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Cellular pathophysiology of MELAS syndrome [PDF]
, 2023 MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke- like episodes) syndrome is a rare mitochondrial disorder mainly caused by the m.3243A>G mutation in the mitochondrial DNA. This mutation affects mitochondrial proteins translation, causing a defect in the synthesis of mitochondrial respiratory chain components.
Povea Cabello, Suleva
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Chinese Journal of Contemporary Neurology and Neurosurgery, 2014 doi: 10.3969/j.issn.1672-6731.2014.09 ...
Tong HAN
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Adrenal insufficiency in a child with MELAS syndrome
Brain and Development, 2014 Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) are established subgroups of mitochondrial encephalomyopathy. m.3243A>G a common point mutation is detected in tRNA in majority of patients with MELAS phenotype whereas m.8344A>G point mutation in tRNA is observed, in MERRF phenotype.
Afroze, Bushra +4 more
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Arginine Supplementation in MELAS Syndrome: What Do We Know about the Mechanisms? [PDF]
Int J Mol SciMELAS syndrome, characterized by mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes, represents a devastating mitochondrial disease, with the stroke-like episodes being its primary manifestation. Arginine supplementation has
Barros CDS, Coutinho A, Tengan CH.
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Neurology, 1988 Severe prolonged migrainous symptoms and prolonged partial status epilepticus are characteristic features of the MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). Maternal transmission previously found in myoclonus epilepsy and ragged-red fibers (MERRF), another mitochondrial disease, is suggested in this ...
Montagna, P +7 more
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Differential pathophysiology in MELAS syndrome [PDF]
, 2015 Programa de Doctorado en Biotecnología y Tecnología Química MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) is a mitochondrial disorder caused mainly by the m.3243A>G mutation in mitochondrial DNA. In this thesis, we report on how the severity of pathophysiological alterations is differently expressed in fibroblasts ...
Garrido Maraver, Juan
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Life, 2021 Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, a maternally inherited mitochondrial disorder, is characterized by its genetic, biochemical and clinical complexity.
Hueng-Chuen Fan +3 more
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Multisystem clinicopathologic and genetic analysis of MELAS
Orphanet Journal of Rare DiseasesBackground and objectives Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder that mostly affects the central nervous system and skeletal muscle.
Shuai Xu +5 more
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Total intravenous anesthesia with propofol and remifentanil in a patient with MELAS syndrome -A case report- [PDF]
Korean Journal of Anesthesiology, 2010 A 23-year-old woman with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) underwent a laparoscopy-assisted appendectomy. MELAS syndrome is a multisystemic disease caused by mitochondrial dysfunction.
Jin Suk Park +6 more
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Microhemorrhages in MELAS Lesions: A Case Report
Journal of the Belgian Society of Radiology, 2022 Introduction: Microhemorrhages have not been described in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) on magnetic resonance imaging (MRI).
Evelien Martens +2 more
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