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Your search keyword '"Brussino, Alessandro"' showing total 8 results

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8 results on '"Brussino, Alessandro"'

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1. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

2. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

3. Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias

5. Spinocerebellar ataxia type 12 identified in two Italian families

6. Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.

7. Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.

8. Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity

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