Results 11 to 20 of about 1,539,228 (134)

Cardiac manifestations in adult MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome)– a cross-sectional study [PDF]

open access: yesOrphanet Journal of Rare Diseases
Backround Cardiac involvement has been reported in different mitochondrial geno- and phenotypes, including mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like (MELAS) syndrome.
Dietrich Stoevesandt   +3 more
doaj   +4 more sources

Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature [PDF]

open access: yesMolecular Genetics & Genomic Medicine, 2022
Background Mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes (MELAS) syndrome is one of the most well‐known mitochondrial diseases, with most cases attributed to m.3243A>G.
Lydia M. Seed   +5 more
doaj   +3 more sources

Unraveling an Unusual Phenocopy of Hypertrophic Cardiomyopathy: MELAS Syndrome [PDF]

open access: yesDiagnostics, 2021
The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is an uncommon cause of cardiac hypertrophy, fibrosis, and dysfunction.
Anna B. Reid   +3 more
doaj   +3 more sources

Fahr’s syndrome as the initial imaging characteristics of MELAS syndrome with a possible seizure activity and cardiac arrest: a case report [PDF]

open access: yesFrontiers in Genetics
This study reported a case of MELAS syndrome presenting as the initial imaging characteristics of Fahr’s syndrome with “near” sudden unexpected death in epilepsy (SUDEP) and lateralized periodic discharges (LPD).
Yan Zheng   +7 more
doaj   +4 more sources

Adult-onset of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome with hypothyroidism and psychiatric disorders

open access: yeseNeurologicalSci, 2017
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a clinical syndrome associated with mitochondrial disorders (MIDs). This report illustrates a case of MELAS syndrome with hypothyroidism and psychiatric disorders,
Yu-Xing Ge   +4 more
doaj   +2 more sources

MELAS syndrome complicated by anti-GFAP autoantibody positivity: a case report and literature review [PDF]

open access: yesBMC Neurology
Background Autoimmune abnormalities have been reported in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, but anti-glial fibrillary acidic protein (GFAP) antibody positivity in both serum and cerebrospinal ...
Jun Shu   +5 more
doaj   +2 more sources

Epilepsy and MELAS syndrome: literature review and clinical observation [PDF]

open access: yesЭпилепсия и пароксизмальные состояния, 2023
MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) belongs to the group of mitochondrial diseases. Most MELAS syndrome cases are associated with the A3243G mutation in the MTTL1 gene.
А. М. Teplysheva   +2 more
doaj   +2 more sources

Melas Syndrome

open access: yesPediatric Neurology Briefs, 1987
Melas syndrome consists of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke.
J Gordon Millichap
doaj   +2 more sources

Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body Exposure [PDF]

open access: yesBiomedicines, 2022
(1) Background: The development of mitochondrial medicine has been severely impeded by a lack of effective therapies. (2) Methods: To better understand Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-like episodes (MELAS) syndrome, neuronal ...
Sophie Belal   +23 more
doaj   +2 more sources

Arginine and Citrulline for the Treatment of MELAS Syndrome

open access: yesJournal of Inborn Errors of Metabolism and Screening, 2017
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disease with a broad spectrum of manifestations.
Ayman W. El-Hattab MD, FACMG   +2 more
doaj   +2 more sources

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