Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data von Jacobi, Heike, MD, Reetz, Kathrin, MD, du Montcel, Sophie Tezenas, PhD, Bauer, Peter, MD, Mariotti, Caterina, MD, Nanetti, Lorenzo, MD, Rakowicz, Maria, PhD, Sulek, Anna, PhD, Durr, Alexandra, PhD, Charles, Perrine, PhD, Filla, Alessandro, Prof, Antenora, Antonella, MD, Schöls, Ludger, MD, Schicks, Julia, MD, Infante, Jon, MD, Kang, Jun-Suk, MD, Timmann, Dagmar, MD, Fabio, Roberto Di, MD, Masciullo, Marcella, MD, Baliko, Laszlo, MD, Melegh, Bela, Prof, Boesch, Sylvia, MD, Bürk, Katrin, MD, Peltz, Annkathrin, Schulz, Jörg B, Prof, Dufaure-Garé, Isabelle, PhD, Klockgether, Thomas, Prof

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Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48 von Magri, Stefania, Nanetti, Lorenzo, Gellera, Cinzia, Sarto, Elisa, Rizzo, Elena, Mongelli, Alessia, Ricci, Benedetta, Fancellu, Roberto, Sambati, Luisa, Cortelli, Pietro, Brusco, Alfredo, Bruzzone, Maria Grazia, Mariotti, Caterina, Di Bella, Daniela, Taroni, Franco

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A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies von Sala, Daniele, Marchet, Silvia, Nanetti, Lorenzo, Legati, Andrea, Mariotti, Caterina, Lamantea, Eleonora, Ghezzi, Daniele, Catania, Alessia, Lamperti, Costanza

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Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data von Reetz, Kathrin, Prof, Dogan, Imis, PhD, Costa, Ana S, MSc, Dafotakis, Manuel, MD, Fedosov, Kathrin, MSc, Giunti, Paola, MD, Parkinson, Michael H, MBBS, Sweeney, Mary G, BSc, Mariotti, Caterina, MD, Panzeri, Marta, MD, Nanetti, Lorenzo, MD, Arpa, Javier, MD, Sanz-Gallego, Irene, MD, Durr, Alexandra, Prof, Charles, Perrine, MD, Boesch, Sylvia, MD, Nachbauer, Wolfgang, MD, Klopstock, Thomas, MD, Karin, Ivan, MD, Depondt, Chantal, MD, vom Hagen, Jennifer Müller, MD, Schöls, Ludger, Prof, Giordano, Ilaria A, MD, Klockgether, Thomas, Prof, Bürk, Katrin, MD, Pandolfo, Massimo, Prof, Schulz, Jörg B, Prof Dr

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Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype von Gatti, Marta, Magri, Stefania, Di Bella, Daniela, Sarto, Elisa, Taroni, Franco, Mariotti, Caterina, Nanetti, Lorenzo

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Accelerometer-based measures in Friedreich ataxia: a longitudinal study on real-life activity von Fichera, Mario, Nanetti, Lorenzo, Monelli, Alessia, Castaldo, Anna, Marchini, Gloria, Neri, Marianna, Vukaj, Xhuljano, Marzorati, Mauro, Porcelli, Simone, Mariotti, Caterina

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

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Spinocerebellar Ataxia Type 1: One-Year Longitudinal Study to Identify Clinical and MRI Measures of Disease Progression in Patients and Presymptomatic Carriers von Nigri, Anna, Sarro, Lidia, Mongelli, Alessia, Castaldo, Anna, Porcu, Luca, Pinardi, Chiara, Grisoli, Marina, Ferraro, Stefania, Canafoglia, Laura, Visani, Elisa, Bruzzone, Maria Grazia, Nanetti, Lorenzo, Taroni, Franco, Mariotti, Caterina

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Tracking longitudinal thalamic volume changes during early stages of SCA1 and SCA2 von Grisoli, Marina, Nigri, Anna, Medina Carrion, Jean Paul, Palermo, Sara, Demichelis, Greta, Giacosa, Chiara, Mongelli, Alessia, Fichera, Mario, Nanetti, Lorenzo, Mariotti, Caterina

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Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders von 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

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Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias von Jacobi, Heike, du Montcel, Sophie Tezenas, Bauer, Peter, Giunti, Paola, Cook, Arron, Labrum, Robyn, Parkinson, Michael H., Durr, Alexandra, Brice, Alexis, Charles, Perrine, Marelli, Cecilia, Mariotti, Caterina, Nanetti, Lorenzo, Sarro, Lidia, Rakowicz, Maria, Sulek, Anna, Sobanska, Anna, Schmitz-Hübsch, Tanja, Schöls, Ludger, Hengel, Holger, Baliko, Laszlo, Melegh, Bela, Filla, Alessandro, Antenora, Antonella, Infante, Jon, Berciano, José, van de Warrenburg, Bart P., Timmann, Dagmar, Szymanski, Sandra, Boesch, Sylvia, Nachbauer, Wolfgang, Kang, Jun-Suk, Pandolfo, Massimo, Schulz, Jörg B., Melac, Audrey Tanguy, Diallo, Alhassane, Klockgether, Thomas

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ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype von Nanetti, Lorenzo, Sarto, Elisa, Castaldo, Anna, Magri, Stefania, Mongelli, Alessia, Rossi Sebastiano, Davide, Canafoglia, Laura, Grisoli, Marina, Malaguti, Chiara, Rivieri, Francesca, D’Amico, Maria Chiara, Di Bella, Daniela, Franceschetti, Silvana, Mariotti, Caterina, Taroni, Franco

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

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Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population von Mongelli, Alessia, Magri, Stefania, Salvatore, Elena, Rizzo, Elena, De Rosa, Anna, Fico, Tommasina, Gatti, Marta, Gellera, Cinzia, Taroni, Franco, Mariotti, Caterina, Nanetti, Lorenzo

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Generation of an iPSC line from a patient with spastic paraplegia type 10 carrying a novel mutation in KIF5A gene von Santangelo, Serena, Bossolasco, Patrizia, Magri, Stefania, Colombrita, Claudia, Invernizzi, Sabrina, Gellera, Cinzia, Nanetti, Lorenzo, Di Bella, Daniela, Silani, Vincenzo, Taroni, Franco, Ratti, Antonia

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Stance instability in preclinical SCA1 mutation carriers: A 4-year prospective posturography study von Nanetti, Lorenzo, Alpini, Dario, Mattei, Valentina, Castaldo, Anna, Mongelli, Alessia, Brenna, Greta, Gellera, Cinzia, Mariotti, Caterina

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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 von 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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Prediction of the disease course in Friedreich ataxia von Hohenfeld, Christian, Terstiege, Ulrich, Dogan, Imis, Giunti, Paola, Parkinson, Michael H., Mariotti, Caterina, Nanetti, Lorenzo, Fichera, Mario, Durr, Alexandra, Ewenczyk, Claire, Boesch, Sylvia, Nachbauer, Wolfgang, Klopstock, Thomas, Stendel, Claudia, Rodríguez de Rivera Garrido, Francisco Javier, Schöls, Ludger, Hayer, Stefanie N., Klockgether, Thomas, Giordano, Ilaria, Didszun, Claire, Rai, Myriam, Pandolfo, Massimo, Rauhut, Holger, Schulz, Jörg B., Reetz, Kathrin

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Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature von Nanetti, Lorenzo, Di Bella, Daniela, Magri, Stefania, Fichera, Mario, Sarto, Elisa, Castaldo, Anna, Mongelli, Alessia, Baratta, Silvia, Fenu, Silvia, Moscatelli, Marco, Bonati, Maria Teresa, Martinuzzi, Andrea, Mariotti, Caterina, Taroni, Franco

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Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2): a new case and review of the literature von Nanetti, Lorenzo, Fancellu, Roberto, Tomasello, Chiara, Gellera, Cinzia, Pareyson, Davide, Mariotti, Caterina

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