Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Gabriel Vasata, Furtado"'
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:
Thais Lampert Monte, Estela da Rosa Reckziegel, Marina Coutinho Augustin, Lucas D. Locks-Coelho, Amanda Senna P. Santos, Gabriel Vasata Furtado, Eduardo Preusser de Mattos, José Luiz Pedroso, Orlando Póvoas Barsottini, Fernando Regla Vargas, Maria-Luiza Saraiva-Pereira, Suzi Alves Camey, Vanessa Bielefeldt Leotti, Laura Bannach Jardim, on behalf of Rede Neurogenética
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)
Abstract Background Spinocerebellar ataxia type 2 (SCA2) affects several neurological structures, giving rise to multiple symptoms. However, only the natural history of ataxia is well known, as measured during the study duration. We aimed to describe
Externí odkaz:
https://doaj.org/article/b2f35c7d4e7949df8c841d084a80654a
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:
Adriano M. de Assis, Jonas Alex Morales Saute, Aline Longoni, Clarissa Branco Haas, Vitor Rocco Torrez, Andressa Wigner Brochier, Gabriele Nunes Souza, Gabriel Vasata Furtado, Tailise Conte Gheno, Aline Russo, Thais Lampert Monte, Raphael Machado Castilhos, Artur Schumacher-Schuh, Rui D’Avila, Karina Carvalho Donis, Carlos Roberto de Mello Rieder, Diogo Onofre Souza, Suzi Camey, Vanessa Bielefeldt Leotti, Laura Bannach Jardim, Luis Valmor Portela
Publikováno v:
Frontiers in Neurology, Vol 8 (2017)
ObjectivesSpinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is a polyglutamine disorder with no current disease-modifying treatment. Conformational changes in mutant ataxin-3 trigger different pathogenic cascades, including reactive o
Externí odkaz:
https://doaj.org/article/c712334b2db44d84bedcb8a04f079aeb
Autor:
Di Wu, Hanna M Terpstra, Harm H. Kampinga, Steven Bergink, Sybille Krauss, Wei-Guo Zhu, Christos I Papagiannopoulos, Jing Yang, E. F. Elsiena Kuiper, Gabriel Vasata Furtado
Publikováno v:
Human Molecular Genetics, 30(11), 996-1005. Oxford University Press
Human Molecular Genetics
Human Molecular Genetics
FOXO1, a transcription factor downstream of the insulin/insulin like growth factor axis, has been linked to protein degradation. Elevated expression of FOXO orthologs can also prevent the aggregation of cytosine adenine guanine (CAG)-repeat disease c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3c1b696dd71c510c7b93cedd758d84c
https://doi.org/10.1093/hmg/ddab095
https://doi.org/10.1093/hmg/ddab095
Autor:
Laura Bannach, Jardim, Ali, Hasan, Sheng-Han, Kuo, Jonathan Javier, Magaña, Marcondes, França, Wilson, Marques, Claudia, Camejo, Luiz Carlos, Santana-da-Silva, Emília Embiruçu, Leão, Gisele, Espíndola, Francisca, Canals, Marcelo, Miranda, Igor, Salvatierra, Mario, Cornejo-Olivas, Juan, Fernandez-Ruiz, Pedro, Braga-Neto, David José, Dávila-Ortiz de Montellano, Luis Leonardo, Flores-Lagunes, Nicolas, Dupré, Bernard, Brais, Fernando Regla, Vargas, Clécio, Godeiro, Léo, Coutinho, Helio G, Teive, Marcelo, Kaufmann, Paula, Saffie, Gabriel Vasata, Furtado, Maria Luiza, Saraiva-Pereira, Orlando, Barsottini, José Luiz, Pedroso, Roberto, Rodríguez-Labrada, Luis, Velázquez-Pérez, Christopher, Gomez
Publikováno v:
Cerebellum (London, England)References.
Little is known about access of rare disease carriers to health care. To increase this knowledge, the Pan American Hereditary Ataxia Network (PAHAN) conducted an exploratory survey about care for hereditary ataxias in American continents and the Cari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f0700e5fa5b3a8497880f59ea38e1314
https://pubmed.ncbi.nlm.nih.gov/35796998
https://pubmed.ncbi.nlm.nih.gov/35796998
Autor:
Vanessa Bielefeldt Leotti, Maria Luiza Saraiva-Pereira, Fernando Regla Vargas, Gabriel Vasata Furtado, Pietro Baptista de Azevedo, Eduardo Preusser de Mattos, Anastácia Guimarães Rocha, Leda M. N. Keim, Laura Bannach Jardim, Daniel Lavinsky
Publikováno v:
The Cerebellum. 18:388-396
Spinocerebellar ataxia type 7 (SCA7) is a polyglutamine disease that progressively affects the cerebellum, brainstem, and retina. SCA7 is quite rare, and insights into biomarkers and pre-clinical phases are still missing. We aimed to describe neurolo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60a620f8b22f23cceeb24f9dc5dde589
https://doi.org/10.1007/s12311-019-1004-3
https://doi.org/10.1007/s12311-019-1004-3
Autor:
Laura Bannach Jardim, Gabriel Vasata Furtado, Camila Maria de Oliveira, Maria Luiza Saraiva-Pereira, Jonas Alex Morales Saute, Gabriela Bolzan
Publikováno v:
Genetics and Molecular Biology, Iss 0
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Genetics and Molecular Biology, Issue: ahead, Published: 10 JUN 2019
Genetics and Molecular Biology
Genetics and Molecular Biology v.42 n.1 suppl.1 2019
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 42, Issue: 1 Supplement 1, Pages: 238-251, Published: 10 JUN 2019
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Genetics and Molecular Biology, Issue: ahead, Published: 10 JUN 2019
Genetics and Molecular Biology
Genetics and Molecular Biology v.42 n.1 suppl.1 2019
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 42, Issue: 1 Supplement 1, Pages: 238-251, Published: 10 JUN 2019
Machado-Joseph disease (SCA3/MJD) is the most common spinocerebellar ataxia worldwide, and particularly so in Southern Brazil. Due to an expanded polyglutamine at ataxin-3, SCA3/MJD presents a relentless course with no current disease modifying treat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97d7138be5e177a54beef2899eed9db9
https://doi.org/10.1590/1678-4685-gmb-2018-0103
https://doi.org/10.1590/1678-4685-gmb-2018-0103
Autor:
Eduardo Preusser de Mattos, Victoria Marca, Pilar Mazzetti, Maria Luiza Saraiva-Pereira, Mario Cornejo-Olivas, Gabriel Vasata Furtado, Laura Bannach Jardim, Raphael Machado de Castilhos, Miguel Inca-Martinez, Giovana Bavia Bampi, Sandra Leistner-Segal
Publikováno v:
Cerebellum (London, England). 19(2)
The original version of this article unfortunately contained some mistakes in Table 2. The additional row (just above SCA2) with the following information “SCA1, 1(1), 1, 50, 74, 24, 46 and 0/1” should be inserted.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c8193cf1ad591a32e2a617de1a1e30b
https://pubmed.ncbi.nlm.nih.gov/31900855
https://pubmed.ncbi.nlm.nih.gov/31900855