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Articles (39)
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Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population

Novin Balafkan, Charalampos Tzoulis, Bernd Müller, Kristoffer Haugarvoll, Ole-Bjørn Tysnes, Jan Petter Larsen, Laurence A. Bindoff

Journal:

Mitochondrion

Année:

2012

Langue:

english

Fichier:

PDF, 221 KB

english, 2012

A multicenter study on Leigh syndrome: disease course and predictors of survival

Sofou, Kalliopi, De Coo, Irenaeus F M, Isohanni, Pirjo, Ostergaard, Elsebet, Naess, Karin, De Meirleir, Linda, Tzoulis, Charalampos, Uusimaa, Johanna, De Angst, Isabell B, Lönnqvist, Tuula, Pihko, Hel

Journal:

Orphanet Journal of Rare Diseases

Année:

2014

Langue:

english

Fichier:

PDF, 770 KB

english, 2014

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations

Hikmat, Omar, Tzoulis, Charalampos, Chong, Wui K, Chentouf, Latifa, Klingenberg, Claus, Fratter, Carl, Carr, Lucinda J, Prabhakar, Prab, Kumaraguru, Nandhini, Gissen, Paul, Cross, J Helen, Jacques, Th

Journal:

Genetics in Medicine

Année:

2017

Langue:

english

Fichier:

PDF, 1.10 MB

english, 2017

Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations

Hikmat, Omar, Tzoulis, Charalampos, Chong, Wui K., Chentouf, Latifa, Klingenberg, Claus, Fratter, Carl, Carr, Lucinda J., Prabhakar, Prab, Kumaraguru, Nandhini, Gissen, Paul, Cross, J. Helen, Jacques,

Journal:

Genetics in Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 142 KB

english, 2018

Targeting NAD+ in translational research to relieve diseases and conditions of metabolic stress and ageing

Gilmour, Brian C., Gudmundsrud, Ruben, Frank, Johannes, Hov, Amund, Hindkjær Lautrup, Sofie, Aman, Yahyah, Røsjø, Helge, Brenner, Charles, Ziegler, Mathias, Tysnes, Ole-Bjørn, Tzoulis, Charalampos, Om

Journal:

Mechanisms of Ageing and Development

Année:

2020

Fichier:

PDF, 1.31 MB

2020

Mitochondrial respiratory chain deficiency correlates with the severity of neuropathology in sporadic Creutzfeldt-Jakob disease

FlÃ¸nes, Irene H., Ricken, Gerda, Klotz, Sigrid, Lang, Alexandra, StrÃ¶bel, Thomas, DÃ¶lle, Christian, Kovacs, Gabor G., Tzoulis, Charalampos

Journal:

Acta Neuropathologica Communications

Année:

2020

Fichier:

PDF, 12.53 MB

2020

Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in theDARS2gene

Charalampos Tzoulis, Gia Tuong Tran, Ivar Otto Gjerde, Jan Aasly, Gesche Neckelmann, Jana Rydland, Viktoria Varga, Pia Wadel-Andersen, Laurence A. Bindoff

Journal:

Journal of Neurology

Année:

2012

Langue:

english

Fichier:

PDF, 327 KB

english, 2012

Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy

Petter S. Sanaker, Marina Toompuu, Vanessa E. Hogan, Langping He, Charalampos Tzoulis, Zofia M.A. Chrzanowska-Lightowlers, Robert W. Taylor, Laurence A. Bindoff

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Année:

2010

Langue:

english

Fichier:

PDF, 350 KB

english, 2010

Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy

Arne Gramstad, Laurence A. Bindoff, Atle Lillebø, Charalampos Tzoulis, Bernt A. Engelsen

Journal:

Epilepsy & Behavior

Année:

2009

Langue:

english

Fichier:

PDF, 132 KB

english, 2009

Erdheim–Chester disease presenting with an intramedullary spinal cord lesion

Tzoulis, Charalampos, Gjerde, Ivar Otto, Søfteland, Eirik, Neckelmann, Gesche, Strøm, Eivind, Vintermyr, Olav Karsten, Sviland, Lisbeth, Biermann, Martin

Journal:

Journal of Neurology

Année:

2012

Langue:

english

Fichier:

PDF, 269 KB

english, 2012

Progressive striatal necrosis associated with anti-NMDA receptor antibodies

Charalampos Tzoulis, Christian Vedeler, Mette Haugen, Anette Storstein…

Journal:

BMC Neurology

Année:

2013

Langue:

english

Fichier:

PDF, 494 KB

english, 2013

Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation

Haugarvoll, Kristoffer, Tzoulis, Charalampos, Tran, Gia T., Karlsen, Bjørn, Engelsen, Bernt A., Knappskog, Per M., Bindoff, Laurence A.

Journal:

Journal of Neurology

Année:

2014

Langue:

english

Fichier:

PDF, 222 KB

english, 2014

Molecular pathogenesis of polymerase gamma-related neurodegeneration

Tzoulis, Charalampos, Tran, Gia Tuong, Coxhead, Jonathan, Bertelsen, Bjørn, Lilleng, Peer K., Balafkan, Novin, Payne, Brendan, Miletic, Hrvoje, Chinnery, Patrick F., Bindoff, Laurence A.

Journal:

Annals of Neurology

Année:

2014

Langue:

english

Fichier:

PDF, 2.01 MB

english, 2014

HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia

Tzoulis, Charalampos, Zayats, Tetyana, Knappskog, Per Morten, Müller, Bernd, Larsen, Jan Petter, Tysnes, Ole-Bjørn, Bindoff, Laurence A., Johansson, Stefan, Haugarvoll, Kristoffer

Journal:

Proceedings of the National Academy of Sciences

Année:

2015

Langue:

english

Fichier:

PDF, 541 KB

english, 2015

Excellent response of intramedullary Erdheim-Chester disease to vemurafenib: a case report

Tzoulis, Charalampos, Schwarzlmüller, Thomas, Gjerde, Ivar Otto, Søfteland, Eirik, Neckelmann, Gesche, Biermann, Martin, Haroche, Julien, Straume, Oddbjørn, Vintermyr, Olav Karsten

Journal:

BMC Research Notes

Année:

2015

Langue:

english

Fichier:

PDF, 2.73 MB

english, 2015

Nigrostriatal denervation sine parkinsonism: Table 1

Haugarvoll, Kristoffer, Bindoff, Laurence A., Tzoulis, Charalampos

Journal:

Brain

Année:

2016

Langue:

english

Fichier:

PDF, 174 KB

english, 2016

Mitochondrial DNA homeostasis is essential for nigrostriatal integrity

Tzoulis, Charalampos, Schwarzlmüller, Thomas, Biermann, Martin, Haugarvoll, Kristoffer, Bindoff, Laurence A.

Journal:

Mitochondrion

Année:

2016

Langue:

english

Fichier:

PDF, 514 KB

english, 2016

No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy

Tzoulis, Charalampos, Henriksen, Eilen, Miletic, Hrvoje, Bindoff, Laurence A.

Journal:

Mitochondrion

Année:

2017

Langue:

english

Fichier:

PDF, 3.41 MB

english, 2017

Familial aggregation of Parkinson's disease may affect progression of motor symptoms and dementia

Gaare, Johannes Jernqvist, Skeie, Geir Olve, Tzoulis, Charalampos, Larsen, Jan Petter, Tysnes, Ole-Bjørn

Journal:

Movement Disorders

Année:

2017

Langue:

english

Fichier:

PDF, 204 KB

english, 2017

Simvastatin is associated with decreased risk of Parkinson disease

Brakedal, Brage, Haugarvoll, Kristoffer, Tzoulis, Charalampos

Journal:

Annals of Neurology

Année:

2017

Langue:

english

Fichier:

PDF, 616 KB

english, 2017

Increased levels of cell-free mitochondrial DNA in the cerebrospinal fluid of patients with multiple sclerosis

Varhaug, Kristin N., Vedeler, Christian A., Myhr, Kjell-Morten, Aarseth, Jan Harald, Tzoulis, Charalampos, Bindoff, Laurence A.

Journal:

Mitochondrion

Année:

2016

Langue:

english

Fichier:

PDF, 591 KB

english, 2016

In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins

Pakdaman, Yasaman, Sanchez-Guixé, Monica, Kleppe, Rune, Erdal, Sigrid, Bustad, Helene J., Bjørkhaug, Lise, Haugarvoll, Kristoffer, Tzoulis, Charalampos, Heimdal, Ketil, Knappskog, Per M., Johansson, S

Journal:

Bioscience Reports

Année:

2017

Langue:

english

Fichier:

PDF, 1.65 MB

english, 2017

The presence of anaemia negatively influences survival in patients with POLG disease

Hikmat, Omar, Charalampos, Tzoulis, Klingenberg, Claus, Rasmussen, Magnhild, Tallaksen, Chantal M. E., Brodtkorb, Eylert, Fiskerstrand, Torunn, McFarland, Robert, Rahman, Shamima, Bindoff, Laurence A.

Journal:

Journal of Inherited Metabolic Disease

Année:

2017

Langue:

english

Fichier:

PDF, 564 KB

english, 2017

Glitazone use associated with reduced risk of Parkinson's disease

Brakedal, Brage, Flønes, Irene, Reiter, Simone F., Torkildsen, Øivind, Dölle, Christian, Assmus, Jörg, Haugarvoll, Kristoffer, Tzoulis, Charalampos

Journal:

Movement Disorders

Année:

2017

Langue:

english

Fichier:

PDF, 423 KB

english, 2017

Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease

Hikmat, Omar, Tzoulis, Charalampos, Klingenberg, Claus, Rasmussen, Magnhild, Tallaksen, Chantal M. E., Brodtkorb, Eylert, Fiskerstrand, Torunn, McFarland, Robert, Rahman, Shamima, Bindoff, Laurence A.

Journal:

Journal of Inherited Metabolic Disease

Année:

2017

Langue:

english

Fichier:

PDF, 277 KB

english, 2017

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients

Sofou, Kalliopi, de Coo, Irenaeus F M, Ostergaard, Elsebet, Isohanni, Pirjo, Naess, Karin, De Meirleir, Linda, Tzoulis, Charalampos, Uusimaa, Johanna, Lönnqvist, Tuula, Bindoff, Laurence Albert, Tulin

Journal:

Journal of Medical Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 1.10 MB

english, 2017

Ultradeep mapping of neuronal mitochondrial deletions in Parkinson's disease

Nido, Gonzalo S., Dölle, Christian, Flønes, Irene, Tuppen, Helen A., Alves, Guido, Tysnes, Ole-Bjørn, Haugarvoll, Kristoffer, Tzoulis, Charalampos

Journal:

Neurobiology of Aging

Année:

2018

Langue:

english

Fichier:

PDF, 1.24 MB

english, 2018

3,3′-Diaminobenzidine staining interferes with PCR-based DNA analysis

Dölle, Christian, Bindoff, Laurence A., Tzoulis, Charalampos

Journal:

Scientific Reports

Année:

2018

Langue:

english

Fichier:

PDF, 1.29 MB

english, 2018

Beta-propeller protein-associated neurodegeneration: a case report and review of the literature

Stige, Kjersti Eline, Gjerde, Ivar Otto, Houge, Gunnar, Knappskog, Per Morten, Tzoulis, Charalampos

Journal:

Clinical Case Reports

Année:

2018

Langue:

english

Fichier:

PDF, 705 KB

english, 2018

Alzheimer disease associated variants in SORL1 accelerate dementia development in Parkinson disease

Maple-Grødem, Jodi, Chung, Janete, Lunde, Kristin Aaser, Tzoulis, Charalampos, Tysnes, Ole-Bjørn, Pedersen, Kenn Freddy, Alves, Guido

Journal:

Neuroscience Letters

Année:

2018

Langue:

english

Fichier:

PDF, 661 KB

english, 2018

Movement disorders in mitochondrial disease

Flønes, Irene H., Tzoulis, Charalampos

Journal:

Current Opinion in Neurology

Année:

2018

Langue:

english

Fichier:

PDF, 612 KB

english, 2018

Association of glucocerebrosidase polymorphisms and mutations with dementia in incident Parkinson's disease

Lunde, Kristin Aaser, Chung, Janete, Dalen, Ingvild, Pedersen, Kenn Freddy, Linder, Jan, Domellöf, Magdalena E., Elgh, Eva, Macleod, Angus D., Tzoulis, Charalampos, Larsen, Jan Petter, Tysnes, Ole-Bjø

Journal:

Alzheimer's & Dementia

Année:

2018

Langue:

english

Fichier:

PDF, 1014 KB

english, 2018

Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions

Wedding, Iselin Marie, Koht, Jeanette, Tran, Gia Tuong, Misceo, Doriana, Selmer, Kaja Kristine, Holmgren, Asbjørn, Frengen, Eirik, Bindoff, Laurence, Tallaksen, Chantal M. E., Tzoulis, Charalampos, Sp

Journal:

PLoS ONE

Année:

2014

Langue:

english

Fichier:

PDF, 1.12 MB

english, 2014

Understanding the Epilepsy in POLG Related Disease

Hikmat, Omar, Eichele, Tom, Tzoulis, Charalampos, Bindoff, Laurence

Journal:

International Journal of Molecular Sciences

Année:

2017

Langue:

english

Fichier:

PDF, 1.15 MB

english, 2017

Dopaminergic and Opioid Pathways Associated with Impulse Control Disorders in Parkinson’s Disease

Erga, Aleksander H., Dalen, Ingvild, Ushakova, Anastasia, Chung, Janete, Tzoulis, Charalampos, Tysnes, Ole Bjørn, Alves, Guido, Pedersen, Kenn Freddy, Maple-Grødem, Jodi

Journal:

Frontiers in Neurology

Année:

2018

Langue:

english

Fichier:

PDF, 847 KB

english, 2018

Mitochondrial DNA depletion in sporadic inclusion body myositis

Bhatt, Padmanabh S., Tzoulis, Charalampos, Balafkan, Novin, Miletic, Hrvoje, Tran, Gia Tuong Thi, Sanaker, Petter Schandl, Bindoff, Laurence A.

Journal:

Neuromuscular Disorders

Année:

2019

Langue:

english

Fichier:

PDF, 755 KB

english, 2019

Common gene expression signatures in Parkinsonâs disease are driven by changes in cell composition

Nido, Gonzalo S., Dick, Fiona, Toker, Lilah, Petersen, Kjell, Alves, Guido, Tysnes, Ole-BjÃ¸rn, Jonassen, Inge, Haugarvoll, Kristoffer, Tzoulis, Charalampos

Journal:

Acta Neuropathologica Communications

Année:

2020

Fichier:

PDF, 1.21 MB

2020

Using urine to diagnose largeâscale mtDNA deletions in adult patients

Varhaug, Kristin N., Nido, Gonzalo S., Coo, Irenaeus, Isohanni, Pirjo, Suomalainen, Anu, Tzoulis, Charalampos, Knappskog, Per, Bindoff, Laurence A.

Journal:

Annals of Clinical and Translational Neurology

Année:

2020

Fichier:

PDF, 445 KB

2020

Meta-analysis of whole-exome sequencing data from two independent cohorts finds no evidence for rare variant enrichment in Parkinson disease associated loci

Gaare, Johannes Jernqvist, Nido, Gonzalo, DÃ¶lle, Christian, Sztromwasser, PaweÅ, Alves, Guido, Tysnes, Ole-BjÃ¸rn, Haugarvoll, Kristoffer, Tzoulis, Charalampos, Novelli, Giuseppe

Journal:

PLoS ONE

Année:

2020

Fichier:

PDF, 449 KB

2020