Laurence A. Bindoff

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.

A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance.

Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy.

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

Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.

Mitochondrial function and pathology in status epilepticus.

Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population.

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

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

Progressive striatal necrosis associated with anti-NMDA receptor antibodies.

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

Rhabdomyolysis after group C streptococcal infection.

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

Molecular pathogenesis of polymerase γ-related neurodegeneration.

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA.

High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2).

Genetic and hypoxic alterations of the microRNA-210-ISCU1/2 axis promote iron-sulfur deficiency and pulmonary hypertension.

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

Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency.

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration.

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.

Nigrostriatal denervation sine parkinsonism.

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

Mitochondrial DNA homeostasis is essential for nigrostriatal integrity.

A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.

No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy.

Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease.

Increased levels of cell-free mitochondrial DNA in the cerebrospinal fluid of patients with multiple sclerosis.

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

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

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.

Understanding the Epilepsy in POLG Related Disease.

The presence of anaemia negatively influences survival in patients with POLG disease.

Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease.

Neurofilament light chain predicts disease activity in relapsing-remitting MS.

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

A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance.

Mitochondrial ataxias.

Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications.

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

Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.

Mitochondrial DNA depletion in sporadic inclusion body myositis.

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

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

Fever-related ataxia: a case report of CAPOS syndrome.

Mitochondrial complex IV is lost in neurons in the cuprizone mouse model.

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

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

A hospital based epidemiological study of genetically determined muscle disease in south western Norway.

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

Using urine to diagnose large-scale mtDNA deletions in adult patients.

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

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

Mental health and health related quality of life in mitochondrial POLG disease.

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

Comment on "A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome".

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

Serum biomarkers in primary mitochondrial disorders.

In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration.

A characteristic occipital epileptiform EEG pattern in ADCK3-related mitochondrial disease.

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.

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

Mitochondrial disease in adults: recent advances and future promise.

Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration.

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

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

Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.

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

New treatments for mitochondrial disease-no time to drop our standards.

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.

Patient-specific neural progenitor cells derived from induced pluripotent stem cells offer a promise of good models for mitochondrial disease.

Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.

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

Renal Phenotype in Mitochondrial Diseases: A Multicenter Study.

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

Musculoskeletal Chronic Graft versus Host Disease-A Rare Complication to Allogeneic Hematopoietic Stem Cell Transplant: A Case-Based Report and Review of the Literature.

Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020).

The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study.

Corrigendum to "The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study" [Epilepsy Res. 190 (2023) 107099].

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