• E-mailLaurence.Bindoff@uib.no
  • Phone+47 55 97 50 96+47 976 63 814
  • Visitor Address
    Department of Neurology
    Haukeland University Hospital
    5021 Bergen
  • Postal Address
    Postboks 7804
    5020 Bergen
Academic article
  • Show author(s) 2021. Stem cell derived astrocytes with POLG mutations and mitochondrial dysfunction including abnormal NAD+ metabolism is toxic for neurons. BioRxiv.
  • Show author(s) 2021. Nicotinamide Riboside and Metformin Ameliorate Mitophagy Defect in Induced Pluripotent Stem Cell-Derived Astrocytes With POLG Mutations. Frontiers in Cell and Developmental Biology.
  • Show author(s) 2021. In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration. Human Genetics. 1-17.
  • Show author(s) 2021. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome Medicine. 19 pages.
  • Show author(s) 2021. 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.
  • Show author(s) 2021. DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion. Nucleic Acids Research (NAR). 5230-5248.
  • Show author(s) 2021. A characteristic occipital epileptiform EEG pattern in ADCK3-related mitochondrial disease. Epileptic disorders. 1-10.
  • Show author(s) 2020. Using urine to diagnose large-scale mtDNA deletions in adult patients. Annals of clinical and translational neurology. 1318-1326.
  • Show author(s) 2020. The impact of gender, puberty, and pregnancy in patients with POLG disease. Annals of clinical and translational neurology. 2019-2025.
  • Show author(s) 2020. Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases. The Journal of Inherited Metabolic Disease (JIMD). 726-736.
  • Show author(s) 2020. Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus. The Journal of Inherited Metabolic Disease (JIMD). 800-818.
  • Show author(s) 2020. Polymerase gamma-relatert mitokondriesykdom. Tidsskrift for Den norske legeforening. 1-7.
  • Show author(s) 2020. N-acetylcysteine amide ameliorates mitochondrial dysfunction and reduces oxidative stress in hiPSC-derived dopaminergic neurons with POLG mutation. Experimental Neurology.
  • Show author(s) 2020. Mental health and health related quality of life in mitochondrial POLG disease. Mitochondrion (Amsterdam. Print). 95-99.
  • Show author(s) 2020. Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9. Annals of clinical and translational neurology. 757-766.
  • Show author(s) 2020. Disease-specific phenotypes in iPSC-derived neural stem cells with POLG mutations. EMBO Molecular Medicine. 1-26.
  • Show author(s) 2020. Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease. The Journal of Inherited Metabolic Disease (JIMD). 1-12.
  • Show author(s) 2020. A method for differentiating human induced pluripotent stem cells toward functional cardiomyocytes in 96‐well microplates. Scientific Reports. 1-14.
  • Show author(s) 2020. A hospital based epidemiological study of genetically determined muscle disease in south western Norway. Neuromuscular Disorders. 181-185.
  • Show author(s) 2019. Mitochondrial complex IV is lost in neurons in the cuprizone mouse model. Mitochondrion (Amsterdam. Print). 58-62.
  • Show author(s) 2019. Mitochondrial DNA depletion in sporadic inclusion body myositis. Neuromuscular Disorders. 242-246.
  • Show author(s) 2019. 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). 1-19.
  • Show author(s) 2019. Fibroblasts rescue oral squamous cancer cell from metformin-induced apoptosis via alleviating metabolic disbalance and inhibiting AMPK pathway. Cell Cycle. 949-962.
  • Show author(s) 2019. Fever-related ataxia: A case report of CAPOS syndrome. Cerebellum & ataxias. 1-5.
  • Show author(s) 2019. Case Report: No effect of electrical transcranial direct current stimulation adjunct treatment for epilepsia partialis continua in POLG disease. Epilepsy and Behavior Case Reports (EBCR).
  • Show author(s) 2018. Phenotype-genotype correlations in leigh syndrome: New insights from a multicentre study of 96 patients. Journal of Medical Genetics. 21-27.
  • Show author(s) 2018. Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications. Epilepsia. 1595-1602.
  • Show author(s) 2018. Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study. Brain Pathology. 1-17.
  • Show author(s) 2018. 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. Cold Spring Harbor Molecular Case Studies.
  • Show author(s) 2018. 3,3'-Diaminobenzidine staining interferes with PCR-based DNA analysis. Scientific Reports. 1-8.
  • Show author(s) 2017. The presence of anaemia negatively influences survival in patients with POLG disease. The Journal of Inherited Metabolic Disease (JIMD). 861-866.
  • Show author(s) 2017. The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. Genetics in Medicine. 1217-1225.
  • Show author(s) 2017. PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. Cerebellum. 272-275.
  • Show author(s) 2017. No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy. Mitochondrion (Amsterdam. Print). 10-15.
  • Show author(s) 2017. Neurofilament light chain predicts disease activity in relapsing-remitting MS. Neurology: Neuroimmunology and neuroinflammation. 1-8.
  • Show author(s) 2017. Multippel sklerose - en mitokondriemediert sykdom? Tidsskrift for Den norske legeforening. 274-287.
  • Show author(s) 2017. GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies. PLOS ONE. 1-10.
  • Show author(s) 2017. Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy. JAMA Neurology. 686-694.
  • Show author(s) 2016. Novel SLC19A3 promoter deletion and allelic silencing in biotin-thiamine-responsive basal ganglia encephalopathy. PLOS ONE.
  • Show author(s) 2016. Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck. Human Molecular Genetics. 1031-1041.
  • Show author(s) 2016. Mitochondrial DNA homeostasis is essential for nigrostriatal integrity. Mitochondrion (Amsterdam. Print). 33-37.
  • Show author(s) 2016. Increased levels of cell-free mitochondrial DNA in the cerebrospinal fluid of patients with multiple sclerosis. Mitochondrion (Amsterdam. Print). 32-35.
  • Show author(s) 2016. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. Journal of Medical Genetics. 127-131.
  • Show author(s) 2016. Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease. Nature Communications. 11 pages.
  • Show author(s) 2016. Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. EMBO Molecular Medicine. 176-190.
  • Show author(s) 2016. ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? European Journal of Neurology. 1188-1194.
  • Show author(s) 2016. A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. Brain. 2154-2163.
  • Show author(s) 2015. High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2). American Journal of Ophthalmology. 973-979.
  • Show author(s) 2015. HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia. Proceedings of the National Academy of Sciences of the United States of America.
  • Show author(s) 2015. Genetic and hypoxic alterations of the microRNA-210-ISCU1/2 axis promote iron-sulfur deficiency and pulmonary hypertension. EMBO Molecular Medicine. 695-713.
  • Show author(s) 2015. Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency. Brain. 2948-2963.
  • Show author(s) 2014. Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions. PLOS ONE.
  • Show author(s) 2014. Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. Journal of Neurology. 358-362.
  • Show author(s) 2014. Molecular pathogenesis of polymerase gamma-related neurodegeneration. Annals of Neurology. 66-81.
  • Show author(s) 2014. Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA. PLoS Genetics.
  • Show author(s) 2014. A multicenter study on Leigh syndrome: Disease course and predictors of survival. Orphanet Journal of Rare Diseases.
  • Show author(s) 2013. Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations. Brain. 2393-2404.
  • Show author(s) 2013. Progressive striatal necrosis associated with anti-NMDA receptor antibodies. BMC Neurology. 4 pages.
  • Show author(s) 2013. Novel SACS mutations identified by whole exome sequencing in a Norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. PLOS ONE. 5 pages.
  • Show author(s) 2013. MT-ND5 mutation causing exercise intolerance displays intercellular heteroplasmy and rapid shifts between generations. Human Mutation. 292-295.
  • Show author(s) 2013. MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet Journal of Rare Diseases. 10 pages.
  • Show author(s) 2013. Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study. Developmental Medicine & Child Neurology. 440-447.
  • Show author(s) 2013. ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common Exon 5 gene mutation. Human Mutation. 1111-1118.
  • Show author(s) 2012. What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? Brain. 3614-3626.
  • Show author(s) 2012. Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population. Mitochondrion (Amsterdam. Print). 640-643.
  • Show author(s) 2012. Mitochondrial diseases and epilepsy. Epilepsia. 92-97.
  • Show author(s) 2012. Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene. Journal of Neurology. 292-296.
  • Show author(s) 2012. Focal myositis - A neurogenic phenomenon? Neuromuscular Disorders. 350-354.
  • Show author(s) 2012. Antisense oligonucleotide corrects splice abnormality in hereditary myopathy with lactic acidosis. Gene. 231-236.
  • Show author(s) 2012. Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects. Brain. 3627-3634.
  • Show author(s) 2011. The male phenotype in osteopathia striata congenita with cranial sclerosis. American Journal of Medical Genetics. Part A. 2397-2408.
  • Show author(s) 2011. Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I. Neuromuscular Disorders. 41-46.
  • Show author(s) 2011. Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. Mitochondrion (Amsterdam. Print). 182-190.
  • Show author(s) 2011. Mitochondrial function and pathology in status epilepticus. Epilepsia. 6-7.
  • Show author(s) 2011. FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. Lancet Neurology. 806-818.
  • Show author(s) 2011. Defining the mitochondrial POLG-related spinocerebellar ataxia and epilepsy in Norway. Advances in Clinical Neurosciences. 20-21.
  • Show author(s) 2011. A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype. Journal of Parkinson's Disease. 119-122.
  • Show author(s) 2011. A new malformation syndrome with congenital arthrogryposis and severe hyperkeratosis. Clinical Dysmorphology. 75-76.
  • Show author(s) 2010. Rhabdomyolysis after group C streptococcal infection. Infectious Disease Reports. 49-50.
  • Show author(s) 2010. OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules. Human Molecular Genetics. 3043-3052.
  • Show author(s) 2010. Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism. American Journal of Human Genetics. 410-417.
  • Show author(s) 2010. Multi-system neurological disease is common in patients with OPA1 mutations. Brain. 771-786.
  • Show author(s) 2010. Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. Brain. 1428-1437.
  • Show author(s) 2010. Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy. Biochimica et Biophysica Acta - Molecular Basis of Disease. 539-544.
  • Show author(s) 2010. A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy. Acta Neurologica Scandinavica. 109-113.
  • Show author(s) 2009. Serial Diffusion Imaging in a Case of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes. Stroke. E15-E17.
  • Show author(s) 2009. Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy. Epilepsy & Behavior. 172-174.
  • Show author(s) 2009. Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations. Acta Neurologica Scandinavica. 38-41.
  • Show author(s) 2009. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nature Genetics. 95-100.
  • Show author(s) 2009. An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population. European Journal of Human Genetics. 967-975.
  • Show author(s) 2009. A novel Refsum-like disorder that maps to chromosome 20. Neurology. 20-27.
  • Show author(s) 2008. POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain. 818-828.
  • Show author(s) 2008. Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations. Diabetes Care. 1738-1740.
  • Show author(s) 2008. Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. Journal of Neurology. 1142-1144.
  • Show author(s) 2008. Correlation between genetic and geographic structure in Europe. Current Biology. 1241-1248.
  • Show author(s) 2008. A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance. Neuromuscular Disorders. 310-314.
  • Show author(s) 2007. Clinical evolution of Kearns-Sayre syndrome with polyendocrinopathy and respiratory failure. Acta Neurologica Scandinavica. 64-67.
  • Show author(s) 2006. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain. 1685-1692.
  • Show author(s) 2006. Severe fascioscapulohumeral muscular dystrophy presenting with Coats' disease and mental retardation. Neuromuscular Disorders. 559-563.
  • Show author(s) 2006. Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNA Leu(UUR))) gene. Nucleic Acids Research (NAR). 6404-6415.
  • Show author(s) 2005. Mitochondrial DNA polymerase W748S mutation: A new common cause of spinocerebellar ataxia with ancient European origin. American Journal of Human Genetics. 430-441.
  • Show author(s) 2005. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology. 1204-1208.
  • Show author(s) 2004. Sporadic mitochondrial myopathy due to a new mutation in the mitochondric tRNASer/UCN) gene. Neuromuscular Disorders. 417-420.
  • Show author(s) 2004. Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNA(Ser(UCN)) gene. Neuromuscular Disorders. 417-420.
  • Show author(s) 2004. Risk of developing a mitochondrial DNA deletion disorder. The Lancet. 592-596.
  • Show author(s) 2004. Muscular diseases in the sun. Tidsskrift for Den norske legeforening. 1754.
  • Show author(s) 2004. A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome. European Journal of Human Genetics. 509-512.
  • Show author(s) 2003. Tthe treatment of mitochondrial disorders. Neuromuscular Disorders. 757-764.
  • Show author(s) 2003. Phenotype modulators in myophosphorylase deficiency. Annals of Neurology. 497-502.
  • Show author(s) 2003. Late onset mitochondrial disorder with electromyographical evidence of myotonia. Muscle &Nerve. 757-759.
  • Show author(s) 2003. Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitrochondria. Human Molecular Genetics. 2341-2348.
  • Show author(s) 2003. Hashimoto's encephalopathy: a treatable cause of mental impairment, stroke and seizures. European Journal of Neurology. 746-747.
  • Show author(s) 2003. Arvelige muskelsykdommer. Tidsskrift for Den norske legeforening. 2588-2592.
  • Show author(s) 2003. Anaesthetic complications associated with myotonia congenita: case study and comparison with other myotonic disorders. Acta Anaesthesiologica Scandinavica. 630-634.
  • Show author(s) 2002. Tyreotoksisk periodisk paralyse - en uvanlig komplikasjon ved hypertyreose. Tidsskrift for Den norske legeforening. 1029-1031.
  • Show author(s) 2002. Thyrotoxicosis and paraparesis in a young woman: case report and review of the literature. Thyroid. 77-80.
  • Show author(s) 2002. Doparesponsiv dystoni - en arvelig dystoni som er lett å behandle. Tidsskrift for Den norske legeforening. 379-381.
  • Show author(s) 2002. Cystic Dilatation of Virchow-Robin Spaces in the Midbrain. European Neurology. 186-188.
  • Show author(s) 2002. A patient that changed my practice. Practical Neurology. 302-303.
  • Show author(s) 2001. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nature Genetics. 350-354.
  • Show author(s) 2001. Acute dystoni ved behandling med metoklopramid (Afipran). Tidsskrift for Den norske legeforening. 2162-2163.
  • Show author(s) 2000. The epidemiology of pathogenic mitochondrial DNA mutations. Annals of Neurology. 188-193.
  • Show author(s) 2000. The epidemiology of pathogenic mitochondrial DNA mutations. Annals of Neurology. 188-193.
  • Show author(s) 2000. Longidudinal analysis of the segregation of mtDNA mutations in heteroplasm individuals. Journal of Neurological Sciences. 1-6.
  • Show author(s) 2000. Longidudinal analysis of the segregation of mtDNA mutations in heteroplasm individuals. Journal of Neurological Sciences. 1-6.
  • Show author(s) 1999. Treatment of mitochondrial disorders: practical and theoretical issues. European journal of paediatric neurology. 201-208.
  • Show author(s) 1999. Non-radom tissue distribution of mutant mtDNA in humans. American Journal of Medical Genetics. 498-501.
  • Show author(s) 1999. Loss of function SURF I mutations in cytochrome c oxidase deficiency. Annals of Neurology. 161-166.
  • Show author(s) 1999. Conversion of a reporter gene for mitochondrial gene expression using iterative mega-prime PCR. Gene. 241-247.
  • Show author(s) 1999. A common disease haploltype segretating in spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin. European Journal of Human Genetics. 841-845.
  • Show author(s) 1998. Facial vasculitic rash associated with intravenous immuglobulin. BMJ. British Medical Journal. 1291-1291.
  • Show author(s) 1998. Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2. Brain. 581-588.
Academic lecture
  • Show author(s) 2001. SCA 6 - en kasuistikk.
  • Show author(s) 2001. Doparesponsiv dystonia - an important differential diagnosis in children with gait disturbance.
  • Show author(s) 2011. Når det vanligste ikke er forklaringen. Tidsskrift for Den norske legeforening. 75-76.
Reader opinion piece
  • Show author(s) 2018. Felles løft for pasienter med nevromuskulære sykdommer. Tidsskrift for Den norske legeforening. 1408-1409.
  • Show author(s) 2011. A family with atypical CADASIL. Journal of Neurology. 1888-1889.
  • Show author(s) 2008. Palatal tremor and facial dyskinesia in a patient with POLG1 mutation. Movement Disorders. 1624-1626.
  • Show author(s) 2007. Reply to Chinnery. Brain. E70.
  • Show author(s) 2007. MELAS associated with mutations in the POLG1 gene. Neurology.
Short communication
  • Show author(s) 2015. En mann i 50-årene med høyt ferritinnivå og økende kognitiv svikt. Tidsskrift for Den norske legeforening. 1369-1372.
  • Show author(s) 2007. En mann med progredierende spastisk paraparese. Tidsskrift for Den norske legeforening. 3085-3087.
Masters thesis
  • Show author(s) 2018. W748S POLG mutation induced mitochondrial changes in hiPSC-differentiated NSCs.
  • Show author(s) 2012. Mitochondrial function and metabolic stress tolerance in fibroblasts from patients with mutations in POLG.
  • Show author(s) 2005. An analysis of mitochondrial DNA in young patients with stroke.
Popular scientific article
  • Show author(s) 2000. Muskelklinikken i Bergen. Muskelsyk. 13-14.
  • Show author(s) 2000. Muskelklinikken i Bergen. Muskelsyk. 13-14.
Letter to the editor
  • Show author(s) 2018. Future of neurologic examination in clinical practice. JAMA Neurology. 382-382.
  • Show author(s) 2016. Nigrostriatal denervation sine parkinsonism. Brain.
Doctoral dissertation
  • Show author(s) 2018. Modelling mitochondrial disease in cardiomyocytes generated from patient induced stem cells.
Academic chapter/article/Conference paper
  • Show author(s) 2015. Myopathies.
  • Show author(s) 2012. Ataxia in mitochondrial disorders. 14 pages.
  • Show author(s) 2011. Mitochondrial cytopathies. 12 pages.
  • Show author(s) 2007. Muskelsykdommer. 16 pages.
  • Show author(s) 2003. Muskelsykdommer. 16 pages.
  • Show author(s) 2002. Mitochondrial dysfunction and the gastrointestinal system.
  • Show author(s) 2013. Mast cell upregulation in inclusion body myositis: a role for neurogenic inflammation? Neuropathology and Applied Neurobiology. 26-26.
  • Show author(s) 2012. Polymerase gamma (POLG) associated encephalopathy is characterised by neuronal mtDNA depletion and respiratory complex-I deficiency. European Journal of Neurology. 63-63.
  • Show author(s) 2012. Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) caused by a novel mutation in DARS2. European Journal of Neurology. 728-728.
  • Show author(s) 2010. What modifies the clinical presentation of the common homozygous p.A467T POLG mutation? Neuromuscular Disorders. S26-S26.
  • Show author(s) 2010. Localized cerebral energy failure in mitochondrial polymerase gamma-associated encephalopathy. European Journal of Neurology. 71-71.
  • Show author(s) 2010. Genetic characterisation of PHARC - a novel syndrome resembling Refsum's disease. Neuromuscular Disorders. 680-680.
  • Show author(s) 2010. Antisense oligonucleotide correction of splice error in cultured ISCU myopathy muscle cells. Neuromuscular Disorders. 676-676.
  • Show author(s) 2009. Neuropsychological performance of patients with polg1 mutation and epilepsy: evidence of more pronounced right than left hemisphere dysfunction? Epilepsia. 119-119.
  • Show author(s) 2009. MRI and neuropathology findings in three patients with the syndrome of mitochondrial spinocerebellar ataxia and epilepsy (MSCAE). Neuropathology and Applied Neurobiology. 20-20.
  • Show author(s) 2007. Hereditary spastic paraplegia caused by the novel mutation 1047INSC in the SPG7 gene. European Journal of Neurology. 240-240.
  • Show author(s) 2007. Cerebral imaging in mitochondrial spinocerebellar ataxia caused by POLG mutations shows diagnostic specificity and provides insight into disease evolution. European Journal of Neurology. 14-15.
  • Show author(s) 2006. The clinical spectrum of disease in 26 patients with G1399A or G2243C mutations in the gene encoding the catalytic subunit of mitochondrial DNA-polymerase gamma. European Journal of Neurology. 40-40.
  • Show author(s) 2006. The clinical semiology of epilepsy in patients with mitochondriopathy due to polymerasegamma-(POLG) mutations. Epilepsia. 248-248.
  • Show author(s) 2006. Molecular background of mitochondrial recessive ataxia syndrome, MIRAS. The FASEB Journal. A920-A920.
  • Show author(s) 2006. Late-onset mitochondrial encephalomyopathy with stroke-like episodes and novel mitochondrial DNA mutation. European Journal of Neurology. 40-40.
  • Show author(s) 2004. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Biochimica et Biophysica Acta - Bioenergetics. 29-29.
  • Show author(s) 2014. Novel MYH7-mutations in Norwegian patients with distal myopathy.
  • Show author(s) 2001. Ponto-cerebellar hypoplasi and anterior horn cell disease in two siblings.
  • Show author(s) 2018. Correction to: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations (Genetics in Medicine, (2017), 19, 11, (1217-1225), 10.1038/gim.2017.35). Genetics in Medicine. 1-1.
  • Show author(s) 2017. Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease (Journal of Inherited Metabolic Disease, (2017), 40, 6, (861-866), 10.1007/s10545-017-0084-9). The Journal of Inherited Metabolic Disease (JIMD). 153-153.
Academic literature review
  • Show author(s) 2020. Patient-specific neural progenitor cells derived from induced pluripotent stem cells offer a promise of good models for mitochondrial disease. Cell and Tissue Research. 15-30.
  • Show author(s) 2017. Understanding the epilepsy in POLG related disease. International Journal of Molecular Sciences. 1-8.
  • Show author(s) 2013. New treatments for mitochondrial disease-no time to drop our standards. Nature Reviews Neurology. 474-481.
  • Show author(s) 2013. EFNS review on the role of muscle biopsy in the investigation of myalgia. European Journal of Neurology. 997-1005.
  • Show author(s) 2007. Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. European Journal of Human Genetics. 779-783.
  • Show author(s) 2006. Unusual features in a boy with the rapsyn N88K mutation. Neurology. 2262-2263.

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