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Vitenskapelig artikkel
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Pedro Silva-Pinheiro; Carlos Pardo-Hernández; Aurelio Reyes
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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. (ekstern lenke)
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et al. (2012). Focal myositis - A neurogenic phenomenon?. (ekstern lenke)
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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. (ekstern lenke)
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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. (ekstern lenke)
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Maaike C. De Vries; David A. Brown; Mitchell E. Allen
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Anbin Chen; Tsering Yangzom; Yu Hong
et al. (2024). Hallmark Molecular and Pathological Features of POLG Disease are Recapitulated in Cerebral Organoids. (ekstern lenke)
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Iselin Marie Wedding; Jeanette Koht; Gia Tuong Thi Tran
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et al. (2009). Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations. (ekstern lenke)
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Charalampos Tzoulis; Paola S. Denora; Filippo M Santorelli
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Omar Hikmat; Bente Johanne Vederhus; Merete Røineland Benestad
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PADMANABH SHRIKANT BHATT; Charalampos Tzoulis; Novin Balafkan
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S Bidooki; MJ Jackson; MA Johnson
et al. (2004). Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNA(Ser(UCN)) gene. (ekstern lenke)
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Kristin Varhaug; Christian A. Vedeler; Charalampos Tzoulis
et al. (2017). Multippel sklerose - en mitokondriemediert sykdom?. (ekstern lenke)
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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. (ekstern lenke)
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Arne Gramstad; Laurence Bindoff; Atle Lillebø
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Ilaria Mannucci; Nghi D. P. Dang; Hannes Huber
et al. (2021). Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. (ekstern lenke)
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Elisabeth Farbu; Laurence Albert Bindoff
(2002). Doparesponsiv dystoni - en arvelig dystoni som er lett å behandle. (ekstern lenke)
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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. (ekstern lenke)
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Omar Hikmat; Karin Naess; Martin Engvall
et al. (2024). Status epilepticus in POLG disease: a large multinational study. (ekstern lenke)
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Dario Brunetti; Janniche Torsvik; Cristina Dallabona
et al. (2016). Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. (ekstern lenke)
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Charalampos Tzoulis; Christian A. Vedeler; Mette Haugen
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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. (ekstern lenke)
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N Howell; SS Ghosh; E Fahy
et al. (2000). Longidudinal analysis of the segregation of mtDNA mutations in heteroplasm individuals. (ekstern lenke)
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Ellen M Hagen; Elisabeth Farbu; Laurence Albert Bindoff
(2001). Acute dystoni ved behandling med metoklopramid (Afipran). (ekstern lenke)
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Charalampos Tzoulis; Thomas Schwarzlmüller; Martin Biermann
et al. (2016). Mitochondrial DNA homeostasis is essential for nigrostriatal integrity. (ekstern lenke)
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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. (ekstern lenke)
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K Bushby; LV Anderson; C Pollitt
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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. (ekstern lenke)
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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). (ekstern lenke)
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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. (ekstern lenke)
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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). (ekstern lenke)
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Laurence Bindoff
(2004). Sporadic mitochondrial myopathy due to a new mutation in the mitochondric tRNASer/UCN) gene. (ekstern lenke)
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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. (ekstern lenke)
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Laurence Bindoff
(2004). Risk of developing a mitochondrial DNA deletion disorder. (ekstern lenke)
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Hilde Haugedal Nordal; Bård Reiakvam Kittang; Laurence Bindoff
(2010). Rhabdomyolysis after group C streptococcal infection. (ekstern lenke)
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Kristin Nielsen Varhaug; Gonzalo Sanchez Nido; Irenaeus de Coo
et al. (2020). Using urine to diagnose large-scale mtDNA deletions in adult patients. (ekstern lenke)
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Zhuoyuan Zhang; Xiao Liang; Yaping Fan
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Kevin White; Yu Lu; Sofia Annis
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Jaran Apold; Laurence Bindoff
(2011). A new malformation syndrome with congenital arthrogryposis and severe hyperkeratosis. (ekstern lenke)
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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. (ekstern lenke)
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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. (ekstern lenke)
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K Maniura-Weber; RW Taylor; MA Johnson
et al. (2004). A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome. (ekstern lenke)
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Kristoffer Haugarvoll; Stefan Johansson; Charalampos Tzoulis
et al. (2013). MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. (ekstern lenke)
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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. (ekstern lenke)
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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. (ekstern lenke)
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Petter Schandl Sanaker; Eystein S.Junior Husebye; Ove Fondenes
et al. (2007). Clinical evolution of Kearns-Sayre syndrome with polyendocrinopathy and respiratory failure. (ekstern lenke)
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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. (ekstern lenke)
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Charalampos Tzoulis; Eilen Holm Henriksen; Hrvoje Miletic
et al. (2017). No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy. (ekstern lenke)
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Kristin Nielsen Varhaug; Omar Hikmat; Laurence Albert Bindoff
(2022). Mitokondriesykdom forårsaket av m.3243A>G-mutasjonen. (ekstern lenke)
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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. (ekstern lenke)
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PF Chinnery; MA Johnson; TM Wardell
et al. (2000). The epidemiology of pathogenic mitochondrial DNA mutations. (ekstern lenke)
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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. (ekstern lenke)
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Laurence Bindoff; Charalampos Tzoulis
(2011). Defining the mitochondrial POLG-related spinocerebellar ataxia and epilepsy in Norway. (ekstern lenke)
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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. (ekstern lenke)
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Alessia Di Donfrancesco; Christian Berlingieri; Marta Giacomello
et al. (2023). PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients. (ekstern lenke)
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N Howell; SS Ghosh; E Fahy
et al. (2000). Longidudinal analysis of the segregation of mtDNA mutations in heteroplasm individuals. (ekstern lenke)
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Yi Shiau Ng; Laurence Albert Bindoff; Gráinne S. Gorman
et al. (2019). Consensus-based statements for the management of mitochondrial stroke-like episodes. (ekstern lenke)
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Patrick Yu-Wai-Man; Philip G. Griffiths; Grainne S. Gorman
et al. (2010). Multi-system neurological disease is common in patients with OPA1 mutations. (ekstern lenke)
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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. (ekstern lenke)
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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. (ekstern lenke)
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John Vissing; Rita Barresi; Nanna Witting
et al. (2016). A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. (ekstern lenke)
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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. (ekstern lenke)
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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. (ekstern lenke)
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Xiao Liang; Anbin Chen; Atefeh Kianian
et al. (2024). Activation of Neurotoxic Astrocytes Due to Mitochondrial Dysfunction Triggered by POLG Mutation. (ekstern lenke)
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Fredrik Romi; Ole-Bjørn Tysnes; Jostein Kråkenes
et al. (2002). Cystic Dilatation of Virchow-Robin Spaces in the Midbrain. (ekstern lenke)
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Ian J. Wilson; Phillipa J. Carling; Charlotte L. Alston
et al. (2016). Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck. (ekstern lenke)
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Mathew LP Howse; Theresa M Wardell; Christopher J Fisher
et al. (2003). Late onset mitochondrial disorder with electromyographical evidence of myotonia. (ekstern lenke)
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Kalliopi Sofou; Irenaeus F.M. De Coo; Pirjo Isohanni
et al. (2014). A multicenter study on Leigh syndrome: Disease course and predictors of survival. (ekstern lenke)
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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. (ekstern lenke)
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Z Chrzanowska-Lightowlers; RJ Temperley; A McGregor
et al. (1999). Conversion of a reporter gene for mitochondrial gene expression using iterative mega-prime PCR. (ekstern lenke)
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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. (ekstern lenke)
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Enrico Baruffini; Rita Horvath; Cristina Dallabona
et al. (2011). Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. (ekstern lenke)
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Vibeke Arntsen; Trond Sand; Omar Hikmat
et al. (2021). A characteristic occipital epileptiform EEG pattern in ADCK3-related mitochondrial disease. (ekstern lenke)
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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. (ekstern lenke)
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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. (ekstern lenke)
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Andrea Martinuzzi; Elena Sartori; Marina Fanin
et al. (2003). Phenotype modulators in myophosphorylase deficiency. (ekstern lenke)
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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. (ekstern lenke)
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Charalompos Tzoulis; Tetyana Zayats; Per Knappskog
et al. (2015). HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia. (ekstern lenke)
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Omar Hikmat; Karin Naess; Martin Engvall
et al. (2020). The impact of gender, puberty, and pregnancy in patients with POLG disease. (ekstern lenke)
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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. (ekstern lenke)
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Christian Dölle; Irene Hana Flønes; Gonzalo Sanchez Nido
et al. (2016). Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease. (ekstern lenke)
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Kristoffer Haugarvoll; Charalampos Tzoulis; Gia Tuong Thi Tran
et al. (2014). Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. (ekstern lenke)
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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. (ekstern lenke)
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Kristin Nielsen Varhaug; Christian Barro; Kjetil Lauvland Bjørnevik
et al. (2017). Neurofilament light chain predicts disease activity in relapsing-remitting MS. (ekstern lenke)
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Charalampos Tzoulis; Gia Tuong Thi Tran; Jonathan Coxhead
et al. (2014). Molecular pathogenesis of polymerase gamma-related neurodegeneration. (ekstern lenke)
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Ahmed Jamali; Erle Kristensen; Trine Tangeraas
et al. (2023). The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study. (ekstern lenke)
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Laurence Bindoff
(1999). Treatment of mitochondrial disorders: practical and theoretical issues. (ekstern lenke)
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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. (ekstern lenke)
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Omar Hikmat; Charalampos Tzoulis; Per Knappskog
et al. (2016). ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?. (ekstern lenke)
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Omar Hikmat; Karin Naess; Martin Engvall
et al. (2018). Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications. (ekstern lenke)
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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. (ekstern lenke)
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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. (ekstern lenke)
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Synnøve Winterthun; Gianfrancesco Ferrari; Langping He
et al. (2005). Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. (ekstern lenke)
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Cecilie Katrin Kristiansen; Anbin Chen; Lena Elise Høyland
et al. (2022). Comparing the mitochondrial signatures in ESCs and iPSCs and their neural derivations. (ekstern lenke)
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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. (ekstern lenke)
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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. (ekstern lenke)
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Laurence Bindoff
(2011). Mitochondrial function and pathology in status epilepticus. (ekstern lenke)
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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. (ekstern lenke)
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Kristin Nielsen Varhaug; Omar Hikmat; Hanne Linda Nakkestad
et al. (2021). Serum biomarkers in primary mitochondrial disorders. (ekstern lenke)
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Petter Schandl Sanaker; Stian Lindland; Frode Rekeland
et al. (2007). En mann med progredierende spastisk paraparese. (ekstern lenke)
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Patrick F Chinnery; Laurence Albert Bindoff
(2003). Tthe treatment of mitochondrial disorders. (ekstern lenke)
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Elisabeth Farbu; Eirik Softeland; Laurence Albert Bindoff
(2003). Anaesthetic complications associated with myotonia congenita: case study and comparison with other myotonic disorders. (ekstern lenke)
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J Pang; R Allotey; N Wadia
et al. (1999). A common disease haploltype segretating in spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin. (ekstern lenke)
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Ida Stenshorne; Magnhild Rasmussen; Panagiotis Salvanos
et al. (2019). Fever-related ataxia: A case report of CAPOS syndrome. (ekstern lenke)
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Petter Schandl Sanaker; Marina Toompuu; Vanessa E. Hogan
et al. (2010). Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy. (ekstern lenke)
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Gunnar Mellgren; Pål Ivar Holm; Ernst Asbjørn Lien
et al. (2002). Tyreotoksisk periodisk paralyse - en uvanlig komplikasjon ved hypertyreose. (ekstern lenke)
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Sharika Marjan; Tsering Yangzom; Cecilie Katrin Kristiansen
et al. (2023). Application of Flow Cytometric Analysis for Measuring Multiple Mitochondrial Parameters in 3D Brain Organoids. (ekstern lenke)
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Tiina Rekand; C. Vedeler; Arne Gramstad
et al. (2003). Hashimoto's encephalopathy: a treatable cause of mental impairment, stroke and seizures. (ekstern lenke)
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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. (ekstern lenke)
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M Howse; Laurence Bindoff; A Carmichael
(1998). Facial vasculitic rash associated with intravenous immuglobulin. (ekstern lenke)
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Omar Hikmat; Charalampos Tzoulis; Claus Klingenberg
et al. (2017). The presence of anaemia negatively influences survival in patients with POLG disease. (ekstern lenke)
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Laurence Albert Bindoff; Nils Erik Gilhus
(2003). Arvelige muskelsykdommer. (ekstern lenke)
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Marte Helene Bjørk; Ivar Otto Gjerde; Charalampos Tzoulis
et al. (2015). En mann i 50-årene med høyt ferritinnivå og økende kognitiv svikt. (ekstern lenke)
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Eva Stensland; Sigurd Lindal; Christoffer Jonsrud
et al. (2011). Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I. (ekstern lenke)
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Hannah Hayhurst; Maria-Eleni Anagnostou; Helen J. Bogle
et al. (2018). Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study. (ekstern lenke)
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Laurence Bindoff; Bernt Engelsen
(2012). Mitochondrial diseases and epilepsy. (ekstern lenke)
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Oscar Lao; Timothy T. Lu; Michael Nothnagel
et al. (2008). Correlation between genetic and geographic structure in Europe. (ekstern lenke)
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Laurence Albert Bindoff
(2002). A patient that changed my practice. (ekstern lenke)
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Ewen W. Sommerville; Yi Shiau Ng; Charlotte L. Alston
et al. (2017). Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy. (ekstern lenke)
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Omar Hikmat; Pirjo Isohanni; Nandaki Keshavan
et al. (2021). Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease. (ekstern lenke)
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Omar Hikmat; Kristin Nielsen Varhaug; Laurence Bindoff
(2020). Polymerase gamma-relatert mitokondriesykdom. (ekstern lenke)
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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. (ekstern lenke)
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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. (ekstern lenke)
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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. (ekstern lenke)
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Kristoffer Haugarvoll; Laurence Bindoff
(2011). A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype. (ekstern lenke)
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Xiao Liang; Cecilie Katrin Kristiansen; Sepideh Mostafavi
et al. (2020). Disease-specific phenotypes in iPSC-derived neural stem cells with POLG mutations. (ekstern lenke)
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PF Chinnery; MA Johnson; TM Wardell
et al. (2000). The epidemiology of pathogenic mitochondrial DNA mutations. (ekstern lenke)
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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. (ekstern lenke)
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Charalampos Tzoulis; Gia Tuong Thi Tran; Thomas Schwarzlmüller
et al. (2013). Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations. (ekstern lenke)
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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. (ekstern lenke)
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Christian Dölle; Laurence Bindoff; Charalampos Tzoulis
(2018). 3,3'-Diaminobenzidine staining interferes with PCR-based DNA analysis. (ekstern lenke)
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Laurence Bindoff; N Mjellem; K Sommerfelt
et al. (2006). Severe fascioscapulohumeral muscular dystrophy presenting with Coats' disease and mental retardation. (ekstern lenke)
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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. (ekstern lenke)
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Charalampos Tzoulis; Laurence Bindoff
(2009). Serial Diffusion Imaging in a Case of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes. (ekstern lenke)
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Laurence Bindoff
(2004). Muscular diseases in the sun. (ekstern lenke)
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Bernt Engelsen; Charalampos Tzoulis; Bjørn Karlsen
et al. (2008). POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. (ekstern lenke)
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Sarah K. Holman; Phil Daniel; Zandra A. Jenkins
et al. (2011). The male phenotype in osteopathia striata congenita with cranial sclerosis. (ekstern lenke)
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Torunn Fiskerstrand; Per Knappskog; Jacek Majewski
et al. (2009). A novel Refsum-like disorder that maps to chromosome 20. (ekstern lenke)
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Petter Schandl Sanaker; Marina Toompuu; Graham McClorey
et al. (2012). Antisense oligonucleotide corrects splice abnormality in hereditary myopathy with lactic acidosis. (ekstern lenke)
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Kristoffer Haugarvoll; Stefan Johansson; Carlos E. Rodriguez
et al. (2017). GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies. (ekstern lenke)
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Charalampos Tzoulis; Laurence Bindoff
(2012). Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects. (ekstern lenke)
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Richard J. Temperley; Sara H Seneca; Katarzyna Tonska
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Masteroppgave
Rettelse i tidsskrift
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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)). (ekstern lenke)
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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). (ekstern lenke)
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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)). (ekstern lenke)
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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). (ekstern lenke)
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