Assessing neuronal dysfunction in pediatric MITochondrial encephalopathies by induced pluripotent stem (iPS) cells: novel tools o investigate energetic metabolism as a potential therapeutic target

Project

Overview

Contributors

RONCHI DARIO   Scientific Manager  

Departments involved

Type

CAR_RIC - Bandi Fondazione Cariplo

Funder

FONDAZIONE CARIPLO
External Organization Funding Organization

Date/time interval

January 1, 2015 - December 31, 2016

Project duration

24 months

Publications

Outputs (3)

Novel mutations in DNA2 associated with myopathy and mtDNA instability 
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
WILEY BLACKWELL SCIENCE
2019
Academic Article
Open Access
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Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1 
JOURNAL OF NEUROSCIENCE RESEARCH
WILEY BLACKWELL PUBLISHING
2018
Academic Article
Open Access
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Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions 
BRAIN
OXFORD UNIVERSITY PRESS
2018
Academic Article
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