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Revista Brasileira De Psiquiatria (Sao Paulo, Brazil : 1999)|April 30, 2010
WHOQOL-OLD assessment of quality of life in elderly patients with Parkinson's disease: influence of sleep and depressive symptomsRegina Margis, Karina Carvalho Donis, Suzana Veiga Schönwald, et al.
Cerebellum (London, England)|February 3, 2025
Unveiling Spinocerebellar Ataxia 25: First Case Report of a Brazilian FamilyRenata Barreto Tenorio, José Sávio Soares de Lira, Marcela Ferreira Cordellini, et al.
Journal of Community Genetics|January 2, 2024
Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophiesAlice Maria Luderitz Hoefel, Cesar Augusto Weschenfelder, Bruna Faria Rosa, et al.
Cerebellum (London, England)|November 10, 2023
Diagnostic Yield of NGS Tests for Hereditary Ataxia: a Systematic ReviewRenata Barreto Tenorio, Carlos Henrique F Camargo, Karina Carvalho Donis, et al.
Genetics and Molecular Biology|June 7, 2019
Clinical research challenges in rare genetic diseases in BrazilLuciana Giugliani, Claudia Vanzella, Marina Bauer Zambrano, et al.
Cerebellum (London, England)|April 15, 2022
Diagnostic Delay of Hereditary Ataxias in Brazil: the Case of Machado-Joseph DiseaseJordânia Dos Santos Pinheiro, Lucas Schenatto Sena, Karina Carvalho Donis, et al.
Molecular Syndromology|February 15, 2024
Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case ReportLucas Augusto Hauschild, Taciana Seixas Maia da Silva, Pablo Brea Winckler, et al.
Molecular Genetics and Metabolism Reports|December 18, 2020
Cardiovascular findings in classic homocystinuriaMarco Antônio Baptista Kalil, Karina Carvalho Donis, Fabiano de Oliveira Poswar, et al.
Biochimie|February 28, 2020
Is the gut microbiota dysbiotic in patients with classical homocystinuria?Gustavo Mottin Rizowy, Soraia Poloni, Karina Colonetti, et al.
Clinical Genetics|June 8, 2020
Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathiesJanice Pacheco Dias Padilha, Carolina Serpa Brasil, Alice Maria Luderitz Hoefel, et al.
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