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Stem Cell Research|August 3, 2019
Antisense oligonucleotide therapy rescues aggresome formation in a novel spinocerebellar ataxia type 3 human embryonic stem cell lineLauren R Moore, Laura Keller, David D Bushart, et al.
Neurobiology of Disease|May 23, 2022
Altered retinal structure and function in Spinocerebellar ataxia type 3Vasileios Toulis, Ricardo Casaroli-Marano, Anna Camós-Carreras, et al.
European Journal of Human Genetics : EJHG|October 23, 2003
Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practiceMaria do Carmo Costa, Paula Magalhães, Fátima Ferreirinha, et al.
Neurobiology of Disease|June 1, 2010
Motor uncoordination and neuropathology in a transgenic mouse model of Machado-Joseph disease lacking intranuclear inclusions and ataxin-3 cleavage productsAnabela Silva-Fernandes, Maria do Carmo Costa, Sara Duarte-Silva, et al.
Journal of Human Genetics|July 22, 2006
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 phenotypeMaria do Carmo Costa, Andreia Teixeira-Castro, Marco Constante, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|June 15, 2013
Toward RNAi therapy for the polyglutamine disease Machado-Joseph diseaseMaria do Carmo Costa, Katiuska Luna-Cancalon, Svetlana Fischer, et al.
Human Molecular Genetics|August 22, 2014
Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cellsAndreia Neves-Carvalho, Elsa Logarinho, Ana Freitas, et al.
Multiple Sclerosis (Houndmills, Basingstoke, England)|May 6, 2004
Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese originMónica Santos, Maria do Carmo Costa, Maria Edite Rio, et al.
Brain : a Journal of Neurology|September 21, 2016
Unbiased screen identifies aripiprazole as a modulator of abundance of the polyglutamine disease protein, ataxin-3Maria do Carmo Costa, Naila S Ashraf, Svetlana Fischer, et al.
Neurobiology of Disease|February 29, 2024
Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph diseaseMafalda Raposo, Jeannette Hübener-Schmid, Rebecca Tagett, et al.
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