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Simona Donatello

Université libre de Bruxelles

21

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611

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Oxidative stress and loss of Fe-S proteins in Friedreich ataxia induced pluripotent stem cell-derived PSNs can be reversed by restoring FXN expression with a benzamide HDAC inhibitor.

2017 bioRxiv
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Friedreich ataxia-induced pluripotent stem cell-derived neurons show a cellular phenotype that is corrected by a benzamide HDAC inhibitor

2016 Human Molecular Genetics
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MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43)

2016 Neurology Genetics
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Characterization of the epilepsy gene DEPDC5 in a mouse embryonic stem cell model. (P4.252)

2015 Neurology
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Autosomal recessive cerebellar ataxia of adult onset due to STUB1 Mutations

2014 Neurology
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A novel mechanism of regulating breast cancer cell migration via palmitoylation-dependent alterations in the lipid raft affiliation of CD44

2014 Breast Cancer Research
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Mutations in DEPDC5: A major cause of familial focal epilepsy

2013 Epilepsia
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Mutations in DEPDC5 cause familial focal epilepsy with variable foci

2013 Nature Genetics
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Mutations in DEPDC5 cause Familial Focal Epilepsy with Variable Foci and are a common cause of familial non-lesional focal epilepsy

2013 Neurology
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Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy

2013 Annals of Neurology
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Citations (17)