Results 141 to 150 of about 6,956 (184)

Mitochondrial Encephalomyopathies

Annals of the New York Academy of Sciences, 2004
Abstract: Therapy for mitochondrial diseases is woefully inadequate. How‐ever, lack of cure does not equate with lack of treatment. In this review, we consider sequentially several different therapeutic approaches. Palliative therapy is dictated by good medical practice and includes anticonvulsant medication, control of endocrine dysfunction, and ...
DiMauro S., Mancuso M., Naini A.
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Stem Cell-Derived Mitochondria Transplantation: A Promising Therapy for Mitochondrial Encephalomyopathy [PDF]

CNS Neuroscience and Therapeutics, 2021
Kai-Ming Liu, Lining Zhang, Zhijian Zhou
exaly   +2 more sources

Mitochondrial Encephalomyopathies

Neurologic Clinics, 1988
Mitochondrial encephalomyopathies are neurodegenerative disorders characterized by ragged-red myopathy and encephalopathy, which are recognized with increasing frequency. This article presents the clinical features; pertinent historical, biochemical, and genetic aspects; evaluation; and treatment of mitochondrial encephalomyopathies of childhood and ...
P L, Peterson, M E, Martens, C P, Lee
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Mitochondrial Encephalomyopathies☆

2009
Increasingly numerous studies are being devoted to mitochondrial diseases, notably those which involve the neuromuscular system. Our knowledge and understanding of these diseases is progressing rapidly. We owe to Luft et al. (1962) the first description of this type of diseases.
A, Lombes, E, Bonilla, S, Dimauro
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Autophagy and Mitochondrial Encephalomyopathies

2020
Mitochondrial 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, Yanrong, Zheng, Zhong, Chen   +2 more
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Diagnosis of the mitochondrial encephalomyopathies

Current Opinion in Rheumatology, 1997
In few fields of medicine has recent progress been as fast and exciting as in the area of mitochondrial diseases. Although the clinical manifestations of mitochondrial dysfunction are extremely variable, biochemical and genetic classification of these disorders is now possible and recent advances in morphologic analysis and genetic testing aid in the ...
S, Shanske, S, DiMauro
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Mitochondrial encephalomyopathies: an update

Neuromuscular Disorders, 2005
A 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
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Mitochondrial myopathies and encephalomyopathies

European Journal of Clinical Investigation, 1999
Defects 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
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[Mitochondrial encephalomyopathies].

Annales de pathologie, 2006
Mitochondrial 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

Mitochondrial encephalomyopathy

Neuropathology, 2000
Mitochondrial encephalomyopathy is a disease based on multisystemic mitochondrial dysfunction. Pathologic, biochemical and molecular genetic approaches to the disease have revealed the complex features of the phenotype and its relationship to the genotype.
openaire   +4 more sources