunja, Di Bella, Daniela, Sarto, Elisa, Caccia, Claudio, Leoni, Valerio, Taroni, Franco, Mariotti, Caterina
Cyhoeddwyd 2014

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

gan 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
Cyhoeddwyd yn Front Neurol (2020)

Fiberoptic endoscopic evaluation of swallowing in early-to-advanced stage Huntington’s disease

gan Schindler, Antonio, Pizzorni, Nicole, Sassone, Jenny, Nanetti, Lorenzo, Castaldo, Anna, Poletti, Barbara, Solca, Federica, Pirola, Francesca, Lazzari, Laura, Stramba-Badiale, Marco, Rossi, Agnese, Silani, Vincenzo, Mariotti, Caterina, Ciammola, Andrea
Cyhoeddwyd yn Sci Rep (2020)

Frontal cortex BOLD signal changes in premanifest Huntington disease: A possible fMRI biomarker

gan Ferraro, Stefania, Nanetti, Lorenzo, Piacentini, Sylvie, Mandelli, Maria L., Bertolino, Nicola, Ghielmetti, Francesco, Epifani, Francesca, Nigri, Anna, Taroni, Franco, Bruzzone, Maria G., Donato, Stefano Di, Savoiardo, Mario, Mariotti, Caterina, Grisoli, Marina
Cyhoeddwyd 2014

In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients

gan Pozzi, Elisa, Giorgio, Elisa, Mancini, Cecilia, Lo Buono, Nicola, Augeri, Stefania, Ferrero, Marta, Di Gregorio, Eleonora, Riberi, Evelise, Vinciguerra, Maria, Nanetti, Lorenzo, Bianchi, Federico Tommaso, Sassi, Maria Paola, Costanzo, Vincenzo, Mariotti, Caterina, Funaro, Ada, Cavalieri, Simona, Brusco, Alfredo
Cyhoeddwyd yn Sci Rep (2020)

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study

gan Synofzik, Matthis, Smets, Katrien, Mallaret, Martial, Di Bella, Daniela, Gallenmüller, Constanze, Baets, Jonathan, Schulze, Martin, Magri, Stefania, Sarto, Elisa, Mustafa, Mona, Deconinck, Tine, Haack, Tobias, Züchner, Stephan, Gonzalez, Michael, Timmann, Dagmar, Stendel, Claudia, Klopstock, Thomas, Durr, Alexandra, Tranchant, Christine, Sturm, Marc, Hamza, Wahiba, Nanetti, Lorenzo, Mariotti, Caterina, Koenig, Michel, Schöls, Ludger, Schüle, Rebecca, de Jonghe, Peter, Anheim, Mathieu, Taroni, Franco, Bauer, Peter
Cyhoeddwyd yn Brain (2016)

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression

gan Diallo, Alhassane, Jacobi, Heike, Schmitz‐Hübsch, Tanja, Cook, Arron, Labrum, Robyn, Durr, Alexandra, Brice, Alexis, Charles, Perrine, Marelli, Cecilia, Mariotti, Caterina, Nanetti, Lorenzo, Panzeri, Marta, Rakowicz, Maria, Sobanska, Anna, Sulek, Anna, Schöls, Ludger, Hengel, Holger, Melegh, Bela, Filla, Alessandro, Antenora, Antonella, Infante, Jon, Berciano, José, van de Warrenburg, Bart P., Timmann, Dagmar, Boesch, Sylvia, Pandolfo, Massimo, Schulz, Jörg B., Bauer, Peter, Giunti, Paola, Baliko, Laszlo, Parkinson, Michael H., Kang, Jun‐Suk, Klockgether, Thomas, Tezenas du Montcel, Sophie
Cyhoeddwyd yn Mov Disord Clin Pract (2017)

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6

gan Tezenas du Montcel, Sophie, Durr, Alexandra, Rakowicz, Maria, Nanetti, Lorenzo, Charles, Perrine, Sulek, Anna, Mariotti, Caterina, Rola, Rafal, Schols, Ludger, Bauer, Peter, Dufaure-Garé, Isabelle, Jacobi, Heike, Forlani, Sylvie, Schmitz-Hübsch, Tanja, Filla, Alessandro, Timmann, Dagmar, van de Warrenburg, Bart P, Marelli, Cecila, Kang, Jun-Suk, Giunti, Paola, Cook, Arron, Baliko, Laszlo, Bela, Melegh, Boesch, Sylvia, Szymanski, Sandra, Berciano, José, Infante, Jon, Buerk, Katrin, Masciullo, Marcella, Di Fabio, Roberto, Depondt, Chantal, Ratka, Susanne, Stevanin, Giovanni, Klockgether, Thomas, Brice, Alexis, Golmard, Jean-Louis
Cyhoeddwyd 2014