• 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
  • 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. Journal of Inherited Metabolic Disease. 726-736.
  • 2020. Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus. Journal of Inherited Metabolic Disease. 800-818.
  • 2020. Polymerase gamma-relatert mitokondriesykdom. Tidsskrift for Den norske legeforening. 1-7.
  • 2020. Mental health and health related quality of life in mitochondrial POLG disease. Mitochondrion (Amsterdam. Print). 95-99.
  • 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. Journal of Inherited Metabolic Disease. 1-12.
  • 2020. A method for differentiating human induced pluripotent stem cells toward functional cardiomyocytes in 96‐well microplates. Scientific Reports. 1-14.
  • 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. 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. Journal of Inherited Metabolic Disease. 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 pages.
  • 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 pages.
  • 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.
  • 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 pages.
  • 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. 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.
Academic lecture
  • 2001. SCA 6 - en kasuistikk.
  • 2001. Doparesponsiv dystonia - an important differential diagnosis in children with gait disturbance.
  • 2011. Når det vanligste ikke er forklaringen. Tidsskrift for Den norske legeforening. 75-76.
Reader opinion piece
  • 2018. Felles løft for pasienter med nevromuskulære sykdommer. Tidsskrift for Den norske legeforening. 1408-1409.
  • 2011. A family with atypical CADASIL. Journal of Neurology. 1888-1889.
  • 2008. Palatal tremor and facial dyskinesia in a patient with POLG1 mutation. Movement Disorders. 1624-1626.
  • 2007. Reply to Chinnery. Brain. E70.
  • 2007. MELAS associated with mutations in the POLG1 gene. Neurology.
Short communication
  • 2015. En mann i 50-årene med høyt ferritinnivå og økende kognitiv svikt. Tidsskrift for Den norske legeforening. 1369-1372.
  • 2007. En mann med progredierende spastisk paraparese. Tidsskrift for Den norske legeforening. 3085-3087.
Masters thesis
  • 2018. W748S POLG mutation induced mitochondrial changes in hiPSC-differentiated NSCs.
  • 2012. Mitochondrial function and metabolic stress tolerance in fibroblasts from patients with mutations in POLG.
  • 2005. An analysis of mitochondrial DNA in young patients with stroke.
Popular scientific article
  • 2000. Muskelklinikken i Bergen. Muskelsyk. 13-14.
  • 2000. Muskelklinikken i Bergen. Muskelsyk. 13-14.
Letter to the editor
  • 2018. Future of neurologic examination in clinical practice. JAMA Neurology. 382-382.
  • 2016. Nigrostriatal denervation sine parkinsonism. Brain.
Doctoral dissertation
  • 2018. Modelling mitochondrial disease in cardiomyocytes generated from patient induced stem cells.
Academic chapter/article/Conference paper
  • 2015. Myopathies.
  • 2012. Ataxia in mitochondrial disorders. 14 pages.
  • 2011. Mitochondrial cytopathies. 12 pages.
  • 2007. Muskelsykdommer. 16 pages.
  • 2003. Muskelsykdommer. 16 pages.
  • 2002. Mitochondrial dysfunction and the gastrointestinal system.
  • 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.
  • 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.
  • 2014. Novel MYH7-mutations in Norwegian patients with distal myopathy.
  • 2001. Ponto-cerebellar hypoplasi and anterior horn cell disease in two siblings.
  • 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). Journal of Inherited Metabolic Disease. 153-153.
Academic literature review
  • 2020. Patient-specific neural progenitor cells derived from induced pluripotent stem cells offer a promise of good models for mitochondrial disease. 15-30.
  • 2017. Understanding the epilepsy in POLG related disease. 1-8.
  • 2013. New treatments for mitochondrial disease-no time to drop our standards. 474-481.
  • 2013. EFNS review on the role of muscle biopsy in the investigation of myalgia. 997-1005.
  • 2007. Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. 779-783.
  • 2006. Unusual features in a boy with the rapsyn N88K mutation. 2262-2263.

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