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Ivelisse Sánchez

Autonomous University of Barcelona

11

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346

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Rare Neurodegenerative Diseases: Clinical and Genetic Update

2017 Advances in Experimental Medicine and Biology
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Ataxin-1 regulates the cerebellar bioenergetics proteome through the GSK3β-mTOR pathway which is altered in Spinocerebellar ataxia type 1 (SCA1).

2016 Human Molecular Genetics
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Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia

2015 Neurogenetics
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A novel function of Ataxin-1 in the modulation of PP2A activity is dysregulated in the spinocerebellar ataxia type 1

2013 Human Molecular Genetics
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New Subtype of Spinocerebellar Ataxia With Altered Vertical Eye Movements Mapping to Chromosome 1p32

2013 JAMA Neurology
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