Results 41 to 50 of about 1,539,228 (134)
Endocrine Connections, 2023 Mitochondrial diseases are a group of rare diseases presenting with heterogeneous clinical, biochemical, and genetic disorders caused by mutations in the mitochondrial or nuclear genome.
Nam Quang Tran +4 more
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Frontiers in Neurology, 2022 Mitochondrial myopathy encephalopathy lactic acidosis and stroke-like episodes (MELAS) is an important cause of stroke-mimicking diseases that predominantly affect patients before 40 years of age. MELAS results from gene mutations in either mitochondrial
Weiqin Cheng, Yuting Zhang, Ling He
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Journal of Orthopaedic Surgery, 2016 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) syndrome is a progressive multisystemic neurodegenerative disorder. MELAS syndrome impairs oxidative phosphorylation and predisposes patients to lactic acidosis, particularly ...
Kwong Weng Loh +4 more
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Mitochondrial diabetes and mitochondrial DNA mutation load in MELAS syndrome
, 2020 Objective: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a very rare condition; it encompasses a diverse group of disorders including diabetes.
나지훈 +7 more
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, 2016 International audienceWith interest we read the article by Thomas et al. about a 44 year oldfemale with MELAS syndrome due to the m.3243ANG mutation,which manifested cardiologically as hypertrophic cardiomyopathy andepisodes of supraventricular ...
Josef Finsterer +3 more
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The expanding phenotype of MELAS caused by the m.3291T>C mutation in the MT-TL1 gene
Molecular Genetics and Metabolism Reports, 2016 m.3291T>C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In the
E. Keilland +5 more
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Advanced Science, EarlyView.Mitochondrial quality control (MQC) collapse redefines osteoarthritis, intervertebral disc degeneration, and osteoporosis as disorders of organelle dysfunction. Damaged mitochondria leak mtDNA and metabolites, driving cGAS‐STING inflammation, epigenetic reprogramming, and metabolic memory.
Haiyang Gao +7 more
wiley +1 more source
Invasive aspergillosis in a patient with MELAS syndrome
, 2000 Invasive infection with the opportunistic fungus Aspergillus fumigatus predominantly affects people with impaired cell mediated immunity. The case of a 31 year old woman with no identified cause for immunosuppression who presented with severe refractory ...
McKee, D. H. +3 more
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Cochlear implantation in patients with MELAS syndrome
MELAS syndrome ( mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) is a rare congenital disorder of mitochondrial DNA (mt-DNA).
Johnson IJ, Anari S, Karkos PD
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Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source