Grazia Madeo

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BACKGROUND DYT1 dystonia, a severe form of genetically determined human dystonia, exhibits reduced penetrance among carriers and begins usually during adolescence. The reasons for such age dependence and variability remain unclear. METHODS AND RESULTS We characterized the alterations in D2 dopamine receptor (D2R) signalling in striatal cholinergic(More)
The fragile X-associated tremor/ataxia (FXTAS) is a late onset neurodegenerative disorder, occurring in male carriers of a premutation expansion (50–200 repeats CGG) in the fragile X mental retardation 1 (FMR1) gene [1], and clinically characterized by phenotypic predominance of either cerebellar ataxia or intention tremor, and variably associated with(More)
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