Results 261 to 270 of about 543,462 (281)
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Neurologic Clinics, 2002
Since the first reports of disorders associated with mitochondrial DNA (mtDNA) defects more than a decade ago, the small mtDNA circle has been a Pandora's box of pathogenic mutations associated with human diseases. The "morbidity map" of mtDNA has gone from one point mutation and a few deletions in 1988 to more than 110 point mutations as of September,
Tuan H, Vu +2 more
openaire +5 more sources
Since the first reports of disorders associated with mitochondrial DNA (mtDNA) defects more than a decade ago, the small mtDNA circle has been a Pandora's box of pathogenic mutations associated with human diseases. The "morbidity map" of mtDNA has gone from one point mutation and a few deletions in 1988 to more than 110 point mutations as of September,
Tuan H, Vu +2 more
openaire +5 more sources
2018
Mitochondrial disorders represent a major challenge in medicine. Most of the mitochondrial proteins are encoded by the nuclear DNA (nDNA), whereas a very small fraction is encoded by the mitochondrial DNA (mtDNA). Mutations in mtDNA or mitochondria-related nDNA genes can result in mitochondrial dysfunction.
Maria J, Molnar, Gabor G, Kovacs
+6 more sources
Mitochondrial disorders represent a major challenge in medicine. Most of the mitochondrial proteins are encoded by the nuclear DNA (nDNA), whereas a very small fraction is encoded by the mitochondrial DNA (mtDNA). Mutations in mtDNA or mitochondria-related nDNA genes can result in mitochondrial dysfunction.
Maria J, Molnar, Gabor G, Kovacs
+6 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
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 +3 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 +4 more sources
Mitochondrial diseases: genetics
BioFactors, 1998According to the now widely-accepted endosymbiont hypothesis, mitochondria are the descendents of a bacterium that was “captured” early in evolution by a proto-eukaryote. Accordingly, this organelle is about the size of a bacterium (i.e., between 1–10 microns), and has many bacteria-like features.
E A, Schon, M H, Grossman
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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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The Mitochondrial Genome And Human Mitochondrial Diseases
Journal of the Peripheral Nervous System, 2002To date, more than 100 point mutations and several hundreds of structural rearrangements of mitochondrial DNA (mtDNA) are known too be connected with characteristic neuromuscular and other mitochondrial syndromes varying from those causing death at the neonatal stage to diseases with late ages of onset. The immediate cause of mitochondrial disorders is
R I, Sukernik +8 more
openaire +2 more sources
2021
Abstract Primary mitochondrial diseases are a heterogeneous group of disorders that result from defects of the oxidative phosphorylation system of the mitochondria. Often underrecognized, mitochondrial diseases are uncommon (estimated incidence, 1 in 10,000 live births). Mitochondria are double-membrane–bound cytoplasmic organelles whose
Radhika Dhamija +2 more
openaire +1 more source
Abstract Primary mitochondrial diseases are a heterogeneous group of disorders that result from defects of the oxidative phosphorylation system of the mitochondria. Often underrecognized, mitochondrial diseases are uncommon (estimated incidence, 1 in 10,000 live births). Mitochondria are double-membrane–bound cytoplasmic organelles whose
Radhika Dhamija +2 more
openaire +1 more source
2014
Mitokondrial DNA'ın (mtDNA), farklı patolojik defektleri, hastalarda farklı bozukluklara neden olur. Genellikle yaşamın erken döneminde ortaya çıkan bu progresif hastalıklar multiorgan tutulumu ile karakterizedir ve bu durum tanıyı zorlaştırır.
Djillali Annane, Diane Friedman
+5 more sources
Mitokondrial DNA'ın (mtDNA), farklı patolojik defektleri, hastalarda farklı bozukluklara neden olur. Genellikle yaşamın erken döneminde ortaya çıkan bu progresif hastalıklar multiorgan tutulumu ile karakterizedir ve bu durum tanıyı zorlaştırır.
Djillali Annane, Diane Friedman
+5 more sources