Vitenskapelig artikkel

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

Errata

• Jamali, Ahmed; Kristensen, Erle; Tangeraas, Trine 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)). (ekstern lenke)
• Silva-Pinheiro, Pedro; Pardo-Hernández, Carlos; Reyes, Aurelio 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)). (ekstern lenke)
• Hikmat, Omar; Tzoulis, Charalampos; Chong, Wui K. 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). (ekstern lenke)
• Hikmat, Omar; Tzoulis, Charalampos; Klingenberg, Claus 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). (ekstern lenke)

Vitenskapelig oversiktsartikkel/review

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

Leserinnlegg

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

Mastergradsoppgave

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

Doktorgradsavhandling

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

Vitenskapelig Kapittel/Artikkel/Konferanseartikkel

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

Poster

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

Leder

• Bindoff, Laurence (2011). Når det vanligste ikke er forklaringen. (ekstern lenke)

Vitenskapelig foredrag

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

Populærvitenskapelig artikkel

• Bindoff, Laurence (2000). Muskelklinikken i Bergen. (ekstern lenke)
• Bindoff, Laurence Albert (2000). Muskelklinikken i Bergen. (ekstern lenke)

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