Isabel Onofre
Coimbra, Portugal
Last Updated: 09/26/2026
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Found 10 publications
Mitochondrial and Redox Modifications in Huntington Disease Induced Pluripotent Stem Cells Rescued by CRISPR/Cas9 CAGs Targeting.
Journal: Frontiers in cell and developmental biology
Published: June 26, 2020
Protocol for the Characterization of the Cytosine-Adenine-Guanine Tract and Flanking Polymorphisms in Machado-Joseph Disease: Impact on Diagnosis and Development of Gene-Based Therapies.
Journal: The Journal of molecular diagnostics : JMD
Published: December 21, 2018
Loss of hierarchical imprinting regulation at the Prader-Willi/Angelman syndrome locus in human iPSCs.
Journal: Human molecular genetics
Published: June 06, 2018
Stem Cell-Based Therapies for Polyglutamine Diseases.
Journal: Advances in experimental medicine and biology
Published: February 11, 2018
Unravelling Endogenous MicroRNA System Dysfunction as a New Pathophysiological Mechanism in Machado-Joseph Disease.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: September 05, 2016
Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment.
Journal: Scientific reports
Published: December 29, 2015
Beclin 1 mitigates motor and neuropathological deficits in genetic mouse models of Machado-Joseph disease.
Journal: Brain : a journal of neurology
Published: June 27, 2013
Overexpression of mutant ataxin-3 in mouse cerebellum induces ataxia and cerebellar neuropathology.
Journal: Cerebellum (London, England)
Published: December 18, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026