Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Marina Rodrigues e Silva"'
Autor:
Umbertina Conti Reed, C.A. Martins, João Bosco Pesquero, Jocelyn Laporte, Osorio Abath Neto, Edmar Zanoteli, Acary Souza Bulle Oliveira, Valérie Biancalana, Marina Rodrigues e Silva
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
Background Myotubular myopathy is a rare X-linked congenital myopathy characterized by marked neonatal hypotonia and respiratory insufficiency, facial and ocular involvement, and muscle biopsy with prominent central nuclei in the majority of muscle f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff2f008c6e4cf02f0f0a3a519479afa1
https://pubmed.ncbi.nlm.nih.gov/26995067
https://pubmed.ncbi.nlm.nih.gov/26995067
Autor:
Ana Maria Martins, Valber Dias Teixeira, Sandro Soares de Almeida, João Bosco Pesquero, Lauro Thiago Turaça, Maria Verônica Munoz Rojas, Sandra Obikawa Kyosen, Fabiana Louise Motta, Juliana Gilbert Pessoa, Vânia D'Almeida, Marina Rodrigues e Silva, Douglas Oliveira Soares de Faria
Publikováno v:
Gene. 561(1)
Pompe disease is an autosomal recessive disorder linked to GAA gene that leads to a multi-system intralysosomal accumulation of glycogen. Mutation identification in the GAA gene can be very important for early diagnosis, correlation between genotype-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2ed536c55c0add423b7f253a8c2ee63
https://pubmed.ncbi.nlm.nih.gov/25681614
https://pubmed.ncbi.nlm.nih.gov/25681614
Autor:
Michael Bader, João Bosco Pesquero, J.W. Nascimento, Marina Rodrigues e Silva, José António Pereira da Silva
Publikováno v:
International immunopharmacology. 8(2)
In this study, we used an experimental model of cardiac hypertrophy to explore the role of the kallikrein-kinin system (KKS) in cardiac protection in transgenic rats harboring the human tissue kallikrein gene, TGR(hKLK1). Tissue kallikrein cleaves lo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dad6776576f803b83115865fe26804f8
https://pubmed.ncbi.nlm.nih.gov/18182238
https://pubmed.ncbi.nlm.nih.gov/18182238
Autor:
M. S. Carvalho, Marina Rodrigues e Silva, Gerson Chadi, O. Abath, Edmar Zanoteli, João Bosco Pesquero, Umbertina Conti Reed, Acary Sousa Bulle Oliveira
Publikováno v:
Neuromuscular Disorders. 22:844
Myotubular and centronuclear myopathies (MTM/CNM) are congenital muscle diseases with a wide clinical spectrum and typical histopathological findings of nuclear centralizations. Four genes have been implicated in different clinical forms: MTM1 in sev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::25c585f6af68db237fb0fb5ea633208b
https://doi.org/10.1016/j.nmd.2012.06.139
https://doi.org/10.1016/j.nmd.2012.06.139