Results 201 to 210 of about 3,285 (240)
Some of the next articles are maybe not open access.
Mitochondrial encephalomyopathies
Current Opinion in Neurology, 1998It is nearly a decade since the discovery of the first mutations in mitochondrial DNA associated with mitochondrial encephalomyopathy, and the pace of discovery of new mitochondrial DNA mutations continues unabated. Nuclear gene defects in these disorders have been more difficult to identify; only one is known, but others have been mapped by linkage ...
openaire +2 more sources
[Mitochondrial encephalomyopathies].
Annales de pathologie, 2006Mitochondrial encephalomyopathies include various syndromes involving both muscles and the nervous system. They are characterized by morphological and/or functional mitochondrial abnormalities. Relevant histological modifications in muscle are ragged-red fibers with or without cytochrome C oxidase (COX) activity.
Jacqueline, Mikol, Marc, Polivka
openaire +3 more sources
Autophagy and Mitochondrial Encephalomyopathies
2020Mitochondrial encephalomyopathies are a group of disorders affecting skeletal muscles and brain. Although the symptoms vary among these disorders, mitochondrial DNA mutation or loss is the common characteristic. The abnormality of mitochondrial genome usually causes the dysfunction of mitochondrial respiratory and even mitochondrial damage.
Xiangnan, Zhang +2 more
openaire +2 more sources
[Mitochondrial encephalomyopathy].
Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 1990Modern concepts regarding mitochondrial encephalomyopathies (ME) are summarized. Utilizing recent techniques of molecular biology we studied some cases of ME referred to the Institute of Clinical Neurology of Milan University. With these techniques we demonstrated different mitochondrial DNA deletions either in patients' muscle or in culture.
T, Ozawa, M, Tanaka
openaire +3 more sources
Mitochondrial encephalomyopathies: an update
Neuromuscular Disorders, 2005A genetic classification of the mitochondrial encephalomyopathies includes disorders due to defects of mitochondrial DNA (mtDNA) and disorders due to defects of nuclear DNA (nDNA). Recent progress in mtDNA-related diseases includes: (i) new pathogenic mutations in protein-coding genes, especially those encoding subunits of complex I (ND genes); (ii ...
Salvatore, DiMauro, Michio, Hirano
openaire +2 more sources
Mitochondrial myopathies and encephalomyopathies
European Journal of Clinical Investigation, 1999Defects of mitochondrial metabolism result in a wide variety of human disorders, which can present at any time from infancy to late adulthood and involve virtually any tissue either alone or in combination. Abnormalities of the electron transport and oxidative phosphorylation (OXPHOS) system are probably the most common cause of mitochondrial diseases.
A H, Schapira, H R, Cock
openaire +2 more sources
Mitochondrial encephalomyopathy
Neurology, 1984We describe a 29-year-old man with mitochondrial encephalomyopathy. The patient's disorder was characterized by lactic acidosis, hemiparesis, seizures, aphasia, and hemianopia. CT revealed low-density areas that corresponded to the symptoms. His 56-year-old mother is also involved subclinically, demonstrating that muscle biopsy is an important ...
T, Yamamoto, H, Beppu, T, Tsubaki
openaire +2 more sources
Mitochondrial encephalomyopathies
2010Abstracts and keywords to be supplied.
P F Chinnery, D M Turnbull
openaire +1 more source
[Mitochondrial encephalomyopathies].
Acta medica portuguesa, 1994Mitochondrial 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 involvement.
R, Almeida, A, Sena, M, Gonçalves
openaire +1 more source
[Mitochondrial neurogastrointestinal encephalomyopathy].
Journal of neuroradiology = Journal de neuroradiologie, 2008This paper describes MRI aspects of a leukodystrophy due to the Mitochondrial Neurogastrointestinal Encephalomyopathy syndrome in an adolescent girl investigated for nocturnal recurrent emesis leading to major cachexia.
P, Rousset +5 more
openaire +1 more source