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ORSINI , Alessandro

Last name: ORSINI

First name: Alessandro

May 24, 2021 (v1)

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Clinical features, disease evolution, ocular phenotype and electroretinogram abnormalities in Italian Lafora disease patients: a road to precision therapy

ORSINI, ALESSANDRO

INTRODUCTION: Lafora disease (LD) is characterized by progressive myoclonus, refractory epilepsy, and cognitive deterioration,associated with pathogenic variants in EPM2A/EPM2B, encoding laforin and malin, two glycogen metabolism enzymes. Long-term follow-up data of this rare disease are lacking. So we collect the entire Lafora Disease italian...

Uploaded on: April 14, 2023
2017 (v1)

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NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities

Accogli, Andrea Iacomino, Michele Pinto, Francesca

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Uploaded on: April 14, 2023