Literature DB >> 26173860

Replicating studies of genetic modifiers in spinocerebellar ataxia type 3: can homogeneous cohorts aid?

Mafalda Raposo1, Amanda Ramos2, Conceição Bettencourt3, Manuela Lima2.   

Abstract

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Year:  2015        PMID： 26173860     DOI： 10.1093/brain/awv206

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  6 in total

1.  Promoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients.

Authors:  Mafalda Raposo; Conceição Bettencourt; Amanda Ramos; Nadiya Kazachkova; João Vasconcelos; Teresa Kay; Jácome Bruges-Armas; Manuela Lima
Journal:  Neuromolecular Med       Date:  2016-05-31       Impact factor: 3.843

2.  Triplet Repeat Primed PCR (TP-PCR) in Molecular Diagnostic Testing for Spinocerebellar Ataxia Type 3 (SCA3).

Authors:  Ana Rosa Vieira Melo; Amanda Ramos; Nadiya Kazachkova; Mafalda Raposo; Bruno Filipe Bettencourt; Ana Rita Rendeiro; Teresa Kay; João Vasconcelos; Jácome Bruges-Armas; Manuela Lima
Journal:  Mol Diagn Ther       Date:  2016-12       Impact factor: 4.074

3.  Genetic Variation in ATXN3 (Ataxin-3) 3'UTR: Insights into the Downstream Regulatory Elements of the Causative Gene of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3.

Authors:  Ana Rosa Vieira Melo; Mafalda Raposo; Marta Ventura; Sandra Martins; Sara Pavão; Isabel Alonso; Conceição Bettencourt; Manuela Lima
Journal:  Cerebellum       Date:  2022-01-16       Impact factor: 3.847

4.  Co-occurrence of ATXN3 and ATXN2 repeat expansions in Chinese ataxia patients with slow saccades.

Authors:  Chao Wu; Qiong Cai; Huajing You; Xiangxue Zhou; Dingbang Chen; Guiling Mo; Xunhua Li
Journal:  Mol Genet Genomic Med       Date:  2019-03-28       Impact factor: 2.183

5.  DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.

Authors:  Conceição Bettencourt; Davina Hensman-Moss; Michael Flower; Sarah Wiethoff; Alexis Brice; Cyril Goizet; Giovanni Stevanin; Georgios Koutsis; Georgia Karadima; Marios Panas; Petra Yescas-Gómez; Lizbeth Esmeralda García-Velázquez; María Elisa Alonso-Vilatela; Manuela Lima; Mafalda Raposo; Bryan Traynor; Mary Sweeney; Nicholas Wood; Paola Giunti; Alexandra Durr; Peter Holmans; Henry Houlden; Sarah J Tabrizi; Lesley Jones
Journal:  Ann Neurol       Date:  2016-05-06       Impact factor: 10.422

6.  Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease.

Authors:  Fulya Akçimen; Sandra Martins; Calwing Liao; Cynthia V Bourassa; Hélène Catoire; Garth A Nicholson; Olaf Riess; Mafalda Raposo; Marcondes C França; João Vasconcelos; Manuela Lima; Iscia Lopes-Cendes; Maria Luiza Saraiva-Pereira; Laura B Jardim; Jorge Sequeiros; Patrick A Dion; Guy A Rouleau
Journal:  Aging (Albany NY)       Date:  2020-03-23       Impact factor: 5.682
  6 in total

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