Výsledky vyhledávání - "miopatias mitocondriais"

Caracterização de miopatias mitocondriais através da avaliação das atividades enzimáticas envolvidas no metabolismo energético

Autor: Lineu Cesar Werneck, Annibal P. Campello, M. L. W. Kluppel, Fábio Cesar Pedroso

Publikováno v: Arquivos de Neuro-Psiquiatria, Volume: 55, Issue: 2, Pages: 249-257, Published: JUN 1997
Arquivos de Neuro-Psiquiatria v.55 n.2 1997
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO

Foi determinada a atividade das enzimas NADH desidiogenase, NADH citocromo e redutase, succinato desidiogenase, succinato citocromo e redutase, citocromo e oxidase e citrato sintase em mitocôndrias de músculo esquelético humano normal e doente (su

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06e769af60735e9bd9310b5d7b8263e7
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1997000200013&lng=en&tlng=en

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Dissertation/ Thesis

Caracterização clínica, laboratorial e de neuroimagem de pacientes com doença mitocondrial associada à mutação m.3243A>G

Autor: Rocha, Margleice Marinho Vieira

INTRODUÇÃO: A forma clássica de encefalomiopatia mitocondrial associada à mutação do DNA mitocondrial m.3243A>G é a Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like episodes (síndrome de MELAS). Entretanto, o espectro de m

Externí odkaz: http://www.teses.usp.br/teses/disponiveis/17/17161/tde-06122016-093428/

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Akademický článek

MELAS: clinical features, muscle biopsy and molecular genetics MELAS: manifestações clínicas, biópsia muscular e estudo molecular

Autor: Paulo José Lorenzoni, Rosana H. Scola, Cláudia S. Kamoi Kay, Raquel C. Arndt, Aline A. Freund, Isac Bruck, Mara Lúcia S.F. Santos, Lineu C. Werneck

Publikováno v: Arquivos de Neuro-Psiquiatria, Vol 67, Iss 3a, Pp 668-676 (2009)

OBJECTIVE: The aim of the study was to analyze a series of Brazilian patients suffering from MELAS. METHOD: Ten patients with MELAS were studied with correlation between clinical findings, laboratorial data, electrophysiology, histochemical and molec

Externí odkaz: https://doaj.org/article/e96581c88ea44204b3f9413cc6b7c9c7

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Mitophagy protects against statin‐mediated skeletal muscle toxicity

Autor: Hannaneh Saadaeijahromi, Mridula Ramesh, Julio C.B. Ferreira, Kyle C Tucker, Pamela Lee, Jon Sin, Michael A. Gurney, Allen M. Andres, Juliane C. Campos, Genaro Hernandez, Yang Song

Publikováno v: FASEB J
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

The deleterious effects of statins on skeletal muscle are well known, but the mechanism associated with these effects remains unresolved. Statins are associated with mitochondrial damage, which may contribute to muscle myopathy. Here we demonstrate t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::313de7743dea7652ff1f1293d57153c7
https://doi.org/10.1096/fj.201900807rr

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Miopatia mitocondrial e deficiência auditiva neurossensorial: estudo de caso

Autor: Silva, Renata da, Souza, Marilia Rodrigues Freitas de, Oliveira, Acary Souza Bulle, Iório, Maria Cecília Martinelli

Publikováno v: CoDAS v.33 n.4 2021
CoDAS
Sociedade Brasileira de Fonoaudiologia (SBFA)
instacron:SBFA
CoDAS, Volume: 33, Issue: 4, Article number: e20200021, Published: 11 AUG 2021

Resumo A miopatia mitocondrial é causada pela ausência e/ou insuficiência de uma enzina quaternária, L-carnitina, responsável por transportar ácidos graxos livres para a parte interna da mitocôndria. A função da mitocôndria é produzir ener

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::bed6f1ae058360657025d77252685630
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2317-17822021000400401

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ADCK2 haploinsuciency reduces mitochondrial lipid oxidation and causes myopathy associated with CoQ deficiency

Autor: Matté, Cristiane, Vázquez-Fonseca, Luis, Navas, Plácido

Publikováno v: Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS

Fatty acids and glucose are the main bioenergetic substrates in mammals. Impairment of mitochondrial fatty acid oxidation causes mitochondrial myopathy leading to decreased physical performance. Here, we report that haploinsu ciency of ADCK2, a membe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3056::ee944cdb47bdd161fbf304468042e658

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Quantitation of muscle pathology abnormalities in 18 patients with mitochondrial disorders

Autor: Kouyoumdjian, João A., Graça, Carla Renata, Ferreira, Vanessa Fernanda M.

Publikováno v: Jornal Brasileiro de Patologia e Medicina Laboratorial, Volume: 54, Issue: 5, Pages: 325-332, Published: OCT 2018

INTRODUCTION: Mitochondrial disorders can lead to the accumulation of mitochondria in muscle fibers, as indicated by ragged red (RRF) or ragged blue fibers when stained with modified Gomori trichrome or succinate dehydrogenase (SDH+), respectively, a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______608::fbaadae0b8757391b6faadc16c2d5e57
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442018000500325&lng=en&tlng=en

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