MELAS Syndrome Latest Advances

Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes: A Masquerader of Young-onset Stroke.

Journal: The Journal of the Association of Physicians of India

Published: November 26, 2025

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes.

Journal: Journal of visualized experiments : JoVE

Published: October 27, 2025

Fatal Methaemoglobin Intoxication Following Ketamine Infusion in a Depressed MELAS Patient: A Possible Association?

Journal: Case reports in critical care

Published: September 25, 2025

Autosomal recessive Alport syndrome should be diagnosed in an m.3243A>G carrier only if a pathogenic COL4A3 variant has been detected.

Journal: Internal medicine (Tokyo, Japan)

Published: September 03, 2025

Response to "Diagnose autosomal recessive Alport syndrome in an m.3243A>G carrier only if a pathogenic COL4A3 variant has been detected".

Journal: Internal medicine (Tokyo, Japan)

Published: September 03, 2025

Expansion of the Phenotypic Spectrum of MNGIE: Lipodystrophy and Metabolic Alterations Associated with a p.Arg393_Val400dup TYMP Variant.

Journal: International journal of molecular sciences

Published: August 12, 2025

Mitochondrial DNA A3243G variant: Current perspectives and clinical implications.

Journal: Intractable & rare diseases research

Published: August 09, 2025

Isolated cytochrome c oxidase deficiency as a cause of MELAS.

Journal: BMJ case reports

Published: August 08, 2025

Gut instinct: microbiome as a modifiable target in the management of neurologic symptoms in myoclonic epilepsy with ragged-red fibers (MERRF).

Journal: Annals of medicine and surgery (2012)

Published: August 07, 2025

Clinical and Intestinal Ultrasound Findings in Mitochondrial Neurogastrointestinal Encephalomyopathy:Report of One Case.

Journal: Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae

Published: August 04, 2025

Atypical clinical manifestation of MT-TL1 mutation in 6 months old patient.

Journal: Acta neurologica Belgica

Published: August 04, 2025

Perioperative Care of a Child With Combined Oxidative Phosphorylation Deficiency 6: Total Intravenous Anesthesia With Remimazolam.

Journal: Journal of medical cases

Published: July 31, 2025

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Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes: A Masquerader of Young-onset Stroke.

Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes: A Masquerader of Young-onset Stroke.

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes.

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes.

Fatal Methaemoglobin Intoxication Following Ketamine Infusion in a Depressed MELAS Patient: A Possible Association?

Fatal Methaemoglobin Intoxication Following Ketamine Infusion in a Depressed MELAS Patient: A Possible Association?

Autosomal recessive Alport syndrome should be diagnosed in an m.3243A>G carrier only if a pathogenic COL4A3 variant has been detected.

Autosomal recessive Alport syndrome should be diagnosed in an m.3243A>G carrier only if a pathogenic COL4A3 variant has been detected.

Response to "Diagnose autosomal recessive Alport syndrome in an m.3243A>G carrier only if a pathogenic COL4A3 variant has been detected".

Response to "Diagnose autosomal recessive Alport syndrome in an m.3243A>G carrier only if a pathogenic COL4A3 variant has been detected".

Expansion of the Phenotypic Spectrum of MNGIE: Lipodystrophy and Metabolic Alterations Associated with a p.Arg393_Val400dup TYMP Variant.

Expansion of the Phenotypic Spectrum of MNGIE: Lipodystrophy and Metabolic Alterations Associated with a p.Arg393_Val400dup TYMP Variant.

Mitochondrial DNA A3243G variant: Current perspectives and clinical implications.

Mitochondrial DNA A3243G variant: Current perspectives and clinical implications.

Isolated cytochrome c oxidase deficiency as a cause of MELAS.

Isolated cytochrome c oxidase deficiency as a cause of MELAS.

Gut instinct: microbiome as a modifiable target in the management of neurologic symptoms in myoclonic epilepsy with ragged-red fibers (MERRF).

Gut instinct: microbiome as a modifiable target in the management of neurologic symptoms in myoclonic epilepsy with ragged-red fibers (MERRF).

Clinical and Intestinal Ultrasound Findings in Mitochondrial Neurogastrointestinal Encephalomyopathy:Report of One Case.

Clinical and Intestinal Ultrasound Findings in Mitochondrial Neurogastrointestinal Encephalomyopathy:Report of One Case.

Atypical clinical manifestation of MT-TL1 mutation in 6 months old patient.

Atypical clinical manifestation of MT-TL1 mutation in 6 months old patient.

Perioperative Care of a Child With Combined Oxidative Phosphorylation Deficiency 6: Total Intravenous Anesthesia With Remimazolam.

Perioperative Care of a Child With Combined Oxidative Phosphorylation Deficiency 6: Total Intravenous Anesthesia With Remimazolam.