Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Tailise Conte, Gheno"'
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:
Fernanda Marques de Souza Godinho, Hugo Bock, Tailise Conte Gheno, Maria Luiza Saraiva-Pereira
Publikováno v:
Genetics and Molecular Biology, Vol 35, Iss 4, Pp 955-959 (2012)
Spinal muscular atrophy (SMA) is an autosomal recessive inherited disorder caused by alterations in the survival motor neuron I (SMN1) gene. SMA patients are classified as type I-IV based on severity of symptoms and age of onset. About 95% of SMA cas
Externí odkaz:
https://doaj.org/article/e1d026a7bc834bec896ccdf4c234be10
Autor:
Fernanda de-Paris, Alice Beatriz Mombach Pinheiro Machado, Tailise Conte Gheno, Bruna Maria Ascoli, Kátia Ruschel Pilger de Oliveira, Afonso Luis Barth
Publikováno v:
Brazilian Journal of Infectious Diseases, Vol 15, Iss 4, Pp 323-327 (2011)
Streptococcus agalactiae or group B Streptococcus (GBS) is one of the most important causal agents of serious neonatal infections. Numerous assays have been evaluated for GBS screening in order to validate a fast and efficient method. The aim of this
Externí odkaz:
https://doaj.org/article/ffb94cd09b1d489fa8eb5a0df2ebe4a6
Autor:
Raphael Machado de Castilhos, Vitor Rocco Torrez, Gabriel Vasata Furtado, Karina Carvalho Donis, Diogo O. Souza, Artur F. Schumacher-Schuh, Tailise Conte Gheno, Gerson da Silva Carvalho, Suzi Alves Camey, Gabriele Nunes Souza, Luis Valmor Cruz Portela, Aline Dutra Russo, Jonas Alex Morales Saute, Maria Luiza Saraiva-Pereira, Clarissa Haas, Laura Bannach Jardim, Andressa Wigner Brochier, Vanessa Leotti Torman, Rui D'Ávila, Thais Lampert Monte
Publikováno v:
The Cerebellum. 15:518-525
The aim of the present study is to describe the serum concentrations of a broad spectrum of cytokines in symptomatic and asymptomatic carriers of Machado Joseph disease (SCA3/MJD) CAG expansions. Molecularly confirmed carriers and controls were studi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cb2f3c96b21f8ab88cac6d00109f108
https://doi.org/10.1007/s12311-015-0719-z
https://doi.org/10.1007/s12311-015-0719-z
Autor:
Gabriel Vasata Furtado, Pedro Braga-Neto, Laura Bannach Jardim, Orlando Graziani Povoas Barsottini, José Luiz Pedroso, Maria Luiza Saraiva-Pereira, Tailise Conte Gheno
Publikováno v:
Cerebellum (London, England). 16(4)
Dentatorubro-pallidoluysian atrophy (DRPLA) is a spinocerebellar ataxia (SCA) very rare in non-Asian populations. To date, DRPLA was undetected in the general Brazilian population. Adult-onset ataxic patients have been recruited from several Brazilia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9628fde8d6f121992f8056c6babb55f9
https://pubmed.ncbi.nlm.nih.gov/28432641
https://pubmed.ncbi.nlm.nih.gov/28432641
Autor:
Maria Cátira Bortolini, Tábita Hünemeier, Rafael Bisso-Machado, Pillar Mazzeti, Diego Véliz-Otani, Mario Cornejo-Olivas, Laura Bannach Jardim, Tailise Conte Gheno, Gabriel Vasata Furtado, Giovana Bavia Bampi, Maria Luiza Saraiva-Pereira
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disorder characterized by progressive cerebellar ataxia and epilepsy. The disease is caused by a pentanucleotide ATTCT expansion in intron 9 of the ATXN10 gene on chrom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdd80feddfe23f190f2eabb7bec495a0
Autor:
Raphael Machado de Castilhos, Maria Luiza Saraiva-Pereira, Carlos Roberto de Mello Rieder, Diogo O. Souza, Aline Dutra Russo, Suzi Alvez Camey, Rui D'Ávila, Karina Carvalho Donis, Gabriele Nunes Souza, Luis Valmor Cruz Portela, Vanessa Leotti Torman, Laura Bannach Jardim, Artur F. Schumacher-Schuh, Tailise Conte Gheno, Gabriel Vasata Furtado, Jonas Alex Morales Saute, Thais Lampert Monte
Publikováno v:
Movement Disorders. 29:568-573
Background Because lithium exerts neuroprotective effects in preclinical models of polyglutamine disorders, our objective was to assess the safety and efficacy of lithium carbonate (0.5-0.8 milliequivalents per liter) in patients with Machado-Joseph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ecc94b451806aefbfdc274e7fcbe4784
https://doi.org/10.1002/mds.25803
https://doi.org/10.1002/mds.25803
Autor:
Katia Lin, Eliana Ternes Pereira, Diego Salarini, M.-A.F.D. Lima, Raphael Machado de Castilhos, Carlos Roberto de Mello Rieder, Jorge Sequeiros, Isabel Alonso, Laura Bannach Jardim, Fernando Regla Vargas, Marlene Quintas, Amanda de Souza, José Luiz Pedroso, Maria Betânia Pereira Toralles, Gabriel Vasata Furtado, Jonas Alex Morales Saute, Tailise Conte Gheno, Orlando Graziani Povoas Barsottini, A.L. Silva, Clecio Godeiro, Maria Luiza Saraiva-Pereira
Publikováno v:
Clinical Genetics. 86:373-377
The aim of this study was to identify the relative frequency of Huntington's disease (HD) and HD-like (HDL) disorders HDL1, HDL2, spinocerebellar ataxia type 2 (SCA2), SCA17, dentatorubral-pallidoluysian degeneration (DRPLA), benign hereditary chorea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6c5fff1d31b6210bcea5c32e5ad83674
https://doi.org/10.1111/cge.12283
https://doi.org/10.1111/cge.12283
Autor:
Luiz Carlos Santana-da-Silva, Orlando Graziani Povoas Barsottini, Erlane Marques Ribeiro, Paola da Silva Schaeffer, Silvana Santos, Helio van der Linden, Clecio Godeiro, Maria Betânia Pereira Toralles, Raphael Machado de Castilhos, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Héctor Yuri Conti Wanderley, Tailise Conte Gheno, Fernando Regla Vargas, Diego Salarini, Eliana Ternes Pereira, Maria A.F.D. De Lima, Gabriel Vasata Furtado, Aline Dutra Russo, José Luiz Pedroso, Paula Frassineti Vanconcelos de Medeiros
Publikováno v:
The Cerebellum. 13:17-28
This study describes the frequency of spinocerebellar ataxias and of CAG repeats range in different geographical regions of Brazil, and explores the hypothetical role of normal CAG repeats at ATXN1, ATXN2, ATXN3, CACNA1A, and ATXN7 genes on age at on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b7306f03d7917df86edb5fa98be9ccf
https://doi.org/10.1007/s12311-013-0510-y
https://doi.org/10.1007/s12311-013-0510-y
Autor:
Raphael Machado de Castilhos, Karina Carvalho Donis, Laura Bannach Jardim, Diogo Onofre Gomes de Souza, Gabriel Vasata Furtado, Suzi Alves Camey, Aline Dutra Russo, Thais Lampert Monte, Rui D'Ávila, Maria Luiza Saraiva-Pereira, Luis Valmor Cruz Portela, Carlos Roberto de Mello Rieder, Artur F. Schumacher-Schuh, Jonas Alex Morales Saute, Gabriele Nunes Souza, Vanessa Leotti Torman, Tailise Conte Gheno
Publikováno v:
Journal of the neurological sciences. 358(1-2)
In a recent phase 2 clinical trial in spinocerebellar ataxia type 3/Machado Joseph disease (SCA3/MJD), a neurogenetic disorder without specific therapy, benefits of lithium carbonate were found only on secondary efficacy outcomes, all related to atax
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2a9a950db0782af7bd34759f7c62154
https://pubmed.ncbi.nlm.nih.gov/26297649
https://pubmed.ncbi.nlm.nih.gov/26297649