Results 211 to 220 of about 483,484 (261)
Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome. [PDF]
Orphanet J Rare DisAmbrose A +7 more
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Mechanisms and Future Research Perspectives on Mitochondrial Diseases Associated with Isoleucyl-tRNA Synthetase Gene Mutations. [PDF]
Genes (Basel)Watanabe M, Sasaki N.
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Demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases: a retrospective cross-sectional study. [PDF]
Orphanet J Rare DisZhao X +5 more
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DISEASES OF THE MITOCHONDRIAL DNA
Annual Review of Biochemistry, 1992INTRODUCTION . . _ . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 175 THE HUMAN MITOCHONDRIAL DNA AND OXIDATIVE PHOSPHORYLATION 1176 Mitochondrial Biogenesis ... 1 176 Mitochondrial OXPHOS Complexes and their Synthesis 1 178 Developmental Regulation of Nuclear OXPHOS Genes ...
Douglas Wallace
exaly +3 more sources
Best Practice & Research Clinical Obstetrics & Gynaecology, 2002
Mitochondrial disorders are caused by deficient respiratory chain function, resulting in a complex series of pathophysiological events. Genetic counselling is complicated because the respiratory chain subunits are encoded by both nuclear and mitochondrial DNA genes.
Graff, C., Bui, T., Larsson, N.
openaire +5 more sources
Mitochondrial disorders are caused by deficient respiratory chain function, resulting in a complex series of pathophysiological events. Genetic counselling is complicated because the respiratory chain subunits are encoded by both nuclear and mitochondrial DNA genes.
Graff, C., Bui, T., Larsson, N.
openaire +5 more sources
Current Treatment Options in Neurology, 2001
Mitochondrial diseases are disorders of energy metabolism that include defects of pyruvate metabolism, Krebs cycle, respiratory chain (RC), and fatty acid oxidation (FAO). Treatment of pyruvate metabolism, Krebs cycle, and RC disorders is, in general, disappointing.
Roser, Pons, Darryl C., De Vivo
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Mitochondrial diseases are disorders of energy metabolism that include defects of pyruvate metabolism, Krebs cycle, respiratory chain (RC), and fatty acid oxidation (FAO). Treatment of pyruvate metabolism, Krebs cycle, and RC disorders is, in general, disappointing.
Roser, Pons, Darryl C., De Vivo
openaire +2 more sources
2018
Mitochondrial diseases collectively describe a diverse group of heritable disorders that invariably affect mitochondrial respiratory chain function and cellular energy production. Together they represent the most common cause of inherited metabolic disease, may present at any age, have a wide spectrum of clinical manifestations, may be insidious in ...
Ryan L, Davis +2 more
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Mitochondrial diseases collectively describe a diverse group of heritable disorders that invariably affect mitochondrial respiratory chain function and cellular energy production. Together they represent the most common cause of inherited metabolic disease, may present at any age, have a wide spectrum of clinical manifestations, may be insidious in ...
Ryan L, Davis +2 more
openaire +4 more sources
Neurologic Clinics, 1989
Mitochondrial diseases, and particularly mitochondrial myopathies or encephalomyopathies, have drawn increasing attention in the past decade. Initially defined by morphologic changes in muscle ("ragged red fibers" and ultrastructural abnormalities of mitochondria), mitochondrial encephalomyopathies can now be classified according to biochemical defects
M, Zeviani +3 more
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Mitochondrial diseases, and particularly mitochondrial myopathies or encephalomyopathies, have drawn increasing attention in the past decade. Initially defined by morphologic changes in muscle ("ragged red fibers" and ultrastructural abnormalities of mitochondria), mitochondrial encephalomyopathies can now be classified according to biochemical defects
M, Zeviani +3 more
openaire +2 more sources
The Lancet, 2006
Defects of mitochondrial metabolism cause a wide range of human diseases that include examples from all medical subspecialties. This review updates the topic of mitochondrial diseases by reviewing the most important recent advances in this area. The factors influencing inheritance, maintenance and replication of mtDNA are reviewed and the genotype ...
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Defects of mitochondrial metabolism cause a wide range of human diseases that include examples from all medical subspecialties. This review updates the topic of mitochondrial diseases by reviewing the most important recent advances in this area. The factors influencing inheritance, maintenance and replication of mtDNA are reviewed and the genotype ...
openaire +3 more sources
Mitochondrial Diseases in Childhood
Current Molecular Medicine, 2014Mitochondrial disorders are a group of heterogeneous diseases associated with abnormalities of the oxidative phosphorylation (OXPHOS), the most important source of energy for the cell. The number of mitochondrial syndromes and of identified causative genes is constantly increasing.
Ardissone A. +6 more
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