Hjem
  • E-postLaurence.Bindoff@uib.no
  • Telefon+47 55 97 50 96+47 976 63 814
  • Besøksadresse
    Avdeling for nevrologi
    Haukeland universitetssykehus
    5021 Bergen
  • Postadresse
    Postboks 7804
    5020 Bergen
Vitenskapelig artikkel
  • Vis forfatter(e) (2021). Stem cell derived astrocytes with POLG mutations and mitochondrial dysfunction including abnormal NAD+ metabolism is toxic for neurons. BioRxiv.
  • Vis forfatter(e) (2021). Nicotinamide riboside and metformin ameliorate mitophagy defect in induced pluripotent stem cell-derived astrocytes with POLG mutations. Frontiers in Cell and Developmental Biology. 1-20.
  • Vis forfatter(e) (2021). N-acetylcysteine amide ameliorates mitochondrial dysfunction and reduces oxidative stress in hiPSC-derived dopaminergic neurons with POLG mutation. Experimental Neurology.
  • Vis forfatter(e) (2021). In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration. Human Genetics. 1593-1609.
  • Vis forfatter(e) (2021). Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome Medicine. 1-19.
  • Vis forfatter(e) (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.
  • Vis forfatter(e) (2021). Distinct Mitochondrial Remodeling During Mesoderm Differentiation in a Human-Based Stem Cell Model. Frontiers in Cell and Developmental Biology. 1-12.
  • Vis forfatter(e) (2021). DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion. Nucleic Acids Research (NAR). 5230-5248.
  • Vis forfatter(e) (2021). Chip protein U-box domain truncation affects Purkinje neuron morphology and leads to behavioral changes in zebrafish. Frontiers in Molecular Neuroscience. 1-19.
  • Vis forfatter(e) (2021). A characteristic occipital epileptiform EEG pattern in ADCK3-related mitochondrial disease. Epileptic disorders. 1-10.
  • Vis forfatter(e) (2020). Using urine to diagnose large-scale mtDNA deletions in adult patients. Annals of clinical and translational neurology. 1318-1326.
  • Vis forfatter(e) (2020). The impact of gender, puberty, and pregnancy in patients with POLG disease. Annals of clinical and translational neurology. 2019-2025.
  • Vis forfatter(e) (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.
  • Vis forfatter(e) (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.
  • Vis forfatter(e) (2020). Polymerase gamma-relatert mitokondriesykdom. Tidsskrift for Den norske legeforening. 1-7.
  • Vis forfatter(e) (2020). N-acetylcysteine amide ameliorates mitochondrial dysfunction and reduces oxidative stress in hiPSC-derived dopaminergic neurons with POLG mutation. Experimental Neurology.
  • Vis forfatter(e) (2020). Mental health and health related quality of life in mitochondrial POLG disease. Mitochondrion (Amsterdam. Print). 95-99.
  • Vis forfatter(e) (2020). Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9. Annals of clinical and translational neurology. 757-766.
  • Vis forfatter(e) (2020). Disease-specific phenotypes in iPSC-derived neural stem cells with POLG mutations. EMBO Molecular Medicine. 1-26.
  • Vis forfatter(e) (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.
  • Vis forfatter(e) (2020). A method for differentiating human induced pluripotent stem cells toward functional cardiomyocytes in 96‐well microplates. Scientific Reports. 1-14.
  • Vis forfatter(e) (2020). A hospital based epidemiological study of genetically determined muscle disease in south western Norway. Neuromuscular Disorders. 181-185.
  • Vis forfatter(e) (2019). Mitochondrial complex IV is lost in neurons in the cuprizone mouse model. Mitochondrion (Amsterdam. Print). 58-62.
  • Vis forfatter(e) (2019). Mitochondrial DNA depletion in sporadic inclusion body myositis. Neuromuscular Disorders. 242-246.
  • Vis forfatter(e) (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.
  • Vis forfatter(e) (2019). Fibroblasts rescue oral squamous cancer cell from metformin-induced apoptosis via alleviating metabolic disbalance and inhibiting AMPK pathway. Cell Cycle. 949-962.
  • Vis forfatter(e) (2019). Fever-related ataxia: A case report of CAPOS syndrome. Cerebellum & ataxias. 1-5.
  • Vis forfatter(e) (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).
  • Vis forfatter(e) (2018). Phenotype-genotype correlations in leigh syndrome: New insights from a multicentre study of 96 patients. Journal of Medical Genetics. 21-27.
  • Vis forfatter(e) (2018). Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications. Epilepsia. 1595-1602.
  • Vis forfatter(e) (2018). Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study. Brain Pathology. 1-17.
  • Vis forfatter(e) (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.
  • Vis forfatter(e) (2018). 3,3'-Diaminobenzidine staining interferes with PCR-based DNA analysis. Scientific Reports. 1-8.
  • Vis forfatter(e) (2017). The presence of anaemia negatively influences survival in patients with POLG disease. The Journal of Inherited Metabolic Disease (JIMD). 861-866.
  • Vis forfatter(e) (2017). The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. Genetics in Medicine. 1217-1225.
  • Vis forfatter(e) (2017). PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. Cerebellum. 272-275.
  • Vis forfatter(e) (2017). No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy. Mitochondrion (Amsterdam. Print). 10-15.
  • Vis forfatter(e) (2017). Neurofilament light chain predicts disease activity in relapsing-remitting MS. Neurology: Neuroimmunology and neuroinflammation. 1-8.
  • Vis forfatter(e) (2017). Multippel sklerose - en mitokondriemediert sykdom? Tidsskrift for Den norske legeforening. 274-287.
  • Vis forfatter(e) (2017). GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies. PLOS ONE. 1-10.
  • Vis forfatter(e) (2017). Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy. JAMA Neurology. 686-694.
  • Vis forfatter(e) (2016). Novel SLC19A3 promoter deletion and allelic silencing in biotin-thiamine-responsive basal ganglia encephalopathy. PLOS ONE.
  • Vis forfatter(e) (2016). Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck. Human Molecular Genetics. 1031-1041.
  • Vis forfatter(e) (2016). Mitochondrial DNA homeostasis is essential for nigrostriatal integrity. Mitochondrion (Amsterdam. Print). 33-37.
  • Vis forfatter(e) (2016). Increased levels of cell-free mitochondrial DNA in the cerebrospinal fluid of patients with multiple sclerosis. Mitochondrion (Amsterdam. Print). 32-35.
  • Vis forfatter(e) (2016). Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. Journal of Medical Genetics. 127-131.
  • Vis forfatter(e) (2016). Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease. Nature Communications. 11 sider.
  • Vis forfatter(e) (2016). Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. EMBO Molecular Medicine. 176-190.
  • Vis forfatter(e) (2016). ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? European Journal of Neurology. 1188-1194.
  • Vis forfatter(e) (2016). A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. Brain. 2154-2163.
  • Vis forfatter(e) (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.
  • Vis forfatter(e) (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.
  • Vis forfatter(e) (2015). Genetic and hypoxic alterations of the microRNA-210-ISCU1/2 axis promote iron-sulfur deficiency and pulmonary hypertension. EMBO Molecular Medicine. 695-713.
  • Vis forfatter(e) (2015). Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency. Brain. 2948-2963.
  • Vis forfatter(e) (2014). Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions. PLOS ONE.
  • Vis forfatter(e) (2014). Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. Journal of Neurology. 358-362.
  • Vis forfatter(e) (2014). Molecular pathogenesis of polymerase gamma-related neurodegeneration. Annals of Neurology. 66-81.
  • Vis forfatter(e) (2014). Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA. PLoS Genetics.
  • Vis forfatter(e) (2014). A multicenter study on Leigh syndrome: Disease course and predictors of survival. Orphanet Journal of Rare Diseases.
  • Vis forfatter(e) (2013). Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations. Brain. 2393-2404.
  • Vis forfatter(e) (2013). Progressive striatal necrosis associated with anti-NMDA receptor antibodies. BMC Neurology. 4 sider.
  • Vis forfatter(e) (2013). Novel SACS mutations identified by whole exome sequencing in a Norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. PLOS ONE. 5 sider.
  • Vis forfatter(e) (2013). MT-ND5 mutation causing exercise intolerance displays intercellular heteroplasmy and rapid shifts between generations. Human Mutation. 292-295.
  • Vis forfatter(e) (2013). MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet Journal of Rare Diseases. 10 sider.
  • Vis forfatter(e) (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.
  • Vis forfatter(e) (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.
  • Vis forfatter(e) (2012). What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? Brain. 3614-3626.
  • Vis forfatter(e) (2012). Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population. Mitochondrion (Amsterdam. Print). 640-643.
  • Vis forfatter(e) (2012). Mitochondrial diseases and epilepsy. Epilepsia. 92-97.
  • Vis forfatter(e) (2012). Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene. Journal of Neurology. 292-296.
  • Vis forfatter(e) (2012). Focal myositis - A neurogenic phenomenon? Neuromuscular Disorders. 350-354.
  • Vis forfatter(e) (2012). Antisense oligonucleotide corrects splice abnormality in hereditary myopathy with lactic acidosis. Gene. 231-236.
  • Vis forfatter(e) (2012). Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects. Brain. 3627-3634.
  • Vis forfatter(e) (2011). The male phenotype in osteopathia striata congenita with cranial sclerosis. American Journal of Medical Genetics. Part A. 2397-2408.
  • Vis forfatter(e) (2011). Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I. Neuromuscular Disorders. 41-46.
  • Vis forfatter(e) (2011). Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. Mitochondrion (Amsterdam. Print). 182-190.
  • Vis forfatter(e) (2011). Mitochondrial function and pathology in status epilepticus. Epilepsia. 6-7.
  • Vis forfatter(e) (2011). FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. Lancet Neurology. 806-818.
  • Vis forfatter(e) (2011). Defining the mitochondrial POLG-related spinocerebellar ataxia and epilepsy in Norway. Advances in Clinical Neurosciences. 20-21.
  • Vis forfatter(e) (2011). A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype. Journal of Parkinson's Disease. 119-122.
  • Vis forfatter(e) (2011). A new malformation syndrome with congenital arthrogryposis and severe hyperkeratosis. Clinical Dysmorphology. 75-76.
  • Vis forfatter(e) (2010). Rhabdomyolysis after group C streptococcal infection. Infectious Disease Reports. 49-50.
  • Vis forfatter(e) (2010). OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules. Human Molecular Genetics. 3043-3052.
  • Vis forfatter(e) (2010). Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism. American Journal of Human Genetics. 410-417.
  • Vis forfatter(e) (2010). Multi-system neurological disease is common in patients with OPA1 mutations. Brain. 771-786.
  • Vis forfatter(e) (2010). Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. Brain. 1428-1437.
  • Vis forfatter(e) (2010). Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy. Biochimica et Biophysica Acta - Molecular Basis of Disease. 539-544.
  • Vis forfatter(e) (2010). A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy. Acta Neurologica Scandinavica. 109-113.
  • Vis forfatter(e) (2009). Serial Diffusion Imaging in a Case of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes. Stroke. E15-E17.
  • Vis forfatter(e) (2009). Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy. Epilepsy & Behavior. 172-174.
  • Vis forfatter(e) (2009). Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations. Acta Neurologica Scandinavica. 38-41.
  • Vis forfatter(e) (2009). Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nature Genetics. 95-100.
  • Vis forfatter(e) (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.
  • Vis forfatter(e) (2009). A novel Refsum-like disorder that maps to chromosome 20. Neurology. 20-27.
  • Vis forfatter(e) (2008). POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain. 818-828.
  • Vis forfatter(e) (2008). Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations. Diabetes Care. 1738-1740.
  • Vis forfatter(e) (2008). Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. Journal of Neurology. 1142-1144.
  • Vis forfatter(e) (2008). Correlation between genetic and geographic structure in Europe. Current Biology. 1241-1248.
  • Vis forfatter(e) (2008). A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance. Neuromuscular Disorders. 310-314.
  • Vis forfatter(e) (2007). Clinical evolution of Kearns-Sayre syndrome with polyendocrinopathy and respiratory failure. Acta Neurologica Scandinavica. 64-67.
  • Vis forfatter(e) (2006). The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain. 1685-1692.
  • Vis forfatter(e) (2006). Severe fascioscapulohumeral muscular dystrophy presenting with Coats' disease and mental retardation. Neuromuscular Disorders. 559-563.
  • Vis forfatter(e) (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.
  • Vis forfatter(e) (2005). Mitochondrial DNA polymerase W748S mutation: A new common cause of spinocerebellar ataxia with ancient European origin. American Journal of Human Genetics. 430-441.
  • Vis forfatter(e) (2005). Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology. 1204-1208.
  • Vis forfatter(e) (2004). Sporadic mitochondrial myopathy due to a new mutation in the mitochondric tRNASer/UCN) gene. Neuromuscular Disorders. 417-420.
  • Vis forfatter(e) (2004). Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNA(Ser(UCN)) gene. Neuromuscular Disorders. 417-420.
  • Vis forfatter(e) (2004). Risk of developing a mitochondrial DNA deletion disorder. The Lancet. 592-596.
  • Vis forfatter(e) (2004). Muscular diseases in the sun. Tidsskrift for Den norske legeforening. 1754.
  • Vis forfatter(e) (2004). A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome. European Journal of Human Genetics. 509-512.
  • Vis forfatter(e) (2003). Tthe treatment of mitochondrial disorders. Neuromuscular Disorders. 757-764.
  • Vis forfatter(e) (2003). Phenotype modulators in myophosphorylase deficiency. Annals of Neurology. 497-502.
  • Vis forfatter(e) (2003). Late onset mitochondrial disorder with electromyographical evidence of myotonia. Muscle &Nerve. 757-759.
  • Vis forfatter(e) (2003). Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitrochondria. Human Molecular Genetics. 2341-2348.
  • Vis forfatter(e) (2003). Hashimoto's encephalopathy: a treatable cause of mental impairment, stroke and seizures. European Journal of Neurology. 746-747.
  • Vis forfatter(e) (2003). Arvelige muskelsykdommer. Tidsskrift for Den norske legeforening. 2588-2592.
  • Vis forfatter(e) (2003). Anaesthetic complications associated with myotonia congenita: case study and comparison with other myotonic disorders. Acta Anaesthesiologica Scandinavica. 630-634.
  • Vis forfatter(e) (2002). Tyreotoksisk periodisk paralyse - en uvanlig komplikasjon ved hypertyreose. Tidsskrift for Den norske legeforening. 1029-1031.
  • Vis forfatter(e) (2002). Thyrotoxicosis and paraparesis in a young woman: case report and review of the literature. Thyroid. 77-80.
  • Vis forfatter(e) (2002). Doparesponsiv dystoni - en arvelig dystoni som er lett å behandle. Tidsskrift for Den norske legeforening. 379-381.
  • Vis forfatter(e) (2002). Cystic Dilatation of Virchow-Robin Spaces in the Midbrain. European Neurology. 186-188.
  • Vis forfatter(e) (2002). A patient that changed my practice. Practical Neurology. 302-303.
  • Vis forfatter(e) (2001). Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nature Genetics. 350-354.
  • Vis forfatter(e) (2001). Acute dystoni ved behandling med metoklopramid (Afipran). Tidsskrift for Den norske legeforening. 2162-2163.
  • Vis forfatter(e) (2000). The epidemiology of pathogenic mitochondrial DNA mutations. Annals of Neurology. 188-193.
  • Vis forfatter(e) (2000). The epidemiology of pathogenic mitochondrial DNA mutations. Annals of Neurology. 188-193.
  • Vis forfatter(e) (2000). Longidudinal analysis of the segregation of mtDNA mutations in heteroplasm individuals. Journal of Neurological Sciences. 1-6.
  • Vis forfatter(e) (2000). Longidudinal analysis of the segregation of mtDNA mutations in heteroplasm individuals. Journal of Neurological Sciences. 1-6.
  • Vis forfatter(e) (1999). Treatment of mitochondrial disorders: practical and theoretical issues. European journal of paediatric neurology. 201-208.
  • Vis forfatter(e) (1999). Non-radom tissue distribution of mutant mtDNA in humans. American Journal of Medical Genetics. 498-501.
  • Vis forfatter(e) (1999). Loss of function SURF I mutations in cytochrome c oxidase deficiency. Annals of Neurology. 161-166.
  • Vis forfatter(e) (1999). Conversion of a reporter gene for mitochondrial gene expression using iterative mega-prime PCR. Gene. 241-247.
  • Vis forfatter(e) (1999). A common disease haploltype segretating in spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin. European Journal of Human Genetics. 841-845.
  • Vis forfatter(e) (1998). Facial vasculitic rash associated with intravenous immuglobulin. BMJ. British Medical Journal. 1291-1291.
  • Vis forfatter(e) (1998). Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2. Brain. 581-588.
Vitenskapelig foredrag
  • Vis forfatter(e) (2001). SCA 6 - en kasuistikk.
  • Vis forfatter(e) (2001). Doparesponsiv dystonia - an important differential diagnosis in children with gait disturbance.
Leder
  • Vis forfatter(e) (2011). Når det vanligste ikke er forklaringen. Tidsskrift for Den norske legeforening. 75-76.
Leserinnlegg
  • Vis forfatter(e) (2018). Felles løft for pasienter med nevromuskulære sykdommer. Tidsskrift for Den norske legeforening. 1408-1409.
  • Vis forfatter(e) (2011). A family with atypical CADASIL. Journal of Neurology. 1888-1889.
  • Vis forfatter(e) (2008). Palatal tremor and facial dyskinesia in a patient with POLG1 mutation. Movement Disorders. 1624-1626.
  • Vis forfatter(e) (2007). Reply to Chinnery. Brain. E70.
  • Vis forfatter(e) (2007). MELAS associated with mutations in the POLG1 gene. Neurology.
Short communication
  • Vis forfatter(e) (2015). En mann i 50-årene med høyt ferritinnivå og økende kognitiv svikt. Tidsskrift for Den norske legeforening. 1369-1372.
  • Vis forfatter(e) (2007). En mann med progredierende spastisk paraparese. Tidsskrift for Den norske legeforening. 3085-3087.
Mastergradsoppgave
  • Vis forfatter(e) (2018). W748S POLG mutation induced mitochondrial changes in hiPSC-differentiated NSCs.
  • Vis forfatter(e) (2012). Mitochondrial function and metabolic stress tolerance in fibroblasts from patients with mutations in POLG.
  • Vis forfatter(e) (2005). An analysis of mitochondrial DNA in young patients with stroke.
Populærvitenskapelig artikkel
  • Vis forfatter(e) (2000). Muskelklinikken i Bergen. Muskelsyk. 13-14.
  • Vis forfatter(e) (2000). Muskelklinikken i Bergen. Muskelsyk. 13-14.
Brev til redaktøren
  • Vis forfatter(e) (2018). Future of neurologic examination in clinical practice. JAMA Neurology. 382-382.
  • Vis forfatter(e) (2016). Nigrostriatal denervation sine parkinsonism. Brain.
Doktorgradsavhandling
  • Vis forfatter(e) (2018). Modelling mitochondrial disease in cardiomyocytes generated from patient induced stem cells.
Vitenskapelig Kapittel/Artikkel/Konferanseartikkel
  • Vis forfatter(e) (2015). Myopathies.
  • Vis forfatter(e) (2012). Ataxia in mitochondrial disorders. 14 sider.
  • Vis forfatter(e) (2011). Mitochondrial cytopathies. 12 sider.
  • Vis forfatter(e) (2007). Muskelsykdommer. 16 sider.
  • Vis forfatter(e) (2003). Muskelsykdommer. 16 sider.
  • Vis forfatter(e) (2002). Mitochondrial dysfunction and the gastrointestinal system.
Sammendrag/abstract
  • Vis forfatter(e) (2013). Mast cell upregulation in inclusion body myositis: a role for neurogenic inflammation? Neuropathology and Applied Neurobiology. 26-26.
  • Vis forfatter(e) (2012). Polymerase gamma (POLG) associated encephalopathy is characterised by neuronal mtDNA depletion and respiratory complex-I deficiency. European Journal of Neurology. 63-63.
  • Vis forfatter(e) (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.
  • Vis forfatter(e) (2011). MODELS OF MITOCHONDRIAL DISEASE AND HOW THESE ARE BEING USED TO IDENTIFY NOVEL TREATMENTS. European Journal of Neurology. 624-624.
  • Vis forfatter(e) (2010). What modifies the clinical presentation of the common homozygous p.A467T POLG mutation? Neuromuscular Disorders. S26-S26.
  • Vis forfatter(e) (2010). Localized cerebral energy failure in mitochondrial polymerase gamma-associated encephalopathy. European Journal of Neurology. 71-71.
  • Vis forfatter(e) (2010). Genetic characterisation of PHARC - a novel syndrome resembling Refsum's disease. Neuromuscular Disorders. 680-680.
  • Vis forfatter(e) (2010). Antisense oligonucleotide correction of splice error in cultured ISCU myopathy muscle cells. Neuromuscular Disorders. 676-676.
  • Vis forfatter(e) (2009). Neuropsychological performance of patients with polg1 mutation and epilepsy: evidence of more pronounced right than left hemisphere dysfunction? Epilepsia. 119-119.
  • Vis forfatter(e) (2009). MRI and neuropathology findings in three patients with the syndrome of mitochondrial spinocerebellar ataxia and epilepsy (MSCAE). Neuropathology and Applied Neurobiology. 20-20.
  • Vis forfatter(e) (2007). Hereditary spastic paraplegia caused by the novel mutation 1047INSC in the SPG7 gene. European Journal of Neurology. 240-240.
  • Vis forfatter(e) (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.
  • Vis forfatter(e) (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.
  • Vis forfatter(e) (2006). The clinical semiology of epilepsy in patients with mitochondriopathy due to polymerasegamma-(POLG) mutations. Epilepsia. 248-248.
  • Vis forfatter(e) (2006). Molecular background of mitochondrial recessive ataxia syndrome, MIRAS. The FASEB Journal. A920-A920.
  • Vis forfatter(e) (2006). Late-onset mitochondrial encephalomyopathy with stroke-like episodes and novel mitochondrial DNA mutation. European Journal of Neurology. 40-40.
  • Vis forfatter(e) (2004). Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Biochimica et Biophysica Acta - Bioenergetics. 29-29.
Poster
  • Vis forfatter(e) (2014). Novel MYH7-mutations in Norwegian patients with distal myopathy.
  • Vis forfatter(e) (2001). Ponto-cerebellar hypoplasi and anterior horn cell disease in two siblings.
Errata
  • Vis forfatter(e) (2021). Erratum: Correction to 'DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion' (Nucleic acids research (2021) 49 9 (5230-5248)). Nucleic Acids Research (NAR). 10803.
  • Vis forfatter(e) (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.
  • Vis forfatter(e) (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.
Vitenskapelig oversiktsartikkel/review
  • Vis forfatter(e) (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.
  • Vis forfatter(e) (2017). Understanding the epilepsy in POLG related disease. International Journal of Molecular Sciences. 1-8.
  • Vis forfatter(e) (2013). New treatments for mitochondrial disease-no time to drop our standards. Nature Reviews Neurology. 474-481.
  • Vis forfatter(e) (2013). EFNS review on the role of muscle biopsy in the investigation of myalgia. European Journal of Neurology. 997-1005.
  • Vis forfatter(e) (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.
  • Vis forfatter(e) (2006). Unusual features in a boy with the rapsyn N88K mutation. Neurology. 2262-2263.

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