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Mitochondrial diseases and epilepsy

Epilepsia (Copenhagen), 2012-09, Vol.53 (s4), p.92-97

2012

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Understanding the Epilepsy in POLG Related Disease

International journal of molecular sciences, 2017-08, Vol.18 (9), p.1845

2017

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A method for differentiating human induced pluripotent stem cells toward functional cardiomyocytes in 96-well microplates

Scientific reports, 2020-10, Vol.10 (1), p.18498-18498, Article 18498

2020

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Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration

Biomedicines, 2021-07, Vol.9 (7), p.833

2021

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Utility and limitations of EEG in the diagnosis and management of ALDH7A1 -related pyridoxine-dependent epilepsy. A retrospective observational study

Frontiers in neurology, 2024-02, Vol.15, p.1355861-1355861

2024

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Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16

International journal of molecular sciences, 2021-05, Vol.22 (11), p.5870

2021

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PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1 -deficient patients

Frontiers in pharmacology, 2023-07, Vol.14, p.1220620-1220620

2023

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Consensus-based statements for the management of mitochondrial stroke-like episodes

Wellcome open research, 2019, Vol.4, p.201-201

2019

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Nicotinamide Riboside and Metformin Ameliorate Mitophagy Defect in Induced Pluripotent Stem Cell-Derived Astrocytes With POLG Mutations

Frontiers in cell and developmental biology, 2021-09, Vol.9, p.737304-737304

2021

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Distinct Mitochondrial Remodeling During Mesoderm Differentiation in a Human-Based Stem Cell Model

Frontiers in cell and developmental biology, 2021-10, Vol.9, p.744777-744777

2021

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HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia

Proceedings of the National Academy of Sciences - PNAS, 2015-05, Vol.112 (18), p.E2268-E2268

2015

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Mitochondrial disease in adults: recent advances and future promise

Lancet neurology, 2021-07, Vol.20 (7), p.573-584

2021

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Renal Phenotype in Mitochondrial Diseases: A Multicenter Study

Kidney diseases, 2022-01, Vol.8 (2), p.148-159

2022

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Deoxyribonucleoside treatment rescues EtBr‐induced mtDNA depletion in iPSC‐derived neural stem cells with POLG mutations

The FASEB journal, 2023-09, Vol.37 (9), p.e23139-n/a

2023

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The impact of gender, puberty, and pregnancy in patients with POLG disease

Annals of clinical and translational neurology, 2020-10, Vol.7 (10), p.2019-2025

2020

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No effect of electrical transcranial direct current stimulation adjunct treatment for epilepsia partialis continua in POLG disease

Epilepsy & behavior reports, 2019-01, Vol.12, p.100339-100339, Article 100339

2019

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Comparing the mitochondrial signatures in ESCs and iPSCs and their neural derivations

Cell cycle (Georgetown, Tex.), 2022-10, Vol.21 (20), p.2206-2221

2022

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Metabolic reprogramming of normal oral fibroblasts correlated with increased glycolytic metabolism of oral squamous cell carcinoma and precedes their activation into carcinoma associated fibroblasts

Cellular and molecular life sciences : CMLS, 2020-03, Vol.77 (6), p.1115-1133

2020

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POLG genotype influences degree of mitochondrial dysfunction in iPSC derived neural progenitors, but not the parent iPSC or derived glia

Experimental neurology, 2023-07, Vol.365, p.114429-114429, Article 114429

2023

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N-acetylcysteine amide ameliorates mitochondrial dysfunction and reduces oxidative stress in hiPSC-derived dopaminergic neurons with POLG mutation

Experimental neurology, 2021-03, Vol.337, p.113536-113536, Article 113536

2021

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Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

Journal of inherited metabolic disease, 2020-07, Vol.43 (4), p.726-736

2020

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Nigrostriatal denervation sine parkinsonism

Brain (London, England : 1878), 2016-04, Vol.139 (Pt 4), p.e25-e25

2016

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POLG mutations lead to abnormal mitochondrial remodeling during neural differentiation of human pluripotent stem cells via SIRT3/AMPK pathway inhibition

Cell cycle (Georgetown, Tex.), 2022-06, Vol.21 (11), p.1178-1193

2022

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Flow Cytometric Analysis of Multiple Mitochondrial Parameters in Human Induced Pluripotent Stem Cells and Their Neural and Glial Derivatives

Journal of visualized experiments, 2021-11 (177)

2021

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3,3'-Diaminobenzidine staining interferes with PCR-based DNA analysis

Scientific reports, 2018-01, Vol.8 (1), p.1272-8, Article 1272

2018

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Mitochondrial diseases and epilepsy

Understanding the Epilepsy in POLG Related Disease

A method for differentiating human induced pluripotent stem cells toward functional cardiomyocytes in 96-well microplates

Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration

Utility and limitations of EEG in the diagnosis and management of ALDH7A1 -related pyridoxine-dependent epilepsy. A retrospective observational study

Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16

PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1 -deficient patients

Consensus-based statements for the management of mitochondrial stroke-like episodes

Nicotinamide Riboside and Metformin Ameliorate Mitophagy Defect in Induced Pluripotent Stem Cell-Derived Astrocytes With POLG Mutations

Distinct Mitochondrial Remodeling During Mesoderm Differentiation in a Human-Based Stem Cell Model

HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia

Mitochondrial disease in adults: recent advances and future promise

Renal Phenotype in Mitochondrial Diseases: A Multicenter Study

Deoxyribonucleoside treatment rescues EtBr‐induced mtDNA depletion in iPSC‐derived neural stem cells with POLG mutations

The impact of gender, puberty, and pregnancy in patients with POLG disease

No effect of electrical transcranial direct current stimulation adjunct treatment for epilepsia partialis continua in POLG disease

Comparing the mitochondrial signatures in ESCs and iPSCs and their neural derivations

Metabolic reprogramming of normal oral fibroblasts correlated with increased glycolytic metabolism of oral squamous cell carcinoma and precedes their activation into carcinoma associated fibroblasts

POLG genotype influences degree of mitochondrial dysfunction in iPSC derived neural progenitors, but not the parent iPSC or derived glia

N-acetylcysteine amide ameliorates mitochondrial dysfunction and reduces oxidative stress in hiPSC-derived dopaminergic neurons with POLG mutation

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

Nigrostriatal denervation sine parkinsonism

POLG mutations lead to abnormal mitochondrial remodeling during neural differentiation of human pluripotent stem cells via SIRT3/AMPK pathway inhibition

Flow Cytometric Analysis of Multiple Mitochondrial Parameters in Human Induced Pluripotent Stem Cells and Their Neural and Glial Derivatives

3,3'-Diaminobenzidine staining interferes with PCR-based DNA analysis

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