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Eleonora Di Gregorio

University of Turin

69

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734

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New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review.

2020 Brain Sciences
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In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia-Telangiectasia patients.

2020 Scientific Reports
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Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity

2019 Neurobiology of Disease
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Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism

2019 Medicina-buenos Aires
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Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study

2019 Parkinsonism & Related Disorders
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Spinocerebellar Ataxia Type 38.

2019
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Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38

2017 Annals of Neurology
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Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice.

2017 Frontiers in Cellular Neuroscience
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Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes

2017 European Journal of Paediatric Neurology
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A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)

2017 Journal of Neurology, Neurosurgery, and Psychiatry
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