Zobrazeno 1 - 9 of 9 pro vyhledávání: '"Marcela Câmara Machado Costa"'
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Akademický článek
MicroRNA as potential biomarker for severity, progression, and therapeutic monitoring in animal models of limb-girdle muscular dystrophy: a systematic review
Autor: Mayala Thayrine de Jesus Santos Oliveira, Talita Araújo Barbosa da Silva Santana, Marcela Câmara Machado Costa, Grasiely Faccin Borges, Felipe Silva de Miranda, José Slaibi-Filho, Wilson Barros Luiz, Luciene Cristina Gastalho Campos
Publikováno v: Frontiers in Cellular Neuroscience, Vol 17 (2023)
Limb-girdle muscular dystrophies (LGMD) constitute a heterogeneous group of neuromuscular disorders in which there are alterations in proteins responsible for the preservation of muscle architecture and function, leading to proximal and progressive m
Externí odkaz: https://doaj.org/article/1d21e8424d654d7795b165de47a507f9
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3
Small-fibre Neuropathy in Patients with Familial Amyotrophic Lateral Sclerosis Type 8
Autor: Marcela Câmara Machado-Costa, Miguel Mitne-Neto, Luiza Helena Degani Costa, Luciana Moura Alves, Acary Souza Bulle Oliveira, Mayana Zatz, Helga Cristina Almeida Silva
Publikováno v: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. :1-6
Background: Amyotrophic lateral sclerosis (ALS) is a degenerative disease of the nervous system that primarily affects motor neurons. ALS type 8 (ALS8) is a familiar form with predominant involvement of lower motor neurons, tremor, and slow progressi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a9e484361984f48d024f1b8c2a5fe43
https://doi.org/10.1017/cjn.2022.331
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4
Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis
Autor: Diego Santana Chaves G. Miguel, Lucas Vergne C. Lins, Mayala Thayrine de J. S. Oliveira, Marcela Câmara Machado-Costa, Jemima A. da Silva-Batista, Wilson Marques, Adilson Junior P. Galvão
Publikováno v: Web of Science
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
Made available in DSpace on 2020-12-10T17:36:03Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-08-01 Amyloidosis, caused by a mutation in the transthyretin (TTR) gene, is the most common hereditary type disease. More than 120 mutations have b
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d483202f1ff9bf80ea9cea8d567ba46
https://doi.org/10.1038/s10038-020-0749-3
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5
Involvement of cranial nerves in ATTR Ile127Val amyloidosis
Autor: Jemima A. da Silva Batista, Luiza R. Carrera, Adriele R.F. Viriato, Marco Antônio C. Novaes, Renato José L. de Morais, Francisco T.O. Oliveira, Wilson Marques, Marcela Câmara Machado- Costa
Publikováno v: European Journal of Medical Genetics. 65:104524
The involvement of cranial nerves is rare in ATTR amyloidosis. However, involvement has occasionally been reported in the p.Val50Met variant, the most commonly studied worldwide. On the other hand, in ATTR p.Ile127Val, an uncommon variant, the crania
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18985b8d85945f0d60f884b9ceb2c841
https://doi.org/10.1016/j.ejmg.2022.104524
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6
Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis
Autor: Jemima A, da Silva-Batista, Wilson, Marques, Mayala Thayrine de J S, Oliveira, Lucas Vergne C, Lins, Adilson Junior P, Galvão, Diego Santana Chaves G, Miguel, Marcela Câmara, Machado-Costa
Publikováno v: Journal of human genetics. 65(8)
Amyloidosis, caused by a mutation in the transthyretin (TTR) gene, is the most common hereditary type disease. More than 120 mutations have been described, with extensive phenotypic heterogeneity. Val30Met (p.Val50Met) is the most frequent mutation,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1b490c61b14b6cc50c5d6911458063ec
https://pubmed.ncbi.nlm.nih.gov/32269295
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7
A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome
Autor: Paulo E. Marchiori, Yoshiteru Azuma, Osorio Abath Neto, Edmar Zanoteli, A A Zambon, Umbertina Conti Reed, André Clériston José dos Santos, Roberta Paiva Magalhães Ortega, Hanns Lochmüller, Carlos Otto Heise, Ana Töpf, Eduardo de Paula Estephan, Vitor Marques Caldas, Marcela Câmara Machado Costa, Wilson Marques, Pedro J. Tomaselli, Cláudia Ferreira da Rosa Sobreira, André Macedo Serafim da Silva, Rodrigo de Holanda Mendonça
Publikováno v: J Neurol
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
The most common causes of congenital myasthenic syndromes (CMS) are CHRNE mutations, and some pathogenic allelic variants in this gene are especially frequent in certain ethnic groups. In the southern region of Brazil, a study found the c.130dupG CHR
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2213d2936b66384f67881e40a424a2d2
https://pubmed.ncbi.nlm.nih.gov/29383513
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