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Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism

American journal of human genetics, 2010-09, Vol.87 (3), p.410-417

2010

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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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Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

Nature genetics, 2001-08, Vol.28 (4), p.350-354

2001

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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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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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Fibroblasts rescue oral squamous cancer cell from metformin-induced apoptosis via alleviating metabolic disbalance and inhibiting AMPK pathway

Cell cycle (Georgetown, Tex.), 2019-05, Vol.18 (9), p.949-962

2019

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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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Application of Flow Cytometric Analysis for Measuring Multiple Mitochondrial Parameters in 3D Brain Organoids

Journal of visualized experiments, 2023-08 (198)

2023

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Molecular pathogenesis of polymerase gamma-related neurodegeneration

Annals of neurology, 2014-07, Vol.76 (1), p.66-81

2014

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Neurofilament light chain predicts disease activity in relapsing-remitting MS

Neurology : neuroimmunology & neuroinflammation, 2018-01, Vol.5 (1), p.e422-e422

2018

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A characteristic occipital epileptiform EEG pattern in ADCK3‐related mitochondrial disease

Epileptic disorders, 2021-04, Vol.23 (2), p.281-290

2021

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Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

Human molecular genetics, 2016-03, Vol.25 (5), p.1031-1041

2016

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Dissecting the neuronal vulnerability underpinning Alpers’ syndrome: a clinical and neuropathological study

Brain pathology (Zurich, Switzerland), 2019-01, Vol.29 (1), p.97-113

2019

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Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin

American journal of human genetics, 2005-09, Vol.77 (3), p.430-441

2005

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OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

Human molecular genetics, 2010-08, Vol.19 (15), p.3043-3052

2010

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Melas associated with mutations in the polg1 gene

Neurology, 2008-03, Vol.70 (13), p.1054; author reply 1054-1055

2008

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Phenotype modulators in myophosphorylase deficiency

Annals of neurology, 2003-04, Vol.53 (4), p.497-502

2003

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Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria

Human molecular genetics, 2003-09, Vol.12 (18), p.2341-2348

2003

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Risk of developing a mitochondrial DNA deletion disorder

The Lancet (British edition), 2004-08, Vol.364 (9434), p.592-596

2004

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A recessive ataxia diagnosis algorithm for the next generation sequencing era

Annals of neurology, 2017-12, Vol.82 (6), p.892-899

2017

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Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNALeu(UUR)) gene

Nucleic acids research, 2006-12, Vol.34 (22), p.6404-6415

2006

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Reversal of a mitochondrial DNA defect in human skeletal muscle

Nature genetics, 1997-07, Vol.16 (3), p.222-224

1997

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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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Mitochondrial disease caused by the m.3243A>G mutation

Tidsskrift for den Norske Lægeforening, 2022-06, Vol.142 (10)

2022

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Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism

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

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

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

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

Fibroblasts rescue oral squamous cancer cell from metformin-induced apoptosis via alleviating metabolic disbalance and inhibiting AMPK pathway

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

Application of Flow Cytometric Analysis for Measuring Multiple Mitochondrial Parameters in 3D Brain Organoids

Molecular pathogenesis of polymerase gamma-related neurodegeneration

Neurofilament light chain predicts disease activity in relapsing-remitting MS

A characteristic occipital epileptiform EEG pattern in ADCK3‐related mitochondrial disease

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

Dissecting the neuronal vulnerability underpinning Alpers’ syndrome: a clinical and neuropathological study

Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

Melas associated with mutations in the polg1 gene

Phenotype modulators in myophosphorylase deficiency

Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria

Risk of developing a mitochondrial DNA deletion disorder

A recessive ataxia diagnosis algorithm for the next generation sequencing era

Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNALeu(UUR)) gene

Reversal of a mitochondrial DNA defect in human skeletal muscle

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

Mitochondrial disease caused by the m.3243A>G mutation

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