Zobrazeno 1 - 10
of 196
pro vyhledávání: '"Laura Bannach JARDIM"'
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:
Vanessa Brzoskowski dos Santos, Annelise Ayres, Maiara Laís Mallmann Kieling, Elaine Cristina Miglorini, Laura Bannach Jardim, Artur Francisco Schumacher-Schuh, Carlos Roberto de Mello Rieder, Raphael Machado de Castilhos, Kristie Spencer, Rui Rothe-Neves, Maira Rozenfeld Olchik
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundThe basal ganglia and cerebellum both have a role in speech production although the effect of isolated involvement of these structures on speech fluency remains unclear.ObjectiveThe study aimed to assess the differences in the articulatory
Externí odkaz:
https://doaj.org/article/ff36fd9dd1ff40adbb07c790a77a1ca1
Autor:
Linliu Peng, Yun Peng, Zhao Chen, Chunrong Wang, Zhe Long, Huirong Peng, Yuting Shi, Lu Shen, Kun Xia, Vanessa B. Leotti, Laura Bannach Jardim, Beisha Tang, Rong Qiu, Hong Jiang
Publikováno v:
Journal of Translational Medicine, Vol 20, Iss 1, Pp 1-12 (2022)
Abstract Background In polyglutamine (polyQ) diseases, the identification of modifiers and the construction of prediction model for progression facilitate genetic counseling, clinical management and therapeutic interventions. Methods Data were derive
Externí odkaz:
https://doaj.org/article/cf0113613331410daaf08a461be7fa71
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:
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:
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:
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:
Desirèe Padilha Marchetti, Bruna Donida, Marion Deon, Carlos Eduardo Jacques, Laura Bannach Jardim, Carmen Regla Vargas
Publikováno v:
Clinical and Biomedical Research, Vol 37, Iss 1 (2017)
Introduction: Recent evidence shows that oxidative stress seems to be related with the pathophysiology of X-linked adrenoleukodystrophy (X-ALD), a neurodegenerative disorder. Methods: In the present study, the in vitro effect of N-acetyl-L-cysteine (
Externí odkaz:
https://doaj.org/article/ececda4a6ead42a1a346a4cf0248d50a
Autor:
Lavínia Schuler-Faccini, Claudio Maria Osorio, Flavia Romariz, Milena Paneque, Jorge Sequeiros, Laura Bannach Jardim
Publikováno v:
Genetics and Molecular Biology, Vol 37, Iss 1 suppl 1, Pp 263-270 (2014)
Machado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder and the most common form of spinocerebellar ataxia (SCA) worldwide. Diagnostic genetic testing is available to detect the disease-causing mutation by direct sizin
Externí odkaz:
https://doaj.org/article/48137b0e110b4029bf9564dcdfcfd176