mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly

Autor: Camila A. B. Garcia, Simone C. S. Carvalho, Xiaoxu Yang, Laurel L. Ball, Renee D. George, Kiely N. James, Valentina Stanley, Martin W. Breuss, Ursula Thomé, Marcelo V. Santos, Fabiano P. Saggioro, Luciano Neder Serafini, Wilson A. Silva Jr, Joseph G. Gleeson, Hélio R. Machado

Publikováno v: Epilepsia Open, Vol 5, Iss 1, Pp 97-106 (2020)

Abstract Objectives Recently, defects in the protein kinase mTOR (mammalian target of rapamycin) and its associated pathway have been correlated with hemimegalencephaly (HME). mTOR acts as a central regulator of important physiological cellular funct

Externí odkaz: https://doaj.org/article/1f3c6d7b09ea410daa70db74d4bc3c11

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Developmental dyscalculia in children and adolescents with idiopathic epilepsies in a Brazilian sample

Autor: Ursula Thomé, Sandra Regina da Paixão Alves, Sabrina Mendonça Guerreiro, Célia Regina Carvalho Machado da Costa, Fernanda de Souza Moreira, Andrea Bandeira Lima, Maria Rita Ferreira Tavares, Heber Souza Maia Filho

Publikováno v: Arquivos de Neuro-Psiquiatria, Vol 72, Iss 4, Pp 283-288 (2014)

Epilepsy is one of the most prevalent chronic disorders of childhood which can threaten child development and mental health. Among cognitive disorders, dyscalculia is one of the most important. In this study, 39 children and adolescents with idiopath

Externí odkaz: https://doaj.org/article/85d78b1a9329474f8a92557bac51c773

mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly

Autor: Kiely N. James, Fabiano Pinto Saggioro, Camila Araújo Bernardino Garcia, Renee D. George, Xiaoxu Yang, Martin W. Breuss, Ursula Thomé, Laurel L. Ball, Wilson A. Silva, Luciano Neder Serafini, Marcelo Volpon Santos, Simone da Costa e Silva Carvalho, Hélio Rubens Machado, Joseph G. Gleeson, Valentina Stanley

Publikováno v: Epilepsia Open, Vol 5, Iss 1, Pp 97-106 (2020)
Epilepsia Open
Epilepsia open, vol 5, iss 1
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

Objectives Recently, defects in the protein kinase mTOR (mammalian target of rapamycin) and its associated pathway have been correlated with hemimegalencephaly (HME). mTOR acts as a central regulator of important physiological cellular functions such

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::365f908cbf0b47c448b854402572e43a
https://doaj.org/article/1f3c6d7b09ea410daa70db74d4bc3c11

Late onset presentation of Leigh syndrome on two cases Apresentação tardia da síndrome de Leigh: a propósito de dois casos

Autor: Ursula Thomé, Alexandre Fernandes, Osvaldo José Moreira do Nascimento, Marcos Raimundo Gomes de Freitas, Marco Antônio Araujo Leite

Publikováno v: Arquivos de Neuro-Psiquiatria, Vol 68, Iss 3, Pp 466-468 (2010)

Externí odkaz: https://doaj.org/article/2d68d0f2e3e64a918d4121e54b286563