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Chinnery, Patrick F; Bindoff, Laurence Albert
(2003). Tthe treatment of mitochondrial disorders. (ekstern lenke)
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Howse, Mathew LP; Wardell, Theresa M; Fisher, Christopher J
et al. (2003). Late onset mitochondrial disorder with electromyographical evidence of myotonia. (ekstern lenke)
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Rekand, Tiina; Vedeler, C.; Gramstad, Arne
et al. (2003). Hashimoto's encephalopathy: a treatable cause of mental impairment, stroke and seizures. (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)
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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)
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Romi, Fredrik; Tysnes, Ole-Bjørn; Kråkenes, Jostein
et al. (2002). Cystic Dilatation of Virchow-Robin Spaces in the Midbrain. (ekstern lenke)
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Mellgren, Gunnar; Holm, Pål Ivar; Lien, Ernst Asbjørn
et al. (2002). Tyreotoksisk periodisk paralyse - en uvanlig komplikasjon ved hypertyreose. (ekstern lenke)
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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)
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Farbu, Elisabeth; Bindoff, Laurence Albert
(2002). Doparesponsiv dystoni - en arvelig dystoni som er lett å behandle. (ekstern lenke)
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Bindoff, Laurence Albert
(2002). A patient that changed my practice. (ekstern lenke)
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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)
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Hagen, Ellen M; Farbu, Elisabeth; Bindoff, Laurence Albert
(2001). Acute dystoni ved behandling med metoklopramid (Afipran). (ekstern lenke)
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Howell, N; Ghosh, SS; Fahy, E
et al. (2000). Longidudinal analysis of the segregation of mtDNA mutations in heteroplasm individuals. (ekstern lenke)
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Chinnery, PF; Johnson, MA; Wardell, TM
et al. (2000). The epidemiology of pathogenic mitochondrial DNA mutations. (ekstern lenke)
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Howell, N; Ghosh, SS; Fahy, E
et al. (2000). Longidudinal analysis of the segregation of mtDNA mutations in heteroplasm individuals. (ekstern lenke)
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Chinnery, PF; Johnson, MA; Wardell, TM
et al. (2000). The epidemiology of pathogenic mitochondrial DNA mutations. (ekstern lenke)
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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)
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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)
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Chinnery, PF; Zwijnenburg, PJG; Walker, M
et al. (1999). Non-radom tissue distribution of mutant mtDNA in humans. (ekstern lenke)
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Hofman, S; Tiranti, V; Comi, G-P
et al. (1999). Loss of function SURF I mutations in cytochrome c oxidase deficiency. (ekstern lenke)
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Bindoff, Laurence
(1999). Treatment of mitochondrial disorders: practical and theoretical issues. (ekstern lenke)
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Howse, M; Bindoff, Laurence; Carmichael, A
(1998). Facial vasculitic rash associated with intravenous immuglobulin. (ekstern lenke)
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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)
Errata
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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)
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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)
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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)
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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)
Brev til redaktøren
Vitenskapelig oversiktsartikkel/review
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Brunetti, Dario; Catania, Alessia; Viscomi, Carlo
et al. (2021). Role of pitrm1 in mitochondrial dysfunction and neurodegeneration. (ekstern lenke)
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Ng, Yi Shiau; Bindoff, Laurence Albert; Gorman, Gráinne S.
et al. (2021). Mitochondrial disease in adults: recent advances and future promise. (ekstern lenke)
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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)
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Hikmat, Omar; Eichele, Tom; Tzoulis, Charalampos
et al. (2017). Understanding the epilepsy in POLG related disease. (ekstern lenke)
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Pfeffer, Gerald; Horvath, Rita; Klopstock, Thomas
et al. (2013). New treatments for mitochondrial disease-no time to drop our standards. (ekstern lenke)
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Kyriakides, Theodoros; Angelini, Corrado; Schaefer, Jochen
et al. (2013). EFNS review on the role of muscle biopsy in the investigation of myalgia. (ekstern lenke)
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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)
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Skeie, Geir Olve; Aurlien, Harald; Müller, Juliane S.
et al. (2006). Unusual features in a boy with the rapsyn N88K mutation. (ekstern lenke)
Doktorgradsavhandling
Leserinnlegg
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Jensen, Synnøve; Arntzen, Kjell Arne; Ørstavik, Kristin
et al. (2018). Felles løft for pasienter med nevromuskulære sykdommer. (ekstern lenke)
-
Vedeler, Christian A.; Bindoff, Laurence
(2011). A family with atypical CADASIL. (ekstern lenke)
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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)
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Tzoulis, Charalampos; Bindoff, Laurence
(2007). MELAS associated with mutations in the POLG1 gene. (ekstern lenke)
Mastergradsoppgave
Short communication
Vitenskapelig Kapittel/Artikkel/Konferanseartikkel
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Bindoff, Laurence
(2015). Myopathies. (ekstern lenke)
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Zeviani, Massimo; Simonati, Alessandro; Bindoff, Laurence
(2012). Ataxia in mitochondrial disorders. (ekstern lenke)
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Bindoff, Laurence; Engelsen, Bernt
(2011). Mitochondrial cytopathies. (ekstern lenke)
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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
Sammendrag/abstract
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Brady, Stefen; Mack, Julie; Bindoff, Laurence
et al. (2013). Mast cell upregulation in inclusion body myositis: a role for neurogenic inflammation?. (ekstern lenke)
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Tzoulis, Charalampos; Tran, Gia Tuong Thi; Gjerde, Ivar Otto
et al. (2012). Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) caused by a novel mutation in DARS2. (ekstern lenke)
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Tzoulis, Charalampos; Tran, Gia Tuong Thi; Miletic, Hrvoje
et al. (2012). Polymerase gamma (POLG) associated encephalopathy is characterised by neuronal mtDNA depletion and respiratory complex-I deficiency. (ekstern lenke)
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Bindoff, Laurence
(2011). MODELS OF MITOCHONDRIAL DISEASE AND HOW THESE ARE BEING USED TO IDENTIFY NOVEL TREATMENTS. (ekstern lenke)
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Sanaker, Petter Schandl; Toompuu, Marina; McClorey, G
et al. (2010). Antisense oligonucleotide correction of splice error in cultured ISCU myopathy muscle cells. (ekstern lenke)
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Neeve, VCM; Van den Bosch, B; van Goethem, Gert
et al. (2010). What modifies the clinical presentation of the common homozygous p.A467T POLG mutation?. (ekstern lenke)
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Bindoff, Laurence; Fiskerstrand, Torunn; H'mida-Ben Brahim, D
et al. (2010). Genetic characterisation of PHARC - a novel syndrome resembling Refsum's disease. (ekstern lenke)
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Tzoulis, Charalampos; Neckelmann, Gesche F; Mørk, Sverre
et al. (2010). Localized cerebral energy failure in mitochondrial polymerase gamma-associated encephalopathy. (ekstern lenke)
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Tzoulis, Charalampos; Sætran, Hege; Mørk, Sverre
et al. (2009). MRI and neuropathology findings in three patients with the syndrome of mitochondrial spinocerebellar ataxia and epilepsy (MSCAE). (ekstern lenke)
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Gramstad, Arne; Bindoff, Laurence; Lillebø, Atle
et al. (2009). Neuropsychological performance of patients with polg1 mutation and epilepsy: evidence of more pronounced right than left hemisphere dysfunction?. (ekstern lenke)
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Tzoulis, Charalampos; Moen, Gunnar; Bindoff, Laurence
(2007). Cerebral imaging in mitochondrial spinocerebellar ataxia caused by POLG mutations shows diagnostic specificity and provides insight into disease evolution. (ekstern lenke)
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Tzoulis, Charalampos; Denora, Paola S.; Bindoff, Laurence
(2007). Hereditary spastic paraplegia caused by the novel mutation 1047INSC in the SPG7 gene. (ekstern lenke)
-
Sanaker, Petter S.; Nakkestad, Hanne Linda; Downham, E
et al. (2006). Late-onset mitochondrial encephalomyopathy with stroke-like episodes and novel mitochondrial DNA mutation. (ekstern lenke)
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Palin, Eino Juhani; Hakonen, Anna; Heiskanen, Silja
et al. (2006). Molecular background of mitochondrial recessive ataxia syndrome, MIRAS. (ekstern lenke)
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Engelsen, Bernt; Tzoulis, Charalampos; Zeviani, Massimo
et al. (2006). The clinical semiology of epilepsy in patients with mitochondriopathy due to polymerasegamma-(POLG) mutations. (ekstern lenke)
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Tzoulis, Charalampos; Engelsen, Bernt; Telstad, Wenche
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. (ekstern lenke)
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Bindoff, Laurence; Winterthun, S; Ferrari, G
et al. (2004). Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. (ekstern lenke)
Leder
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