Laurence Albert Bindoff
Emeritus
- E-postlaurence.bindoff@uib.no
- BesøksadresseAvdeling for nevrologiHaukeland universitetssykehus5021 Bergen
- PostadressePostboks 78045020 Bergen
Vitenskapelig artikkel
- (2024). Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study. Frontiers in Neurology.
- (2024). The NAD<sup>+</sup> Precursor Nicotinamide Riboside Rescues Mitochondrial Defects and Neuronal Loss in iPSC derived Cortical Organoid of Alpers' Disease. International Journal of Biological Sciences. 1194-1217.
- (2024). Hallmark Molecular and Pathological Features of POLG Disease are Recapitulated in Cerebral Organoids. Advanced Science.
- (2023). The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study. Epilepsy Research.
- (2023). Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study. Journal of Medical Genetics. 65-73.
- (2023). PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients. Frontiers in Pharmacology.
- (2023). POLG genotype influences degree of mitochondrial dysfunction in iPSC derived neural progenitors, but not the parent iPSC or derived glia. Experimental Neurology. 16 sider.
- (2023). Deoxyribonucleoside treatment rescues EtBr-induced mtDNA depletion in iPSC-derived neural stem cells with POLG mutations. The FASEB Journal. 15 sider.
- (2023). Application of Flow Cytometric Analysis for Measuring Multiple Mitochondrial Parameters in 3D Brain Organoids. Journal of Visualized Experiments. 1-18.
- (2022). Renal Phenotype in Mitochondrial Diseases: A Multicenter Study. Kidney Diseases. 103-114.
- (2022). POLG mutations lead to abnormal mitochondrial remodeling during neural differentiation of human pluripotent stem cells via SIRT3/AMPK pathway inhibition. Cell Cycle. 1178-1193.
- (2022). Musculoskeletal Chronic Graft versus Host Disease-A Rare Complication to Allogeneic Hematopoietic Stem Cell Transplant: A Case-Based Report and Review of the Literature. Current Oncology. 8415-8430.
- (2022). Mitokondriesykdom forårsaket av m.3243A>G-mutasjonen. Tidsskrift for Den norske legeforening. 6 sider.
- (2022). Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020). Neuromuscular Disorders. 119-132.
- (2022). Comparing the mitochondrial signatures in ESCs and iPSCs and their neural derivations. Cell Cycle. 2206-2221.
- (2021). Stem cell derived astrocytes with POLG mutations and mitochondrial dysfunction including abnormal NAD+ metabolism is toxic for neurons. bioRxiv.
- (2021). Serum biomarkers in primary mitochondrial disorders. Brain Communications.
- (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.
- (2021). In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration. Human Genetics. 1593-1609.
- (2021). Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome Medicine. 1-19.
- (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.
- (2021). Flow cytometric analysis of multiple mitochondrial parameters in human induced pluripotent stem cells and their neural and glial derivatives. Journal of Visualized Experiments.
- (2021). Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease. Annals of clinical and translational neurology. 2155-2165.
- (2021). Distinct Mitochondrial Remodeling During Mesoderm Differentiation in a Human-Based Stem Cell Model. Frontiers in Cell and Developmental Biology. 1-12.
- (2021). DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion. Nucleic Acids Research (NAR). 5230-5248.
- (2021). Chip protein U-box domain truncation affects Purkinje neuron morphology and leads to behavioral changes in zebrafish. Frontiers in Molecular Neuroscience. 1-19.
- (2021). A characteristic occipital epileptiform EEG pattern in ADCK3-related mitochondrial disease. Epileptic disorders. 1-10.
- (2020). Using urine to diagnose large-scale mtDNA deletions in adult patients. Annals of clinical and translational neurology. 1318-1326.
- (2020). The impact of gender, puberty, and pregnancy in patients with POLG disease. Annals of clinical and translational neurology. 2019-2025.
- (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.
- (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.
- (2020). Polymerase gamma-relatert mitokondriesykdom. Tidsskrift for Den norske legeforening. 1-7.
- (2020). N-acetylcysteine amide ameliorates mitochondrial dysfunction and reduces oxidative stress in hiPSC-derived dopaminergic neurons with POLG mutation. Experimental Neurology.
- (2020). Mental health and health related quality of life in mitochondrial POLG disease. Mitochondrion (Amsterdam. Print). 95-99.
- (2020). Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9. Annals of clinical and translational neurology. 757-766.
- (2020). Disease-specific phenotypes in iPSC-derived neural stem cells with POLG mutations. EMBO Molecular Medicine. 1-26.
- (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.
- (2020). A method for differentiating human induced pluripotent stem cells toward functional cardiomyocytes in 96‐well microplates. Scientific Reports. 1-14.
- (2020). A hospital based epidemiological study of genetically determined muscle disease in south western Norway. Neuromuscular Disorders. 181-185.
- (2019). Mitochondrial complex IV is lost in neurons in the cuprizone mouse model. Mitochondrion (Amsterdam. Print). 58-62.
- (2019). Mitochondrial DNA depletion in sporadic inclusion body myositis. Neuromuscular Disorders. 242-246.
- (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.
- (2019). Fibroblasts rescue oral squamous cancer cell from metformin-induced apoptosis via alleviating metabolic disbalance and inhibiting AMPK pathway. Cell Cycle. 949-962.
- (2019). Fever-related ataxia: A case report of CAPOS syndrome. Cerebellum & ataxias. 1-5.
- (2019). Consensus-based statements for the management of mitochondrial stroke-like episodes. Wellcome Open Research.
- (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).
- (2018). Phenotype-genotype correlations in leigh syndrome: New insights from a multicentre study of 96 patients. Journal of Medical Genetics. 21-27.
- (2018). Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications. Epilepsia. 1595-1602.
- (2018). Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study. Brain Pathology. 1-17.
- (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.
- (2018). 3,3'-Diaminobenzidine staining interferes with PCR-based DNA analysis. Scientific Reports. 1-8.
- (2017). The presence of anaemia negatively influences survival in patients with POLG disease. The Journal of Inherited Metabolic Disease (JIMD). 861-866.
- (2017). The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. Genetics in Medicine. 1217-1225.
- (2017). PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. Cerebellum. 272-275.
- (2017). No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy. Mitochondrion (Amsterdam. Print). 10-15.
- (2017). Neurofilament light chain predicts disease activity in relapsing-remitting MS. Neurology: Neuroimmunology and neuroinflammation. 1-8.
- (2017). Multippel sklerose - en mitokondriemediert sykdom? Tidsskrift for Den norske legeforening. 274-287.
- (2017). GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies. PLOS ONE. 1-10.
- (2017). Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy. JAMA Neurology. 686-694.
- (2016). Novel SLC19A3 promoter deletion and allelic silencing in biotin-thiamine-responsive basal ganglia encephalopathy. PLOS ONE.
- (2016). Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck. Human Molecular Genetics. 1031-1041.
- (2016). Mitochondrial DNA homeostasis is essential for nigrostriatal integrity. Mitochondrion (Amsterdam. Print). 33-37.
- (2016). Increased levels of cell-free mitochondrial DNA in the cerebrospinal fluid of patients with multiple sclerosis. Mitochondrion (Amsterdam. Print). 32-35.
- (2016). Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. Journal of Medical Genetics. 127-131.
- (2016). Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease. Nature Communications. 11 sider.
- (2016). Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. EMBO Molecular Medicine. 176-190.
- (2016). ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? European Journal of Neurology. 1188-1194.
- (2016). A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. Brain. 2154-2163.
- (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.
- (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.
- (2015). Genetic and hypoxic alterations of the microRNA-210-ISCU1/2 axis promote iron-sulfur deficiency and pulmonary hypertension. EMBO Molecular Medicine. 695-713.
- (2015). Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency. Brain. 2948-2963.
- (2014). Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions. PLOS ONE.
- (2014). Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. Journal of Neurology. 358-362.
- (2014). Molecular pathogenesis of polymerase gamma-related neurodegeneration. Annals of Neurology. 66-81.
- (2014). Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA. PLoS Genetics.
- (2014). A multicenter study on Leigh syndrome: Disease course and predictors of survival. Orphanet Journal of Rare Diseases.
- (2013). Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations. Brain. 2393-2404.
- (2013). Progressive striatal necrosis associated with anti-NMDA receptor antibodies. BMC Neurology. 4 sider.
- (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.
- (2013). MT-ND5 mutation causing exercise intolerance displays intercellular heteroplasmy and rapid shifts between generations. Human Mutation. 292-295.
- (2013). MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet Journal of Rare Diseases. 10 sider.
- (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.
- (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.
- (2012). What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? Brain. 3614-3626.
- (2012). Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population. Mitochondrion (Amsterdam. Print). 640-643.
- (2012). Mitochondrial diseases and epilepsy. Epilepsia. 92-97.
- (2012). Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene. Journal of Neurology. 292-296.
- (2012). Focal myositis - A neurogenic phenomenon? Neuromuscular Disorders. 350-354.
- (2012). Antisense oligonucleotide corrects splice abnormality in hereditary myopathy with lactic acidosis. Gene. 231-236.
- (2012). Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects. Brain. 3627-3634.
- (2011). The male phenotype in osteopathia striata congenita with cranial sclerosis. American Journal of Medical Genetics. Part A. 2397-2408.
- (2011). Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I. Neuromuscular Disorders. 41-46.
- (2011). Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. Mitochondrion (Amsterdam. Print). 182-190.
- (2011). Mitochondrial function and pathology in status epilepticus. Epilepsia. 6-7.
- (2011). FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. Lancet Neurology. 806-818.
- (2011). Defining the mitochondrial POLG-related spinocerebellar ataxia and epilepsy in Norway. Advances in Clinical Neurosciences. 20-21.
- (2011). A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype. Journal of Parkinson's Disease. 119-122.
- (2011). A new malformation syndrome with congenital arthrogryposis and severe hyperkeratosis. Clinical Dysmorphology. 75-76.
- (2010). Rhabdomyolysis after group C streptococcal infection. Infectious Disease Reports. 49-50.
- (2010). OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules. Human Molecular Genetics. 3043-3052.
- (2010). Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism. American Journal of Human Genetics. 410-417.
- (2010). Multi-system neurological disease is common in patients with OPA1 mutations. Brain. 771-786.
- (2010). Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. Brain. 1428-1437.
- (2010). Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy. Biochimica et Biophysica Acta - Molecular Basis of Disease. 539-544.
- (2010). A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy. Acta Neurologica Scandinavica. 109-113.
- (2009). Serial Diffusion Imaging in a Case of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes. Stroke. E15-E17.
- (2009). Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy. Epilepsy & Behavior. 172-174.
- (2009). Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations. Acta Neurologica Scandinavica. 38-41.
- (2009). Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nature Genetics. 95-100.
- (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.
- (2009). A novel Refsum-like disorder that maps to chromosome 20. Neurology. 20-27.
- (2008). POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain. 818-828.
- (2008). Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations. Diabetes Care. 1738-1740.
- (2008). Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. Journal of Neurology. 1142-1144.
- (2008). Correlation between genetic and geographic structure in Europe. Current Biology. 1241-1248.
- (2008). A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance. Neuromuscular Disorders. 310-314.
- (2007). Clinical evolution of Kearns-Sayre syndrome with polyendocrinopathy and respiratory failure. Acta Neurologica Scandinavica. 64-67.
- (2006). The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain. 1685-1692.
- (2006). Severe fascioscapulohumeral muscular dystrophy presenting with Coats' disease and mental retardation. Neuromuscular Disorders. 559-563.
- (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.
- (2005). Mitochondrial DNA polymerase W748S mutation: A new common cause of spinocerebellar ataxia with ancient European origin. American Journal of Human Genetics. 430-441.
- (2005). Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology. 1204-1208.
- (2004). Sporadic mitochondrial myopathy due to a new mutation in the mitochondric tRNASer/UCN) gene. Neuromuscular Disorders. 417-420.
- (2004). Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNA(Ser(UCN)) gene. Neuromuscular Disorders. 417-420.
- (2004). Risk of developing a mitochondrial DNA deletion disorder. The Lancet. 592-596.
- (2004). Muscular diseases in the sun. Tidsskrift for Den norske legeforening. 1754.
- (2004). A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome. European Journal of Human Genetics. 509-512.
- (2003). Tthe treatment of mitochondrial disorders. Neuromuscular Disorders. 757-764.
- (2003). Phenotype modulators in myophosphorylase deficiency. Annals of Neurology. 497-502.
- (2003). Late onset mitochondrial disorder with electromyographical evidence of myotonia. Muscle &Nerve. 757-759.
- (2003). Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitrochondria. Human Molecular Genetics. 2341-2348.
- (2003). Hashimoto's encephalopathy: a treatable cause of mental impairment, stroke and seizures. European Journal of Neurology. 746-747.
- (2003). Arvelige muskelsykdommer. Tidsskrift for Den norske legeforening. 2588-2592.
- (2003). Anaesthetic complications associated with myotonia congenita: case study and comparison with other myotonic disorders. Acta Anaesthesiologica Scandinavica. 630-634.
- (2002). Tyreotoksisk periodisk paralyse - en uvanlig komplikasjon ved hypertyreose. Tidsskrift for Den norske legeforening. 1029-1031.
- (2002). Thyrotoxicosis and paraparesis in a young woman: case report and review of the literature. Thyroid. 77-80.
- (2002). Doparesponsiv dystoni - en arvelig dystoni som er lett å behandle. Tidsskrift for Den norske legeforening. 379-381.
- (2002). Cystic Dilatation of Virchow-Robin Spaces in the Midbrain. European Neurology. 186-188.
- (2002). A patient that changed my practice. Practical Neurology. 302-303.
- (2001). Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nature Genetics. 350-354.
- (2001). Acute dystoni ved behandling med metoklopramid (Afipran). Tidsskrift for Den norske legeforening. 2162-2163.
- (2000). The epidemiology of pathogenic mitochondrial DNA mutations. Annals of Neurology. 188-193.
- (2000). The epidemiology of pathogenic mitochondrial DNA mutations. Annals of Neurology. 188-193.
- (2000). Longidudinal analysis of the segregation of mtDNA mutations in heteroplasm individuals. Journal of Neurological Sciences. 1-6.
- (2000). Longidudinal analysis of the segregation of mtDNA mutations in heteroplasm individuals. Journal of Neurological Sciences. 1-6.
- (1999). Treatment of mitochondrial disorders: practical and theoretical issues. European journal of paediatric neurology. 201-208.
- (1999). Non-radom tissue distribution of mutant mtDNA in humans. American Journal of Medical Genetics. 498-501.
- (1999). Loss of function SURF I mutations in cytochrome c oxidase deficiency. Annals of Neurology. 161-166.
- (1999). Conversion of a reporter gene for mitochondrial gene expression using iterative mega-prime PCR. Gene. 241-247.
- (1999). A common disease haploltype segretating in spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin. European Journal of Human Genetics. 841-845.
- (1998). Facial vasculitic rash associated with intravenous immuglobulin. BMJ. British Medical Journal. 1291-1291.
- (1998). Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2. Brain. 581-588.
Vitenskapelig foredrag
- (2001). SCA 6 - en kasuistikk.
- (2001). Doparesponsiv dystonia - an important differential diagnosis in children with gait disturbance.
Leder
- (2011). Når det vanligste ikke er forklaringen. Tidsskrift for Den norske legeforening. 75-76.
Leserinnlegg
- (2007). Reply to Chinnery. Brain. E70.
Populærvitenskapelig artikkel
- (2000). Muskelklinikken i Bergen. Muskelsyk. 13-14.
- (2000). Muskelklinikken i Bergen. Muskelsyk. 13-14.
Brev til redaktøren
- (2021). Comment on “A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome”. The Journal of Inherited Metabolic Disease (JIMD). 6-7.
- (2018). Future of neurologic examination in clinical practice. JAMA Neurology. 382-382.
- (2016). Nigrostriatal denervation sine parkinsonism. Brain.
Doktorgradsavhandling
- (2018). Modelling mitochondrial disease in cardiomyocytes generated from patient induced stem cells.
Vitenskapelig Kapittel/Artikkel/Konferanseartikkel
- (2015). Myopathies.
- (2012). Ataxia in mitochondrial disorders. 14 sider.
- (2011). Mitochondrial cytopathies. 12 sider.
- (2007). Muskelsykdommer. 16 sider.
- (2003). Muskelsykdommer. 16 sider.
- (2002). Mitochondrial dysfunction and the gastrointestinal system.
Sammendrag/abstract
- (2013). Mast cell upregulation in inclusion body myositis: a role for neurogenic inflammation? Neuropathology and Applied Neurobiology. 26-26.
- (2012). Polymerase gamma (POLG) associated encephalopathy is characterised by neuronal mtDNA depletion and respiratory complex-I deficiency. European Journal of Neurology. 63-63.
- (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.
- (2011). MODELS OF MITOCHONDRIAL DISEASE AND HOW THESE ARE BEING USED TO IDENTIFY NOVEL TREATMENTS. European Journal of Neurology. 624-624.
- (2010). What modifies the clinical presentation of the common homozygous p.A467T POLG mutation? Neuromuscular Disorders. S26-S26.
- (2010). Localized cerebral energy failure in mitochondrial polymerase gamma-associated encephalopathy. European Journal of Neurology. 71-71.
- (2010). Genetic characterisation of PHARC - a novel syndrome resembling Refsum's disease. Neuromuscular Disorders. 680-680.
- (2010). Antisense oligonucleotide correction of splice error in cultured ISCU myopathy muscle cells. Neuromuscular Disorders. 676-676.
- (2009). Neuropsychological performance of patients with polg1 mutation and epilepsy: evidence of more pronounced right than left hemisphere dysfunction? Epilepsia. 119-119.
- (2009). MRI and neuropathology findings in three patients with the syndrome of mitochondrial spinocerebellar ataxia and epilepsy (MSCAE). Neuropathology and Applied Neurobiology. 20-20.
- (2007). Hereditary spastic paraplegia caused by the novel mutation 1047INSC in the SPG7 gene. European Journal of Neurology. 240-240.
- (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.
- (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.
- (2006). The clinical semiology of epilepsy in patients with mitochondriopathy due to polymerasegamma-(POLG) mutations. Epilepsia. 248-248.
- (2006). Molecular background of mitochondrial recessive ataxia syndrome, MIRAS. The FASEB Journal. A920-A920.
- (2006). Late-onset mitochondrial encephalomyopathy with stroke-like episodes and novel mitochondrial DNA mutation. European Journal of Neurology. 40-40.
- (2004). Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Biochimica et Biophysica Acta - Bioenergetics. 29-29.
Poster
- (2014). Novel MYH7-mutations in Norwegian patients with distal myopathy.
- (2001). Ponto-cerebellar hypoplasi and anterior horn cell disease in two siblings.
Errata
- (2023). Corrigendum to “The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study” [Epilepsy Res. 190 (2023) 107099] (Epilepsy Research (2023) 190, (S0920121123000244), (10.1016/j.eplepsyres.2023.107099)). Epilepsy Research.
- (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.
- (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.
- (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
- (2021). Role of pitrm1 in mitochondrial dysfunction and neurodegeneration. Biomedicines. 1-17.
- (2021). Mitochondrial disease in adults: recent advances and future promise. Lancet Neurology. 573-584.
- (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.
- (2017). Understanding the epilepsy in POLG related disease. International Journal of Molecular Sciences. 1-8.
- (2013). New treatments for mitochondrial disease-no time to drop our standards. Nature Reviews Neurology. 474-481.
- (2013). EFNS review on the role of muscle biopsy in the investigation of myalgia. European Journal of Neurology. 997-1005.
- (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.
- (2006). Unusual features in a boy with the rapsyn N88K mutation. Neurology. 2262-2263.