Zobrazeno 1 - 10
of 172
pro vyhledávání: '"Maria Luiza SARAIVA-PEREIRA"'
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:
Mafalda Raposo, Conceição Bettencourt, Ana Rosa Vieira Melo, Ana F. Ferreira, Isabel Alonso, Paulo Silva, João Vasconcelos, Teresa Kay, Maria Luiza Saraiva-Pereira, Marta D. Costa, Daniela Vilasboas-Campos, Bruno Filipe Bettencourt, Jácome Bruges-Armas, Henry Houlden, Peter Heutink, Laura Bannach Jardim, Jorge Sequeiros, Patrícia Maciel, Manuela Lima
Publikováno v:
Neurobiology of Disease, Vol 162, Iss , Pp 105578- (2022)
Machado-Joseph disease (MJD/SCA3) is a neurodegenerative polyglutamine disorder exhibiting a wide spectrum of phenotypes. The abnormal size of the (CAG)n at ATXN3 explains ~55% of the age at onset variance, suggesting the involvement of other factors
Externí odkaz:
https://doaj.org/article/092ddc3822fc493ea73849aef1ba8fc6
Autor:
Diana Rojas Málaga, Ana Carolina Brusius-Facchin, Marina Siebert, Gabriela Pasqualim, Maria Luiza Saraiva-Pereira, Carolina F.M de Souza, Ida V.D. Schwartz, Ursula Matte, Roberto Giugliani
Publikováno v:
Genetics and Molecular Biology, Iss 0 (2019)
Abstract Lysosomal storage disorders (LSDs) constitute a heterogeneous group of approximately 50 genetic disorders. LSDs diagnosis is challenging due to variability in phenotype penetrance, similar clinical manifestations, and a high allelic heteroge
Externí odkaz:
https://doaj.org/article/b711a73e6ece42439f78bc2a1557738c
Autor:
Roberto Giugliani, Fernanda Bender, Rowena Couto, Aline Bochernitsan, Ana Carolina Brusius-Facchin, Maira Burin, Tatiana Amorim, Angelina Xavier Acosta, Antônio Purificação, Sandra Leistner-Segal, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Ursula Matte, Mariluce Riegel, Augusto César Cardoso-dos-Santos, Graziella Rodrigues, Marcelo Zagonel de Oliveira, Alice Tagliani-Ribeiro, Selia Heck, Vanusa Dresch, Lavínia Schuler-Faccini, Francyne Kubaski
Publikováno v:
Genetics and Molecular Biology, Iss 0 (2019)
Abstract Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation of physiologica
Externí odkaz:
https://doaj.org/article/3b9cfc2431bf4168914bb31ecb58b269
Autor:
Paulo José Lorenzoni, Elaine Cardoso, Ana C. S. Crippa, Charles Marques Lourenço, Fernanda Timm Seabra Souza, Roberto Giugliani, Maria Luiza Saraiva-Pereira, Salmo Raskin, Isac Bruck, Cláudia S. K. Kay, Rosana H. Scola, Lineu C.Werneck, Hélio A. G. Teive
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 72, Iss 3, Pp 214-218 (2014)
The aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease type C (NP-C). Method Correlations between clinical findings, laboratory data, molecular findings and treatment response are presented. Result The sample con
Externí odkaz:
https://doaj.org/article/a02badeda6ba48cc82dfe4d8ace2fc43
Autor:
Renata Voltolini Velho, Taciane Alegra, Fernanda Sperb, Nataniel Floriano Ludwig, Maria Luiza Saraiva-Pereira, Ursula Matte, Ida V.D. Schwartz
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 98-102 (2014)
Mucolipidosis III (ML III) gamma is a very rare autosomal-recessive disorder characterized by the abnormal trafficking and subcellular localization of lysosomal enzymes due to mutations in the GNPTG gene. The present study consists of a report of a B
Externí odkaz:
https://doaj.org/article/f50e769dde1f47169cb068241e1b05fa
Autor:
Vinícius Buaes Dal'Maso, Lucas Mallmann, Marina Siebert, Laura Simon, Maria Luiza Saraiva-Pereira, Paulo de Tarso Roth Dalcin
Publikováno v:
Jornal Brasileiro de Pneumologia, Vol 39, Iss 2, Pp 181-189 (2013)
OBJECTIVE: To evaluate the diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in patients suspected of having mild or atypical cystic fibrosis (CF). METHODS: This was a cross-sectional
Externí odkaz:
https://doaj.org/article/7dd46989eb9e44acbe4b3ca36ebc00cb
Autor:
Vinícius Buaes Dal'Maso, Lucas Mallmann, Marina Siebert, Laura Simon, Maria Luiza Saraiva-Pereira, Paulo de Tarso Roth Dalcin
Publikováno v:
Jornal Brasileiro de Pneumologia, Vol 39, Iss 2, Pp 181-189 (2013)
OBJETIVO: Avaliar a contribuição da análise molecular do gene cystic fibrosis transmembrane conductance regulator (CFTR, regulador da condutância transmembrana na fibrose cística) na investigação diagnóstica da fibrose cística em pacientes c
Externí odkaz:
https://doaj.org/article/fe438eb295de475182ab559878bc52d0
Autor:
Ernestina Silva de Aguiar, Juliana Giacomazzi, Aishameriane Venes Schmidt, Hugo Bock, Maria Luiza Saraiva-Pereira, Lavínia Schuler-Faccini, Dakir Duarte Filho, Pollyanna Almeida Costa dos Santos, Roberto Giugliani, Maira Caleffi, Suzi Alves Camey, Patrícia Ashton-Prolla
Publikováno v:
Revista Brasileira de Epidemiologia, Vol 15, Iss 2, Pp 246-255 (2012)
Genetic polymorphisms in genes related to the metabolism of xenobiotics, such as genes of the glutathione S-transferases (GSTM1, GSTT1, and GSTP1) superfamily have been associated with an increased risk for breast cancer (BC). Considering the high in
Externí odkaz:
https://doaj.org/article/4405d8ea00514afca8dc9c67960a6075