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
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
Published in Lancet neurology (01.07.2013)
Published in Lancet neurology (01.07.2013)
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Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6
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
Published in Journal of medical genetics (01.07.2014)
Published in Journal of medical genetics (01.07.2014)
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Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease
Di Fabio, Roberto, Moro, Francesca, Pestillo, Liliana, Meschini, Maria C, Pezzini, Francesco, Doccini, Stefano, Casali, Carlo, Pierelli, Francesco, Simonati, Alessandro, Santorelli, Filippo M
Published in Neurology (04.11.2014)
Published in Neurology (04.11.2014)
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Gait Pattern in Inherited Cerebellar Ataxias
Serrao, Mariano, Pierelli, Francesco, Ranavolo, Alberto, Draicchio, Francesco, Conte, Carmela, Don, Romildo, Di Fabio, Roberto, LeRose, Margherita, Padua, Luca, Sandrini, Giorgio, Casali, Carlo
Published in Cerebellum (London, England) (01.03.2012)
Published in Cerebellum (London, England) (01.03.2012)
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Brain imaging in Kufs disease type B: case reports
Di Fabio, Roberto, Colonnese, Claudio, Santorelli, Filippo Maria, Pestillo, Liliana, Pierelli, Francesco
Published in BMC neurology (04.07.2015)
Published in BMC neurology (04.07.2015)
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The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy
Racis, Loretta, Tessa, Alessandra, Di Fabio, Roberto, Storti, Eugenia, Agnetti, Virgilio, Casali, Carlo, Santorelli, Filippo M., Pugliatti, Maura
Published in Journal of neurology (01.01.2014)
Published in Journal of neurology (01.01.2014)
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Delirium after gabapentin withdrawal. Case report
Di Fabio, Roberto, D'Agostino, Cecilia, Baldi, Giulio, Pierelli, Francesco
Published in Canadian journal of neurological sciences (01.01.2013)
Published in Canadian journal of neurological sciences (01.01.2013)
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Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion
Denora, Paola S, Schlesinger, David, Casali, Carlo, Kok, Fernando, Tessa, Alessandra, Boukhris, Amir, Azzedine, Hamid, Dotti, Maria Teresa, Bruno, Claudio, Truchetto, Jeremy, Biancheri, Roberta, Fedirko, Estelle, Di Rocco, Maja, Bueno, Clarissa, Malandrini, Alessandro, Battini, Roberta, Sickl, Elisabeth, de Leva, Maria Fulvia, Boespflug-Tanguy, Odile, Silvestri, Gabriella, Simonati, Alessandro, Said, Edith, Ferbert, Andreas, Criscuolo, Chiara, Heinimann, Karl, Modoni, Anna, Weber, Peter, Palmeri, Silvia, Plasilova, Martina, Pauri, Flavia, Cassandrini, Denise, Battisti, Carla, Pini, Antonella, Tosetti, Michela, Hauser, Erwin, Masciullo, Marcella, Fabio, Roberto Di, Piccolo, Francesca, Denis, Elodie, Cioni, Giovanni, Massa, Roberto, Giustina, Elvio Della, Calabrese, Olga, Melone, Marina A.B, De Michele, Giuseppe, Federico, Antonio, Bertini, Enrico, Durr, Alexandra, Brockmann, Knut, van der Knaap, Marjo S, Zatz, Mayana, Filla, Alessandro, Brice, Alexis, Stevanin, Giovanni, Santorelli, Filippo M
Published in Human mutation (01.03.2009)
Published in Human mutation (01.03.2009)
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Infantile Childhood Onset of Spinocerebellar Ataxia Type 2
Di Fabio, Roberto, Santorelli, Filippo, Bertini, Enrico, Balestri, Martina, Cursi, Laura, Tessa, Alessandra, Pierelli, Francesco, Casali, Carlo
Published in Cerebellum (London, England) (01.06.2012)
Published in Cerebellum (London, England) (01.06.2012)
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De novo FTL mutation: A clinical, neuroimaging, and molecular study
Storti, Eugenia, Cortese, Francesca, Di Fabio, Roberto, Fiorillo, Chiara, Pierallini, Alberto, Tessa, Alessandra, Valleriani, Annamaria, Pierelli, Francesco, Santorelli, Filippo M., Casali, Carlo
Published in Movement disorders (01.02.2013)
Published in Movement disorders (01.02.2013)
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Idiopathic pes cavus in adults is not associated with neurophysiological impairment in the lower limbs
Di Fabio, Roberto, Lispi, Ludovico, Santorelli, Filippo Maria, Castagnoli, Claudio, Matrigale, Andrea, Dentini, Alessandra, Locuratolo, Nicoletta, Fattapposta, Francesco, Pierelli, Francesco
Published in Neurological sciences (01.12.2015)
Published in Neurological sciences (01.12.2015)
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Nociceptive trigeminocervical reflexes in healthy subjects
Serrao, Mariano, Coppola, Gianluca, Di Lorenzo, Cherubino, Di Fabio, Roberto, Padua, Luca, Sandrini, Giorgio, Pierelli, Francesco
Published in Clinical neurophysiology (01.09.2010)
Published in Clinical neurophysiology (01.09.2010)
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Scuba Diving Is Not Associated With High Prevalence of Headache: A Cross-Sectional Study in Men
Di Fabio, Roberto, Vanacore, Nicola, Davassi, Chiara, Serrao, Mariano, Pierelli, Francesco
Published in Headache (01.03.2012)
Published in Headache (01.03.2012)
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Sudden Stopping in Patients with Cerebellar Ataxia
Serrao, Mariano, Conte, Carmela, Casali, Carlo, Ranavolo, Alberto, Mari, Silvia, Di Fabio, Roberto, Perrotta, Armando, Coppola, Gianluca, Padua, Luca, Monamì, Stefano, Sandrini, Giorgio, Pierelli, Francesco
Published in Cerebellum (London, England) (01.10.2013)
Published in Cerebellum (London, England) (01.10.2013)
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Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1
Di Fabio, Roberto, Marcotulli, Christian, Tessa, Alessandra, Leonardi, Luca, Storti, Eugenia, Pierelli, Francesco, Santorelli, Filippo M., Casali, Carlo
Published in Journal of neurology (01.04.2014)
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The contribution of trigemino-cervical reflexes in distinguishing progressive supranuclear palsy from multiple system atrophy
Serrao, Mariano, Di Fabio, Roberto, Bartolo, Michelangelo, Perrotta, Armando, Tassorelli, Cristina, Coppola, Gianluca, Davassi, Chiara, Padua, Luca, Sandrini, Giorgio, Pierelli, Francesco
Published in Clinical neurophysiology (01.09.2011)
Published in Clinical neurophysiology (01.09.2011)
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