Results 31 to 40 of about 3,285 (240)

Encefalomiopatias mitocondriais.

Acta Médica Portuguesa, 1994
Mitochondrial Encephalomyopathies are primary disorders of energy metabolism recently described. They are the result of mitochondrial abnormalities with a wide spectrum of syndromes implying a multisystemic but predominantly muscular and cerebral ...
R Almeida, A Sena, M Gonçalves
doaj   +1 more source

Modeling mitochondrial encephalomyopathy in Drosophila

Neurobiology of Disease, 2010
Mitochondrial encephalomyopathies are disturbingly complex and devastating diseases, reflecting the underlying importance of the affected organelle.
Michael J. Palladino
doaj   +1 more source

Mitochondrial neurogastrointestinal encephalomyopathy in china: a novel TYMP variant and comprehensive clinical-genetic insights. [PDF]

Orphanet J Rare Dis
Xu X, Xia J, Xu F, Wang M, Yang L, Chen X.   +5 more
europepmc   +3 more sources

Small mitochondrial-targeted RNAs modulate endogenous mitochondrial protein expression in vivo

Neurobiology of Disease, 2014
Endogenous mitochondrial genes encode critical oxidative phosphorylation components and their mutation results in a set of disorders known collectively as mitochondrial encephalomyopathies. There is intensive interest in modulating mitochondrial function
Atif Towheed, Desiree M. Markantone, Aaron T. Crain, Alicia M. Celotto, Michael J. Palladino   +4 more
doaj   +1 more source

Novel taurine-containing uridine derivatives and mitochondrial human diseases [PDF]

, 1905
Two novel modified uridines were identified from mammalian mitochondrial (mt) tRNAs. Mass spectrometric analysis revealed that they are modified uridines possessing a sulfonic acid group derived from taurine; 5-taurinomethyluridine from mt tRNAs for Trp ...
747, 748, 749, 750, 751, Saigo, Kazuhiko, Suzuki, Takeo, Suzuki, Tsutomu, Wada, Takeshi, Watanabe, Kimitsuna   +9 more
core   +1 more source

Mitochondrial myopathy and myoclonic epilepsy

Arquivos de Neuro-Psiquiatria, 1990
The authors describe a family (mother, son and two daughters) with mitochondrial myopathy. The mother was asymptomatic. Two daughters had lactic acidosis and myoclonic epilepsy, mild dementia, ataxia, weakness and sensory neuropathy. The son suffered one
Walter O. Arruda, Luiz F. B. Torres, Anne lombes, Salvatore Dimauro, Belkiss A. Cardoso, Hélio A. G. Teive, Duilton de Paola, Ricardo R. Seixas   +7 more
doaj   +1 more source

Different Phenotypes Caused by the Unique Mutation in the Same Family with Mitochondrial Encephalomyopathy

BioMedica, 2020
Background and Objective:  Mitochondrial encephalomyopathies represent a clinically heterogeneous group of disorders resulting from abnormal mitochondrial function.
Hai-ping Xia, Feng-Nan Niu, Biao Jin, Kang-ren Zhao Zhao, Rui Ma, Ming Yu   +5 more
doaj   +1 more source

Disease network data for the pesticide fipronil in rat dopamine cells

Data in Brief, 2021
Transcriptome data were collected in rat dopamine cells exposed to fipronil for 24 h using microarray analysis. Fipronil is a phenylpyrazole pesticide that acts to inhibit gamma-aminobutyric acid (GABA), blocking inhibitory synaptic transmission in the ...
Christopher L. Souders II, Anna Rushin, Christina L. Sanchez, Darby Toth, Ondrej Adamovsky, Christopher J. Martyniuk   +5 more
doaj   +1 more source

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder [PDF]

, 2015
Background: Mitochondrial disease is often suspected in cases of severe epileptic encephalopathy especially when a complex movement disorder, liver involvement and progressive developmental regression are present.
Collins, Abigail E, Coughlin, Curtis R, II, Creadon-Swindell, Geralyn, Friederich, Marisa W, Geiger, Elizabeth A, Minczuk, Michal, Powell, Christopher A, Scharer, Gunter H, Shaikh, Tamim H, Swanson, Michael A, Van Coster, Rudy, Van Hove, Johan LK, Vanlander, Arnaud, Yu, Hung-Chun   +13 more
core   +2 more sources

Kearns-Sayre syndrome: An unusual ophthalmic presentation

Oman Journal of Ophthalmology, 2012
Kearns-Sayre syndrome (KSS) belongs to the group of neuromuscular disorders known as mitochondrial encephalomyopathies. It has characteristic syndromal features, which include: chronic progressive external ophthalmoplegia, bilateral atypical pigmentary ...
Syed S Ahmad, Shuaibah A Ghani
doaj   +1 more source