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Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease

Nature communications, 2016-11, Vol.7 (1), p.13548-11, Article 13548

2016

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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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A multicenter study on Leigh syndrome: disease course and predictors of survival

Orphanet journal of rare diseases, 2014-04, Vol.9 (1), p.52-52

2014

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Disease‐specific phenotypes in iPSC‐derived neural stem cells with POLG mutations

EMBO molecular medicine, 2020-10, Vol.12 (10), p.e12146-n/a

2020

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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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GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

PloS one, 2017, Vol.12 (1), p.e0169309-e0169309

2017

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Serial Diffusion Imaging in a Case of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

Stroke (1970), 2009-02, Vol.40 (2), p.e15-e17

2009

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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, Vol.15, p.1355861-1355861

2024

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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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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, Vol.14, p.1220620-1220620

2023

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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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Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy

PloS one, 2016-02, Vol.11 (2), p.e0149055-e0149055

2016

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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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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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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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Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish

Frontiers in molecular neuroscience, 2021-09, Vol.14, p.723912-723912

2021

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Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay

PloS one, 2013-06, Vol.8 (6), p.e66145-e66145

2013

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MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

Orphanet journal of rare diseases, 2013-01, Vol.8 (1), p.1-1, Article 1

2013

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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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Using urine to diagnose large‐scale mtDNA deletions in adult patients

Annals of clinical and translational neurology, 2020-08, Vol.7 (8), p.1318-1326

2020

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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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Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease

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

A multicenter study on Leigh syndrome: disease course and predictors of survival

Disease‐specific phenotypes in iPSC‐derived neural stem cells with POLG mutations

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

GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

Serial Diffusion Imaging in a Case of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

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

Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration

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

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

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

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

Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy

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

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

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

Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish

Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

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

Using urine to diagnose large‐scale mtDNA deletions in adult patients

Mitochondrial disease in adults: recent advances and future promise

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