Academic book chapter

• Nils Erik Gilhus; M Rasmussen; Laurence Albert Bindoff (2003). Muskelsykdommer. (external link)
• Nils Erik Gilhus; M. Rasmussen; Laurence Bindoff (2007). Muskelsykdommer. (external link)
• Laurence Bindoff (2015). Myopathies. (external link)
• Massimo Zeviani; Alessandro Simonati; Laurence Bindoff (2012). Ataxia in mitochondrial disorders. (external link)
• Laurence Bindoff; Bernt Engelsen (2011). Mitochondrial cytopathies. (external link)
• Laurence Albert Bindoff (2002). Mitochondrial dysfunction and the gastrointestinal system. (external link)

Academic article

• Charalampos Tzoulis; Gia Tuong Thi Tran; Ivar Otto Gjerde et al. (2012). Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene. (external link)
• Vibeke Arntsen; Ahmed Jamali; ALMA SIKIRIC et al. (2024). Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study. (external link)
• Zhang Zhuoyuan; Zhenjie Gao; Saroj Rajthala et al. (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. (external link)
• PF Chinnery; MA Johnson; TM Wardell et al. (2000). The epidemiology of pathogenic mitochondrial DNA mutations. (external link)
• Charalampos Tzoulis; Christian A. Vedeler; Mette Haugen et al. (2013). Progressive striatal necrosis associated with anti-NMDA receptor antibodies. (external link)
• Xiao Liang; Atefeh Kianian; Anbin Chen et al. (2021). Stem cell derived astrocytes with POLG mutations and mitochondrial dysfunction including abnormal NAD+ metabolism is toxic for neurons. (external link)
• Irene Hana Flønes; Pawel Szymon Sztromwasser; Kristoffer Haugarvoll et al. (2016). Novel SLC19A3 promoter deletion and allelic silencing in biotin-thiamine-responsive basal ganglia encephalopathy. (external link)
• Charalampos Tzoulis; Pawel Szymon Sztromwasser; Stefan Johansson et al. (2017). PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. (external link)
• N Howell; SS Ghosh; E Fahy et al. (2000). Longidudinal analysis of the segregation of mtDNA mutations in heteroplasm individuals. (external link)
• Katharina Maniura-Weber; Mark Helm; Katrin Engemann et al. (2006). Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNA Leu(UUR))) gene. (external link)
• Kristoffer Haugarvoll; Laurence Bindoff (2011). A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype. (external link)
• Laurence Bindoff; Charalampos Tzoulis (2011). Defining the mitochondrial POLG-related spinocerebellar ataxia and epilepsy in Norway. (external link)
• Christian Dölle; Irene Hana Flønes; Gonzalo Sanchez Nido et al. (2016). Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease. (external link)
• Pedro Silva-Pinheiro; Carlos Pardo-Hernández; Aurelio Reyes et al. (2021). DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion. (external link)
• Kristoffer Haugarvoll; Charalampos Tzoulis; Gia Tuong Thi Tran et al. (2014). Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. (external link)
• Cecilie Katrin Kristiansen; Jessica Furriol; Anbin Chen et al. (2023). Deoxyribonucleoside treatment rescues EtBr-induced mtDNA depletion in iPSC-derived neural stem cells with POLG mutations. (external link)
• Ellen M Hagen; Elisabeth Farbu; Laurence Albert Bindoff (2001). Acute dystoni ved behandling med metoklopramid (Afipran). (external link)
• Charalampos Tzoulis; Thomas Schwarzlmüller; Martin Biermann et al. (2016). Mitochondrial DNA homeostasis is essential for nigrostriatal integrity. (external link)
• Lindsay B. Murphy; Olivia Schreiber-Katz; Karen Rafferty et al. (2020). Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9. (external link)
• Alessia Di Donfrancesco; Christian Berlingieri; Marta Giacomello et al. (2023). PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients. (external link)
• Zandra A. Jenkins; Margriet van Kogelenberg; Tim Morgan et al. (2009). Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. (external link)
• Hanne Marie Bøe Lunde; Geir Olve Skeie; Anne Kjørsvik et al. (2012). Focal myositis - A neurogenic phenomenon?. (external link)
• A.R Curtis; C Fey; CM Morris et al. (2001). Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. (external link)
• Yu Hong; Zhuoyuan Zhang; Tsering Yangzom et al. (2024). The NAD+ Precursor Nicotinamide Riboside Rescues Mitochondrial Defects and Neuronal Loss in iPSC derived Cortical Organoid of Alpers' Disease. (external link)
• Alexander Dåtland Kvinge; Tobias Kvammen; Hrvoje Miletic et al. (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. (external link)
• K Bushby; LV Anderson; C Pollitt et al. (1998). Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2. (external link)
• Kristin Nielsen Varhaug; Christian Barro; Kjetil Lauvland Bjørnevik et al. (2017). Neurofilament light chain predicts disease activity in relapsing-remitting MS. (external link)
• Novin Balafkan; Sepideh Mostafavi; Manja Schubert et al. (2020). A method for differentiating human induced pluripotent stem cells toward functional cardiomyocytes in 96‐well microplates. (external link)
• Charalampos Tzoulis; Gia Tuong Thi Tran; Jonathan Coxhead et al. (2014). Molecular pathogenesis of polymerase gamma-related neurodegeneration. (external link)
• Ahmed Jamali; Erle Kristensen; Trine Tangeraas et al. (2023). The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study. (external link)
• Xiao Liang; Cecilie Katrin Kristiansen; Sepideh Mostafavi et al. (2020). Disease-specific phenotypes in iPSC-derived neural stem cells with POLG mutations. (external link)
• Laurence Bindoff (1999). Treatment of mitochondrial disorders: practical and theoretical issues. (external link)
• PF Chinnery; MA Johnson; TM Wardell et al. (2000). The epidemiology of pathogenic mitochondrial DNA mutations. (external link)
• N Howell; SS Ghosh; E Fahy et al. (2000). Longidudinal analysis of the segregation of mtDNA mutations in heteroplasm individuals. (external link)
• Yi Shiau Ng; Laurence Albert Bindoff; Gráinne S. Gorman et al. (2019). Consensus-based statements for the management of mitochondrial stroke-like episodes. (external link)
• Anna Sarkozy; Debbie Hicks; Judith Hudson et al. (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. (external link)
• Charalampos Tzoulis; Gia Tuong Thi Tran; Thomas Schwarzlmüller et al. (2013). Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations. (external link)
• Anna H Hakonen; Silja Heiskanen; Vesa Juvonen et al. (2005). Mitochondrial DNA polymerase W748S mutation: A new common cause of spinocerebellar ataxia with ancient European origin. (external link)
• Synnøve Jensen; Kai Ivar Müller; Svein Ivar Mellgren et al. (2022). Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020). (external link)
• Christian Dölle; Laurence Bindoff; Charalampos Tzoulis (2018). 3,3'-Diaminobenzidine staining interferes with PCR-based DNA analysis. (external link)
• Patrick Yu-Wai-Man; Philip G. Griffiths; Grainne S. Gorman et al. (2010). Multi-system neurological disease is common in patients with OPA1 mutations. (external link)
• Novin Balafkan; Charalampos Tzoulis; Bernd Muller et al. (2012). Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population. (external link)
• Laurence Bindoff; N Mjellem; K Sommerfelt et al. (2006). Severe fascioscapulohumeral muscular dystrophy presenting with Coats' disease and mental retardation. (external link)
• Cecilie Bredrup; Stefan Johansson; Laurence Bindoff et al. (2015). High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2). (external link)
• Maaike C. De Vries; David A. Brown; Mitchell E. Allen et al. (2020). Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus. (external link)
• Ronen Spiegel; Ann Saada; Padraig J. Flannery et al. (2016). Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. (external link)
• Kristin Varhaug; Christian A. Vedeler; Kjell-Morten Myhr et al. (2016). Increased levels of cell-free mitochondrial DNA in the cerebrospinal fluid of patients with multiple sclerosis. (external link)
• Charalampos Tzoulis; Laurence Bindoff (2009). Serial Diffusion Imaging in a Case of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes. (external link)
• Xiao Liang; Guro Helén Vatne; Cecilie Katrin Kristiansen et al. (2020). N-acetylcysteine amide ameliorates mitochondrial dysfunction and reduces oxidative stress in hiPSC-derived dopaminergic neurons with POLG mutation. (external link)
• Laurence Bindoff (2004). Sporadic mitochondrial myopathy due to a new mutation in the mitochondric tRNASer/UCN) gene. (external link)
• Omar Hikmat; Charalampos Tzoulis; Per Knappskog et al. (2016). ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?. (external link)
• Laurence Bindoff (2004). Muscular diseases in the sun. (external link)
• Omar Hikmat; Karin Naess; Martin Engvall et al. (2018). Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications. (external link)
• Anbin Chen; Tsering Yangzom; Yu Hong et al. (2024). Hallmark Molecular and Pathological Features of POLG Disease are Recapitulated in Cerebral Organoids. (external link)
• Gunnar Mellgren; Inger Hjørdis Bleskestad; Sylvi J Aanderud et al. (2002). Thyrotoxicosis and paraparesis in a young woman: case report and review of the literature. (external link)
• Anu Suomalainen; Jenni M. Elo; Kirsti H. Pietilainen et al. (2011). FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. (external link)
• Kalliopi Sofou; Irenaeus F.M. De Coo; Elsebet Østergaard et al. (2018). Phenotype-genotype correlations in leigh syndrome: New insights from a multicentre study of 96 patients. (external link)
• Laurence Bindoff (2004). Risk of developing a mitochondrial DNA deletion disorder. (external link)
• Hilde Haugedal Nordal; Bård Reiakvam Kittang; Laurence Bindoff (2010). Rhabdomyolysis after group C streptococcal infection. (external link)
• Bernt Engelsen; Charalampos Tzoulis; Bjørn Karlsen et al. (2008). POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. (external link)
• Sarah K. Holman; Phil Daniel; Zandra A. Jenkins et al. (2011). The male phenotype in osteopathia striata congenita with cranial sclerosis. (external link)
• Patrick Yu-Wai-Man; Kamil S Sitarz; David C Samuels et al. (2010). OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules. (external link)
• John Vissing; Rita Barresi; Nanna Witting et al. (2016). A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. (external link)
• Iselin Marie Wedding; Jeanette Koht; Gia Tuong Thi Tran et al. (2014). Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions. (external link)
• Synnøve Winterthun; Gianfrancesco Ferrari; Langping He et al. (2005). Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. (external link)
• Cecilie Katrin Kristiansen; Anbin Chen; Lena Elise Høyland et al. (2022). Comparing the mitochondrial signatures in ESCs and iPSCs and their neural derivations. (external link)
• Sylvia Adele Husebye; Camilla Bratt Rebne; Ann-Elin Meling Stokland et al. (2020). A hospital based epidemiological study of genetically determined muscle disease in south western Norway. (external link)
• Torunn Fiskerstrand; Per Knappskog; Jacek Majewski et al. (2009). A novel Refsum-like disorder that maps to chromosome 20. (external link)
• Yasaman Pakdaman; Siren Berland; Helene J. Bustad et al. (2021). Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16. (external link)
• Charalampos Tzoulis; Migena Papingji; Torunn Fiskestrand et al. (2009). Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations. (external link)
• Kristin Nielsen Varhaug; Gonzalo Sanchez Nido; Irenaeus de Coo et al. (2020). Using urine to diagnose large-scale mtDNA deletions in adult patients. (external link)
• Charalampos Tzoulis; Paola S. Denora; Filippo M Santorelli et al. (2008). Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. (external link)
• Omar Hikmat; Karin Naess; Martin Engvall et al. (2020). Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases. (external link)
• Xiao Liang; Anbin Chen; Atefeh Kianian et al. (2024). Activation of Neurotoxic Astrocytes Due to Mitochondrial Dysfunction Triggered by POLG Mutation. (external link)
• Siren Berland; Trine Toft-Bertelsen; Ingvild Aukrust et al. (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. (external link)
• Petter Schandl Sanaker; Marina Toompuu; Graham McClorey et al. (2012). Antisense oligonucleotide corrects splice abnormality in hereditary myopathy with lactic acidosis. (external link)
• Laurence Bindoff (2011). Mitochondrial function and pathology in status epilepticus. (external link)
• Kristoffer Haugarvoll; Stefan Johansson; Carlos E. Rodriguez et al. (2017). GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies. (external link)
• Zhuoyuan Zhang; Xiao Liang; Yaping Fan et al. (2019). Fibroblasts rescue oral squamous cancer cell from metformin-induced apoptosis via alleviating metabolic disbalance and inhibiting AMPK pathway. (external link)
• Kevin White; Yu Lu; Sofia Annis et al. (2015). Genetic and hypoxic alterations of the microRNA-210-ISCU1/2 axis promote iron-sulfur deficiency and pulmonary hypertension. (external link)
• Omar Hikmat; Bente Johanne Vederhus; Merete Røineland Benestad et al. (2020). Mental health and health related quality of life in mitochondrial POLG disease. (external link)
• Charalampos Tzoulis; Laurence Bindoff (2012). Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects. (external link)
• Yu Hong; Cecilie Katrin Kristiansen; Anbin Chen et al. (2023). POLG genotype influences degree of mitochondrial dysfunction in iPSC derived neural progenitors, but not the parent iPSC or derived glia. (external link)
• Fredrik Romi; Ole-Bjørn Tysnes; Jostein Kråkenes et al. (2002). Cystic Dilatation of Virchow-Robin Spaces in the Midbrain. (external link)
• Ian J. Wilson; Phillipa J. Carling; Charlotte L. Alston et al. (2016). Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck. (external link)
• Jaran Apold; Laurence Bindoff (2011). A new malformation syndrome with congenital arthrogryposis and severe hyperkeratosis. (external link)
• PADMANABH SHRIKANT BHATT; Charalampos Tzoulis; Novin Balafkan et al. (2019). Mitochondrial DNA depletion in sporadic inclusion body myositis. (external link)
• Timothy T. Lu; Oscar Lao; Michael Nothnagel et al. (2009). An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population. (external link)
• S Bidooki; MJ Jackson; MA Johnson et al. (2004). Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNA(Ser(UCN)) gene. (external link)
• Kristin Nielsen Varhaug; Omar Hikmat; Hanne Linda Nakkestad et al. (2021). Serum biomarkers in primary mitochondrial disorders. (external link)
• Mathew LP Howse; Theresa M Wardell; Christopher J Fisher et al. (2003). Late onset mitochondrial disorder with electromyographical evidence of myotonia. (external link)
• Kalliopi Sofou; Irenaeus F.M. De Coo; Pirjo Isohanni et al. (2014). A multicenter study on Leigh syndrome: Disease course and predictors of survival. (external link)
• Petter Schandl Sanaker; Stian Lindland; Frode Rekeland et al. (2007). En mann med progredierende spastisk paraparese. (external link)
• Patrick F Chinnery; Laurence Albert Bindoff (2003). Tthe treatment of mitochondrial disorders. (external link)
• Elisabeth Farbu; Eirik Softeland; Laurence Albert Bindoff (2003). Anaesthetic complications associated with myotonia congenita: case study and comparison with other myotonic disorders. (external link)
• Richard J. Temperley; Sara H Seneca; Katarzyna Tonska et al. (2003). Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitrochondria. (external link)
• J Pang; R Allotey; N Wadia et al. (1999). A common disease haploltype segretating in spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin. (external link)
• S Hofman; V Tiranti; G-P Comi et al. (1999). Loss of function SURF I mutations in cytochrome c oxidase deficiency. (external link)
• Ida Stenshorne; Magnhild Rasmussen; Panagiotis Salvanos et al. (2019). Fever-related ataxia: A case report of CAPOS syndrome. (external link)
• Petter Schandl Sanaker; Marina Toompuu; Vanessa E. Hogan et al. (2010). Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy. (external link)
• Torunn Fiskerstrand; Dorra H'mida-Ben Brahim; Stefan Johansson et al. (2010). Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism. (external link)
• PF Chinnery; PJG Zwijnenburg; M Walker et al. (1999). Non-radom tissue distribution of mutant mtDNA in humans. (external link)
• Z Chrzanowska-Lightowlers; RJ Temperley; A McGregor et al. (1999). Conversion of a reporter gene for mitochondrial gene expression using iterative mega-prime PCR. (external link)
• Gunnar Mellgren; Pål Ivar Holm; Ernst Asbjørn Lien et al. (2002). Tyreotoksisk periodisk paralyse - en uvanlig komplikasjon ved hypertyreose. (external link)
• Lynn Anne Marquardt; Tom Eichele; Laurence Bindoff et al. (2019). Case Report: No effect of electrical transcranial direct current stimulation adjunct treatment for epilepsia partialis continua in POLG disease. (external link)
• Sharika Marjan; Tsering Yangzom; Cecilie Katrin Kristiansen et al. (2023). Application of Flow Cytometric Analysis for Measuring Multiple Mitochondrial Parameters in 3D Brain Organoids. (external link)
• VCM Neeve; David C Samuels; Laurence Bindoff et al. (2012). What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?. (external link)
• Anbin Chen; Cecilie Katrin Kristiansen; Yu Hong et al. (2021). Nicotinamide riboside and metformin ameliorate mitophagy defect in induced pluripotent stem cell-derived astrocytes with POLG mutations. (external link)
• Enrico Baruffini; Rita Horvath; Cristina Dallabona et al. (2011). Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. (external link)
• Marjo K. Hytönen; Riika Sarviaho; Christopher Jackson et al. (2021). In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration. (external link)
• Tiina Rekand; C. Vedeler; Arne Gramstad et al. (2003). Hashimoto's encephalopathy: a treatable cause of mental impairment, stroke and seizures. (external link)
• Kristin Varhaug; Christian A. Vedeler; Charalampos Tzoulis et al. (2017). Multippel sklerose - en mitokondriemediert sykdom?. (external link)
• Omar Hikmat; Charalampos Tzoulis; Wui K. Chong et al. (2017). The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. (external link)
• Charalampos Tzoulis; Gesche F Neckelmann; Sverre Mørk et al. (2010). Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. (external link)
• Xiao Liang; Anbin Chen; Cecilie Katrin Kristiansen et al. (2021). Flow cytometric analysis of multiple mitochondrial parameters in human induced pluripotent stem cells and their neural and glial derivatives. (external link)
• K Maniura-Weber; RW Taylor; MA Johnson et al. (2004). A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome. (external link)
• Anbin Chen; Cecilie Katrin Kristiansen; Lena Elise Høyland et al. (2022). POLG mutations lead to abnormal mitochondrial remodeling during neural differentiation of human pluripotent stem cells via SIRT3/AMPK pathway inhibition. (external link)
• Maria Parasyri; Per Brandström; Johanna Uusimaa et al. (2022). Renal Phenotype in Mitochondrial Diseases: A Multicenter Study. (external link)
• M Howse; Laurence Bindoff; A Carmichael (1998). Facial vasculitic rash associated with intravenous immuglobulin. (external link)
• Arne Gramstad; Laurence Bindoff; Atle Lillebø et al. (2009). Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy. (external link)
• Omar Hikmat; Charalampos Tzoulis; Claus Klingenberg et al. (2017). The presence of anaemia negatively influences survival in patients with POLG disease. (external link)
• Ilaria Mannucci; Nghi D. P. Dang; Hannes Huber et al. (2021). Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. (external link)
• Laurence Albert Bindoff; Nils Erik Gilhus (2003). Arvelige muskelsykdommer. (external link)
• Kristoffer Haugarvoll; Stefan Johansson; Charalampos Tzoulis et al. (2013). MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. (external link)
• Yasaman Pakdaman; Elsa Denker; Eirik Austad et al. (2021). Chip protein U-box domain truncation affects Purkinje neuron morphology and leads to behavioral changes in zebrafish. (external link)
• Marte Helene Bjørk; Ivar Otto Gjerde; Charalampos Tzoulis et al. (2015). En mann i 50-årene med høyt ferritinnivå og økende kognitiv svikt. (external link)
• Petter Schandl Sanaker; Laurence Bindoff (2013). MT-ND5 mutation causing exercise intolerance displays intercellular heteroplasmy and rapid shifts between generations. (external link)
• Vibeke Arntsen; Trond Sand; Omar Hikmat et al. (2021). A characteristic occipital epileptiform EEG pattern in ADCK3-related mitochondrial disease. (external link)
• Petter Schandl Sanaker; Hanne Linda Nakkestad; Esther Downham et al. (2010). A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy. (external link)
• Eva Stensland; Sigurd Lindal; Christoffer Jonsrud et al. (2011). Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I. (external link)
• Hannah Hayhurst; Maria-Eleni Anagnostou; Helen J. Bogle et al. (2018). Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study. (external link)
• Germaine Korner; Daniela Noain; Ming Ying et al. (2015). Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency. (external link)
• Laurence Bindoff; Bernt Engelsen (2012). Mitochondrial diseases and epilepsy. (external link)
• Kristoffer Björkman; John Vissing; Elsebet Østergaard et al. (2023). Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study. (external link)
• Sepideh Mostafavi; Novin Balafkan; Ina Katrine Nitschke Pettersen et al. (2021). Distinct Mitochondrial Remodeling During Mesoderm Differentiation in a Human-Based Stem Cell Model. (external link)
• Mikel Muñoz-Oreja; Abigail Sandoval; Ove Bruland et al. (2024). Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation. (external link)
• Elisabeth Farbu; Laurence Albert Bindoff (2002). Doparesponsiv dystoni - en arvelig dystoni som er lett å behandle. (external link)
• Oscar Lao; Timothy T. Lu; Michael Nothnagel et al. (2008). Correlation between genetic and geographic structure in Europe. (external link)
• John W. Yarham; Tek N. Lamichhane; Angela Pyle et al. (2014). Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA. (external link)
• Kristin Nielsen Varhaug; Torbjørn Kråkenes; Maria Nordheim Alme et al. (2019). Mitochondrial complex IV is lost in neurons in the cuprizone mouse model. (external link)
• Andrea Martinuzzi; Elena Sartori; Marina Fanin et al. (2003). Phenotype modulators in myophosphorylase deficiency. (external link)
• Charalampos Tzoulis; Bernt Engelsen; Wenche Telstad et al. (2006). The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. (external link)
• Laurence Albert Bindoff (2002). A patient that changed my practice. (external link)
• Mette Vesterhus; Helge Ræder; Harald Aurlien et al. (2008). Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations. (external link)
• Petter Schandl Sanaker; Eystein S.Junior Husebye; Ove Fondenes et al. (2007). Clinical evolution of Kearns-Sayre syndrome with polyendocrinopathy and respiratory failure. (external link)
• Ewen W. Sommerville; Yi Shiau Ng; Charlotte L. Alston et al. (2017). Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy. (external link)
• Charalampos Tzoulis; Stefan Johansson; Bjørn Ivar Haukanes et al. (2013). Novel SACS mutations identified by whole exome sequencing in a Norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. (external link)
• Anette Ramm-Pettersen; Karl Otto Nakken; Inger Marie Skogseid et al. (2013). Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study. (external link)
• Omar Hikmat; Karin Naess; Martin Engvall et al. (2024). Status epilepticus in POLG disease: a large multinational study. (external link)
• Jenni M. Lehtonen; Mari Auranen; Niklas Darin et al. (2020). Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease. (external link)
• Erle Kristensen; Linda Mathisen; Siren Berland et al. (2024). Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study. (external link)
• Charalampos Tzoulis; Eilen Holm Henriksen; Hrvoje Miletic et al. (2017). No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy. (external link)
• Omar Hikmat; Pirjo Isohanni; Nandaki Keshavan et al. (2021). Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease. (external link)
• Dario Brunetti; Janniche Torsvik; Cristina Dallabona et al. (2016). Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. (external link)
• Esther Downham; Synnøve Winterthun; Hanne Linda Nakkestad et al. (2008). A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance. (external link)
• Omar Hikmat; Kristin Nielsen Varhaug; Laurence Bindoff (2020). Polymerase gamma-relatert mitokondriesykdom. (external link)
• Charalompos Tzoulis; Tetyana Zayats; Per Knappskog et al. (2015). HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia. (external link)
• Kristin Nielsen Varhaug; Omar Hikmat; Laurence Albert Bindoff (2022). Mitokondriesykdom forårsaket av m.3243A>G-mutasjonen. (external link)
• Omar Hikmat; Karin Naess; Martin Engvall et al. (2020). The impact of gender, puberty, and pregnancy in patients with POLG disease. (external link)

Conference abstract

• Charalampos Tzoulis; Gia Tuong Thi Tran; Ivar Otto Gjerde et al. (2012). Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) caused by a novel mutation in DARS2. (external link)
• Arne Gramstad; Laurence Bindoff; Atle Lillebø et al. (2009). Neuropsychological performance of patients with polg1 mutation and epilepsy: evidence of more pronounced right than left hemisphere dysfunction?. (external link)
• VCM Neeve; B Van den Bosch; Gert van Goethem et al. (2010). What modifies the clinical presentation of the common homozygous p.A467T POLG mutation?. (external link)
• Charalampos Tzoulis; Gesche F Neckelmann; Sverre Mørk et al. (2010). Localized cerebral energy failure in mitochondrial polymerase gamma-associated encephalopathy. (external link)
• Laurence Bindoff; Torunn Fiskerstrand; D H'mida-Ben Brahim et al. (2010). Genetic characterisation of PHARC - a novel syndrome resembling Refsum's disease. (external link)
• Laurence Bindoff; S Winterthun; G Ferrari et al. (2004). Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. (external link)
• Charalampos Tzoulis; Bernt Engelsen; Wenche Telstad et al. (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. (external link)
• Petter S. Sanaker; Hanne Linda Nakkestad; E Downham et al. (2006). Late-onset mitochondrial encephalomyopathy with stroke-like episodes and novel mitochondrial DNA mutation. (external link)
• Bernt Engelsen; Charalampos Tzoulis; Massimo Zeviani et al. (2006). The clinical semiology of epilepsy in patients with mitochondriopathy due to polymerasegamma-(POLG) mutations. (external link)
• Laurence Bindoff (2011). MODELS OF MITOCHONDRIAL DISEASE AND HOW THESE ARE BEING USED TO IDENTIFY NOVEL TREATMENTS. (external link)
• Charalampos Tzoulis; Gia Tuong Thi Tran; Hrvoje Miletic et al. (2012). Polymerase gamma (POLG) associated encephalopathy is characterised by neuronal mtDNA depletion and respiratory complex-I deficiency. (external link)
• Charalampos Tzoulis; Hege Sætran; Sverre Mørk et al. (2009). MRI and neuropathology findings in three patients with the syndrome of mitochondrial spinocerebellar ataxia and epilepsy (MSCAE). (external link)
• Eino Juhani Palin; Anna Hakonen; Silja Heiskanen et al. (2006). Molecular background of mitochondrial recessive ataxia syndrome, MIRAS. (external link)
• Charalampos Tzoulis; Paola S. Denora; Laurence Bindoff (2007). Hereditary spastic paraplegia caused by the novel mutation 1047INSC in the SPG7 gene. (external link)
• Charalampos Tzoulis; Gunnar Moen; Laurence Bindoff (2007). Cerebral imaging in mitochondrial spinocerebellar ataxia caused by POLG mutations shows diagnostic specificity and provides insight into disease evolution. (external link)
• Stefen Brady; Julie Mack; Laurence Bindoff et al. (2013). Mast cell upregulation in inclusion body myositis: a role for neurogenic inflammation?. (external link)
• Petter Schandl Sanaker; Marina Toompuu; G McClorey et al. (2010). Antisense oligonucleotide correction of splice error in cultured ISCU myopathy muscle cells. (external link)

Editorial/Leader article

• Laurence Bindoff (2011). Når det vanligste ikke er forklaringen. (external link)

Letter to the editor

• Synnøve Jensen; Kjell Arne Arntzen; Kristin Ørstavik et al. (2018). Felles løft for pasienter med nevromuskulære sykdommer. (external link)
• Kristoffer Haugarvoll; Laurence Bindoff; Charalampos Tzoulis (2016). Nigrostriatal denervation sine parkinsonism. (external link)
• Laurence Bindoff (2007). Reply to Chinnery. (external link)
• Charalampos Tzoulis; Laurence Bindoff (2007). MELAS associated with mutations in the POLG1 gene. (external link)
• Laurence Albert Bindoff; David A. Brown; Gráinne S. Gorman et al. (2021). Comment on “A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome”. (external link)
• Krisztina K Johansen; Laurence Bindoff; Jana Rydland et al. (2008). Palatal tremor and facial dyskinesia in a patient with POLG1 mutation. (external link)
• Laurence Bindoff (2018). Future of neurologic examination in clinical practice. (external link)
• Christian A. Vedeler; Laurence Bindoff (2011). A family with atypical CADASIL. (external link)

Academic literature review

• Gerald Pfeffer; Rita Horvath; Thomas Klopstock et al. (2013). New treatments for mitochondrial disease-no time to drop our standards. (external link)
• Geir Olve Skeie; Harald Aurlien; Juliane S. Müller et al. (2006). Unusual features in a boy with the rapsyn N88K mutation. (external link)
• Dario Brunetti; Alessia Catania; Carlo Viscomi et al. (2021). Role of pitrm1 in mitochondrial dysfunction and neurodegeneration. (external link)
• Anna H Hakonen; Guido Davidzon; Renato Salemi et al. (2007). Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. (external link)
• Xiao Liang; Cecilie Katrin Kristiansen; Guro Helén Vatne et al. (2020). Patient-specific neural progenitor cells derived from induced pluripotent stem cells offer a promise of good models for mitochondrial disease. (external link)
• Yi Shiau Ng; Laurence Albert Bindoff; Gráinne S. Gorman et al. (2021). Mitochondrial disease in adults: recent advances and future promise. (external link)
• Theodoros Kyriakides; Corrado Angelini; Jochen Schaefer et al. (2013). EFNS review on the role of muscle biopsy in the investigation of myalgia. (external link)
• Omar Hikmat; Tom Eichele; Charalampos Tzoulis et al. (2017). Understanding the epilepsy in POLG related disease. (external link)

Master’s thesis

• Cecilie Katrin Kristiansen; Laurence Bindoff; Xiao Liang (2018). W748S POLG mutation induced mitochondrial changes in hiPSC-differentiated NSCs. (external link)
• Mojgan Pourmortazavi; Laurence Bindoff; Niels Aarsaether (2005). An analysis of mitochondrial DNA in young patients with stroke. (external link)
• Ina Katrine Nitschke Pettersen; Karl Johan Tronstad; Laurence Bindoff (2012). Mitochondrial function and metabolic stress tolerance in fibroblasts from patients with mutations in POLG. (external link)

Journal corrigendum

• Pedro Silva-Pinheiro; Carlos Pardo-Hernández; Aurelio Reyes et al. (2021). Erratum: Correction to 'DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion' (Nucleic acids research (2021) 49 9 (5230-5248)). (external link)
• Ahmed Jamali; Erle Kristensen; Trine Tangeraas et al. (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)). (external link)
• Omar Hikmat; Charalampos Tzoulis; Claus Klingenberg et al. (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). (external link)
• Omar Hikmat; Charalampos Tzoulis; Wui K. Chong et al. (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). (external link)

Popular science article

• Laurence Bindoff (2000). Muskelklinikken i Bergen. (external link)
• Laurence Albert Bindoff (2000). Muskelklinikken i Bergen. (external link)

Conference lecture

• Wenche Telstad; Laurence Albert Bindoff (2001). SCA 6 - en kasuistikk. (external link)
• Elisabeth Farbu; Laurence Albert Bindoff (2001). Doparesponsiv dystonia - an important differential diagnosis in children with gait disturbance. (external link)

Doctoral thesis (PhD)

• Novin Balafkan; Laurence Bindoff (2018). Modelling mitochondrial disease in cardiomyocytes generated from patient induced stem cells. (external link)

Conference poster

• Liv Lægreid; Laurence Albert Bindoff; Torvid Kiserud et al. (2001). Ponto-cerebellar hypoplasi and anterior horn cell disease in two siblings. (external link)
• Petter sandaker; T Leren; Hrvoje Miletic et al. (2014). Novel MYH7-mutations in Norwegian patients with distal myopathy. (external link)

See a complete overview of publications in NVA.