Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Lucas Schenatto Sena"'
Autor:
Lucas Schenatto Sena, Renan Barbosa Lemes, Gabriel Vasata Furtado, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Spinocerebellar ataxia types 2 (SCA2) and 3 (SCA3/MJD) are diseases due to dominant unstable expansions of CAG repeats (CAGexp). Age of onset of symptoms (AO) correlates with the CAGexp length. Repeat instability leads to increases in the
Externí odkaz:
https://doaj.org/article/00c474dee72541f393c1f57b03ac1b7f
Autor:
Raphael Machado CASTILHOS, Marina Coutinho AUGUSTIN, José Augusto dos SANTOS, José Luiz PEDROSO, Orlando BARSOTTINI, Roberta SABA, Henrique Ballalai FERRAZ, Fernando Regla VARGAS, Gabriel Vasata FURTADO, Marcia Polese-BONATTO, Luiza Paulsen RODRIGUES, Lucas Schenatto SENA, Carmen Regla VARGAS, Maria Luiza SARAIVA-PEREIRA, Laura Bannach JARDIM, Rede NEUROGENÉTICA
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 78, Iss 2, Pp 81-87 (2020)
ABSTRACT Background: Huntington’s disease (HD), caused by an expanded CAG repeat at HTT, has no treatment, and biomarkers are needed for future clinical trials. Objective: The objective of this study was to verify if free carnitine and branched cha
Externí odkaz:
https://doaj.org/article/0a775c15e7a645eb8c1bf15230a492e3
Autor:
Raphael Machado de Castilhos, José Augusto dos Santos, Marina Coutinho Augustin, José Luiz Pedroso, Orlando Barsottini, Roberta Saba, Henrique Ballalai Ferraz, Clécio Godeiro Junior, Fernando Regla Vargas, Diego Zanotti Salarini, Gabriel Vasata Furtado, Marcia Polese-Bonatto, Luiza Paulsen Rodrigues, Lucas Schenatto Sena, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim
Publikováno v:
Genetics and Molecular Biology
Abstract Huntington’s disease (HD) is due to dominant expansions of the CAG repeat of the HTT gene. Meiotic instability of the (CAG)n might impact the disorder frequency. We report on HD minimal prevalence in Rio Grande do Sul (RS) state, Brazil, a
Externí odkaz:
https://doaj.org/article/6009b5169b964443bf35fdb791388d33
Autor:
Jordânia dos Santos Pinheiro, Lucas Schenatto Sena, Karina Carvalho Donis, Gabriel Vasata Furtado, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim
Publikováno v:
The Cerebellum. 22:348-354
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a rare disease with diagnosis offered by the Unified Health System in Brazil. Our aim was to investigate the diagnostic delay in an interval of 23 years in a public university hospita
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b368047a72780e9ca51f5228325024f
https://doi.org/10.1007/s12311-022-01404-5
https://doi.org/10.1007/s12311-022-01404-5
Autor:
Vanessa Bielefeldt Leotti, Amanda Henz Cappelli, Camila Maria de Oliveira, Lucas Schenatto Sena, Nathalia Kersting, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Gabriela Bolzan, Anastácia Guimarães Rocha, Mariana Rieck, Ana Carolina Martins, Gabriela Ecco
Publikováno v:
The Cerebellum. 21:297-305
Although health-related quality of life (HRQoL) has been increasingly valued in healthcare and in clinical trials, there is scarce information about it in spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD). This study describes the HRQ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c1174f52d01e9f473fd6c98bc804574d
https://doi.org/10.1007/s12311-021-01299-8
https://doi.org/10.1007/s12311-021-01299-8
Autor:
Jordânia dos Santos Pinheiro, Ali Hasan, Laura Bannach Jardim, Maria Luiza Saraiva-Pereira, Lucas Schenatto Sena
Publikováno v:
Clinical geneticsREFERENCES. 100(3)
Dominant diseases due to expanded CAG repeat tracts, such as spinocerebellar ataxia type 2 (SCA2), are prone to anticipation and worsening of clinical picture in subsequent generations. There is insufficient data about selective forces acting on the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07f75f30b98dd6f36c24daaef4657413
https://pubmed.ncbi.nlm.nih.gov/33960424
https://pubmed.ncbi.nlm.nih.gov/33960424
Autor:
Ana Carolina Martins, Laura Bannach Jardim, Lucas Schenatto Sena, Camila Maria de Oliveira, Maria Luiza Saraiva-Pereira, Mariana Rieck, Amanda Henz Cappelli, Anastácia Guimarães Rocha, Nathalia Kersting, Gabriela Bolzan, Gabriela Ecco, Vanessa Bielefeldt Leotti
Publikováno v:
Movement disorders : official journal of the Movement Disorder SocietyReferences. 36(4)
Background The pathological burden of spinocerebellar ataxia type 3, also known as Machado-Joseph disease (SCA3/MJD), accumulates before the beginning of symptoms. Our study aims at validating biomarkers for disease progression since pre-ataxic perio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88b8f8b48235c51a22c7149f21b2a721
https://pubmed.ncbi.nlm.nih.gov/33438269
https://pubmed.ncbi.nlm.nih.gov/33438269
Autor:
Marina Coutinho Augustin, Márcia Polese-Bonatto, Gabriel Vasata Furtado, Roberta Arb Saba, Fernando Regla Vargas, José Augusto dos Santos, Orlando Graziani Povoas Barsottini, Lucas Schenatto Sena, Carmen Regla Vargas, Laura Bannach Jardim, José Luiz Pedroso, Raphael Machado de Castilhos, Luiza Paulsen Rodrigues, Henrique Ballalai Ferraz, Maria Luiza Saraiva-Pereira, Rede Neurogenética
Publikováno v:
Arquivos de Neuro-Psiquiatria, Volume: 78, Issue: 2, Pages: 81-87, Published: 09 MAR 2020
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Arquivos de Neuro-Psiquiatria v.78 n.2 2020
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO
Arquivos de Neuro-Psiquiatria, Vol 78, Iss 2, Pp 81-87 (2020)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Arquivos de Neuro-Psiquiatria v.78 n.2 2020
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO
Arquivos de Neuro-Psiquiatria, Vol 78, Iss 2, Pp 81-87 (2020)
Background: Huntington’s disease (HD), caused by an expanded CAG repeat at HTT, has no treatment, and biomarkers are needed for future clinical trials. Objective: The objective of this study was to verify if free carnitine and branched chain amino
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d277fd0e3b81e47f4182d9d41a82cd7f
https://pubmed.ncbi.nlm.nih.gov/32159721
https://pubmed.ncbi.nlm.nih.gov/32159721