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Small-expanded allele spinocerebellar ataxia 17: imaging and phenotypic variability |
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| Authors: | Paolini Paoletti Federico Prontera Paolo Nigro Pasquale Simoni Simone Cappelletti Giulia Filidei Marta Calabresi Paolo Parnetti Lucilla Tambasco Nicola |
| Affiliation: | 1.Neurology Department, Perugia General Hospital and Perugia University, Perugia, Italy ;2.Medical Genetics Unit, Perugia General Hospital and University of Perugia, Perugia, Italy ;3.Movement Disorder Center, Perugia General Hospital and Perugia University, Perugia, Italy ;4.Neurology Department, Policlinico Gemelli, Rome, Italy ;5.IRCCS Fondazione Santa Lucia, Rome, Italy ; |
| Abstract: | Neurological Sciences - Spinocerebellar ataxia 17 (SCA17) is a rare genetic cause of adult-onset ataxia caused by an abnormal expansion of the CAG/CAA sequence in the TATA-box Binding Protein (TBP)... |
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