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Last Updated: 10/31/2025

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Found 31 publications

Characterization of two iPSC lines from patients with maternally inherited leigh (MILS) and neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome carrying the MT-ATP6 m.8993 T>G mutation at different degrees of heteroplasmy.

Characterization of two iPSC lines from patients with maternally inherited leigh (MILS) and neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome carrying the MT-ATP6 m.8993 T>G mutation at different degrees of heteroplasmy.

Journal: Stem cell research
Published: July 26, 2024

Schizophrenia-Like Psychotic Symptoms Associated to Leigh Syndrome.

Schizophrenia-Like Psychotic Symptoms Associated to Leigh Syndrome.

Journal: Case reports in psychiatry
Published: July 05, 2023

Generation of two mother-child pairs of iPSCs from maternally inherited Leigh syndrome patients with m.8993 T > G and m.9176 T > G MT-ATP6 mutations.

Generation of two mother-child pairs of iPSCs from maternally inherited Leigh syndrome patients with m.8993 T > G and m.9176 T > G MT-ATP6 mutations.

Journal: Stem cell research
Published: December 22, 2022

Heteroplasmic Mutant Load Differences in Mitochondrial DNA-Associated Leigh Syndrome.

Heteroplasmic Mutant Load Differences in Mitochondrial DNA-Associated Leigh Syndrome.

Journal: Pediatric neurology
Published: April 01, 2022

Intractable Epilepsy in Maternally Inherited Leigh Syndrome (MILS) Due to the Sporadic Variant m.8993T>G in MT-ATP6: A Case Report.

Intractable Epilepsy in Maternally Inherited Leigh Syndrome (MILS) Due to the Sporadic Variant m.8993T>G in MT-ATP6: A Case Report.

Journal: Cureus
Published: February 28, 2022

Generation of four iPSC lines from four patients with Leigh syndrome carrying homoplasmic mutations m.8993T > G or m.8993T > C in the mitochondrial gene MT-ATP6.

Generation of four iPSC lines from four patients with Leigh syndrome carrying homoplasmic mutations m.8993T > G or m.8993T > C in the mitochondrial gene MT-ATP6.

Journal: Stem cell research
Published: February 06, 2022

Mitochondrial Retinopathies.

Mitochondrial Retinopathies.

Journal: International journal of molecular sciences
Published: November 17, 2021

Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation.

Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation.

Journal: Frontiers in neurology
Published: August 03, 2021

Deregulating mitochondrial metabolite and ion transport has beneficial effects in yeast and human cellular models for NARP syndrome.

Deregulating mitochondrial metabolite and ion transport has beneficial effects in yeast and human cellular models for NARP syndrome.

Journal: Human molecular genetics
Published: April 04, 2019

Phenotypic spectrum of maternally inherited Leigh Syndrome associated with the m.8993T>G variant.

Phenotypic spectrum of maternally inherited Leigh Syndrome associated with the m.8993T>G variant.

Journal: Molecular genetics and metabolism reports
Published: April 11, 2018

Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome.

Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome.

Journal: Molecular genetics and metabolism
Published: February 01, 2018

3697G>A in MT-ND1 is a causative mutation in mitochondrial disease.

3697G>A in MT-ND1 is a causative mutation in mitochondrial disease.

Journal: Mitochondrion
Published: January 12, 2016
Showing 1-12 of 31

Last Updated: 10/31/2025