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Lista de obras de Maria do Carmo Costa

Absence of ataxin-3 leads to cytoskeletal disorganization and increased cell death

artículo científico publicado en 2010

Ataxin-3 plays a role in mouse myogenic differentiation through regulation of integrin subunit levels

artículo científico publicado en 2010

Citalopram Reduces Aggregation of ATXN3 in a YAC Transgenic Mouse Model of Machado-Joseph Disease

scientific article published on 04 September 2018

Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells

artículo científico publicado en 2014

Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype

artículo científico publicado en 2006

Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3.

artículo científico publicado en 2007

Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado-Joseph disease (MJD) gene

artículo científico publicado en 2004

Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin

artículo científico publicado en 2004

In Vivo Molecular Signatures of Cerebellar Pathology in Spinocerebellar Ataxia Type 3

artículo científico publicado en 2020

Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3).

artículo científico publicado en 2009

Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice

artículo científico publicado en 2003

Motor uncoordination and neuropathology in a transgenic mouse model of Machado-Joseph disease lacking intranuclear inclusions and ataxin-3 cleavage products

artículo científico publicado en 2010

Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea

artículo científico publicado en 2005

The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutation

artículo científico publicado en 2005

Towards a structural understanding of the fibrillization pathway in Machado-Joseph's disease: trapping early oligomers of non-expanded ataxin-3.

artículo científico publicado en 2005

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