Isabel Onofre

University of Coimbra — Portugal

Neuroscience · Life Sciences

10h-index725citations12works0.02yr avg
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Research Topics

Genetic Neurodegenerative Diseases(11), Mitochondrial Function and Pathology(8), Autophagy in Disease and Therapy(3), Neurological disorders and treatments(3), Parkinson's Disease Mechanisms and Treatments(2)

Publications12 total

Nuclear aging in polyglutamine-induced neurodegeneration
2023· 1 citedOpen Access
Mitochondrial and Redox Modifications in Huntington Disease Induced Pluripotent Stem Cells Rescued by CRISPR/Cas9 CAGs Targeting
Frontiers in Cell and Developmental Biology·2020· 38 citedOpen Access
Protocol for the Characterization of the Cytosine-Adenine-Guanine Tract and Flanking Polymorphisms in Machado-Joseph Disease
Journal of Molecular Diagnostics·2020· 7 cited
Loss of hierarchical imprinting regulation at the Prader–Willi/Angelman syndrome locus in human iPSCs
Human Molecular Genetics·2018· 32 citedOpen Access
Stem Cell-Based Therapies for Polyglutamine Diseases
Advances in experimental medicine and biology·2018· 14 cited
Unravelling Endogenous MicroRNA System Dysfunction as a New Pathophysiological Mechanism in Machado-Joseph Disease
Molecular Therapy·2017· 63 citedOpen Access
Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment
Scientific Reports·2016· 80 citedOpen Access
RNA Interference Mitigates Motor and Neuropathological Deficits in a Cerebellar Mouse Model of Machado-Joseph Disease
PLoS ONE·2014· 41 citedOpen Access
Beclin 1 mitigates motor and neuropathological deficits in genetic mouse models of Machado–Joseph disease
Brain·2013· 96 citedOpen Access
Silencing Mutant Ataxin-3 Rescues Motor Deficits and Neuropathology in Machado-Joseph Disease Transgenic Mice
PLoS ONE·2013· 119 citedOpen Access
Overexpression of Mutant Ataxin-3 in Mouse Cerebellum Induces Ataxia and Cerebellar Neuropathology
The Cerebellum·2012· 33 cited
Overexpression of the autophagic beclin-1 protein clears mutant ataxin-3 and alleviates Machado–Joseph disease
Brain·2011· 201 citedOpen Access

Frequent Co-authors

Luís Pereira de Almeida(12), Isabel Nascimento-Ferreira(5), Nicole Déglon(5), Clévio Nóbrega(5), David Albuquerque(4), Sara Lopes(3), Hirokazu Hirai(2), Ana Vasconcelos‐Ferreira(2), Célia A. Aveleira(2), Nuno Mendonça(2), Rui Jorge Nobre(2), Cristina Januário(2), Vítor Carmona(2), Janete Cunha‐Santos(2), Tiago Santos‐Ferreira(1), Lígia Sousa-Ferreira(1), Gwennaëlle Aurégan(1), Sandro Alves(1), Noëlle Dufour(1), Veronica F. Colomer Gould(1)