Publications by authors named "Charalampos Tzoulis"

65Publications

Differential transcript usage in the Parkinson's disease brain.

PLoS Genet 2020 Nov 2;16(11):e1009182. Epub 2020 Nov 2.

Neuro-SysMed, Department of Neurology, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.1371/journal.pgen.1009182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7660910PMC
November 2020

Using urine to diagnose large-scale mtDNA deletions in adult patients.

Ann Clin Transl Neurol 2020 Jul 7. Epub 2020 Jul 7.

Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.

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http://dx.doi.org/10.1002/acn3.51119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7448145PMC
July 2020

Common gene expression signatures in Parkinson's disease are driven by changes in cell composition.

Acta Neuropathol Commun 2020 04 21;8(1):55. Epub 2020 Apr 21.

Neuro-SysMed Center of Excellence for Clinical Research in Neurological Diseases, Department of Neurology, Haukeland University Hospital, 5021, Bergen, Norway.

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http://dx.doi.org/10.1186/s40478-020-00932-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7175586PMC
April 2020

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

Mech Ageing Dev 2020 03 15;186:111208. Epub 2020 Jan 15.

Department of Clinical Molecular Biology, University of Oslo and Akershus University Hospital, 1478 Lørenskog, Norway; The Norwegian Centre on Healthy Ageing (NO-Age), Oslo, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.mad.2020.111208DOI Listing
March 2020

Mitochondrial DNA depletion in sporadic inclusion body myositis.

Neuromuscul Disord 2019 03 10;29(3):242-246. Epub 2019 Feb 10.

Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway; Department of Clinical Medicine (K1), University of Bergen, Pb 7804, 5020, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.02.001DOI Listing
March 2019

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

Alzheimers Dement 2018 10 21;14(10):1293-1301. Epub 2018 May 21.

The Norwegian Centre for Movement Disorders, Stavanger University Hospital, Stavanger, Norway; Centre for Organelle Research, University of Stavanger, Stavanger, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.jalz.2018.04.006DOI Listing
October 2018

Movement disorders in mitochondrial disease: a clinicopathological correlation.

Curr Opin Neurol 2018 08;31(4):472-483

Department of Clinical Medicine, University of Bergen.

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http://dx.doi.org/10.1097/WCO.0000000000000583DOI Listing
August 2018

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

Neurosci Lett 2018 05 19;674:123-126. Epub 2018 Mar 19.

The Norwegian Centre for Movement Disorders, Stavanger University Hospital, Stavanger, Norway; Department of Neurology, Stavanger University Hospital, Stavanger, Norway; Department of Mathematics and Natural Sciences, University of Stavanger, Stavanger, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.neulet.2018.03.036DOI Listing
May 2018

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

Clin Case Rep 2018 02 4;6(2):353-362. Epub 2018 Jan 4.

Department of Neurology Haukeland University Hospital Bergen Norway.

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http://dx.doi.org/10.1002/ccr3.1358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799652PMC
February 2018

3,3'-Diaminobenzidine staining interferes with PCR-based DNA analysis.

Sci Rep 2018 01 19;8(1):1272. Epub 2018 Jan 19.

Department of Neurology, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.1038/s41598-018-19745-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5775208PMC
January 2018

Ultradeep mapping of neuronal mitochondrial deletions in Parkinson's disease.

Neurobiol Aging 2018 03 8;63:120-127. Epub 2017 Dec 8.

Department of Neurology, Haukeland University Hospital, Bergen, Norway; Department of Clinical Medicine, University of Bergen, Bergen, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.10.024DOI Listing
March 2018

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

J Med Genet 2018 01 3;55(1):21-27. Epub 2017 Nov 3.

Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1136/jmedgenet-2017-104891DOI Listing
January 2018

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

J Inherit Metab Dis 2017 11 1;40(6):861-866. Epub 2017 Sep 1.

Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.

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http://dx.doi.org/10.1007/s10545-017-0084-9DOI Listing
November 2017

Glitazone use associated with reduced risk of Parkinson's disease.

Mov Disord 2017 Nov 1;32(11):1594-1599. Epub 2017 Sep 1.

Department of Neurology, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.1002/mds.27128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5697685PMC
November 2017

Understanding the Epilepsy in POLG Related Disease.

Int J Mol Sci 2017 Aug 24;18(9). Epub 2017 Aug 24.

Department of Clinical Medicine (K1), University of Bergen, 5020 Bergen, Norway.

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http://dx.doi.org/10.3390/ijms18091845DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5618494PMC
August 2017

[Multiple sclerosis - a mitochondria-mediated disease?]

Tidsskr Nor Laegeforen 2017 Feb 21;137(4):284-287. Epub 2017 Feb 21.

Klinisk institutt 1 Universitetet i Bergen og Nevrologisk avdeling Haukeland universitetssykehus.

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http://dx.doi.org/10.4045/tidsskr.16.0210DOI Listing
February 2017

Simvastatin is associated with decreased risk of Parkinson disease.

Ann Neurol 2017 02;81(2):329-330

Department of Neurology, Haukeland University Hospital.

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http://dx.doi.org/10.1002/ana.24857DOI Listing
February 2017

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

Mitochondrion 2017 05 23;34:32-35. Epub 2016 Dec 23.

Department of Neurology, Haukeland University Hospital, Bergen, Norway; Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2016.12.003DOI Listing
May 2017

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

Mov Disord 2017 02 10;32(2):241-245. Epub 2016 Nov 10.

Department of Neurology, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.1002/mds.26856DOI Listing
February 2017

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

Mitochondrion 2017 Jan 10;32:10-15. Epub 2016 Nov 10.

Department of Neurology, Haukeland University Hospital, Bergen, Norway; Department of Clinical Medicine, University of Bergen, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2016.11.004DOI Listing
January 2017

Mitochondrial DNA homeostasis is essential for nigrostriatal integrity.

Mitochondrion 2016 05 12;28:33-7. Epub 2016 Mar 12.

Department of Neurology, Haukeland University Hospital, Bergen, Norway; Department of Clinical Medicine, University of Bergen, Norway.

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http://dx.doi.org/10.1016/j.mito.2016.03.003DOI Listing
May 2016

Nigrostriatal denervation sine parkinsonism.

Brain 2016 Apr 25;139(Pt 4):e25. Epub 2016 Jan 25.

1 Department of Neurology, Haukeland University Hospital, Bergen, Norway 2 Department of Clinical Medicine, University of Bergen, Norway

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http://dx.doi.org/10.1093/brain/awv410DOI Listing
April 2016

A woman in her 70s with chronic walking difficulties.

Tidsskr Nor Laegeforen 2015 Oct 20;135(19):1753-5. Epub 2015 Oct 20.

Nevrologisk avdeling Haukeland universitetssykehus.

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http://dx.doi.org/10.4045/tidsskr.15.0111DOI Listing
October 2015

A man in his 50s with high ferritin levels and increasing cognitive impairment.

Tidsskr Nor Laegeforen 2015 Aug 25;135(15):1369-72. Epub 2015 Aug 25.

Nevrologisk avdeling Haukeland universitetssykehus og Klinisk institutt 1 Universitetet i Bergen.

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http://dx.doi.org/10.4045/tidsskr.14.1115DOI Listing
August 2015

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

Proc Natl Acad Sci U S A 2015 May 30;112(18):E2268. Epub 2015 Mar 30.

Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway; Department of Clinical Medicine, University of Bergen, 5021 Bergen, Norway; K. G. Jebsen Centre for Neuropsychiatric Disorders,

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http://dx.doi.org/10.1073/pnas.1503105112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4426452PMC
May 2015

Molecular pathogenesis of polymerase γ-related neurodegeneration.

Ann Neurol 2014 Jul 14;76(1):66-81. Epub 2014 Jun 14.

Department of Neurology, Haukeland University Hospital, Bergen, Norway; Department of Clinical Medicine, University of Bergen, Bergen, Norway.

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http://www.biomedsearch.com/attachments/00/24/84/11/24841123
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http://doi.wiley.com/10.1002/ana.24185
Publisher Site
http://dx.doi.org/10.1002/ana.24185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4140551PMC
July 2014

Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions.

PLoS One 2014 22;9(1):e86340. Epub 2014 Jan 22.

Department of Clinical Medicine, University of Bergen, Bergen, Norway ; Department of Neurology, Haukeland University Hospital, Bergen, Norway.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0086340PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3899233PMC
November 2014

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

J Neurol 2014 Feb 3;261(2):358-62. Epub 2013 Dec 3.

Department of Neurology, Haukeland University Hospital, Jonas Liesvei 65, 5021, Bergen, Norway,

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http://dx.doi.org/10.1007/s00415-013-7203-9DOI Listing
February 2014

Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

PLoS One 2013 13;8(6):e66145. Epub 2013 Jun 13.

Department of Neurology, Haukeland University Hospital, Bergen, Norway ; Department of Clinical Medicine, University of Bergen, Bergen, Norway.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0066145PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681964PMC
January 2014

Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects.

Brain 2012 Dec 12;135(Pt 12):3627-34. Epub 2012 Oct 12.

Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway.

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https://academic.oup.com/brain/article-lookup/doi/10.1093/br
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http://dx.doi.org/10.1093/brain/aws223DOI Listing
December 2012

Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene.

J Neurol 2012 Feb 27;259(2):292-6. Epub 2011 Jul 27.

Department of Neurology, Haukeland University Hospital, 5021, Bergen, Norway.

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http://dx.doi.org/10.1007/s00415-011-6176-9DOI Listing
February 2012

Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes.

Brain 2010 May 16;133(Pt 5):1428-37. Epub 2010 Apr 16.

Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway.

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http://dx.doi.org/10.1093/brain/awq067DOI Listing
May 2010

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

Biochim Biophys Acta 2010 Jun 4;1802(6):539-44. Epub 2010 Mar 4.

Department of Clinical Medicine, University of Bergen, Norway.

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http://dx.doi.org/10.1016/j.bbadis.2010.02.010DOI Listing
June 2010

Serial diffusion imaging in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes.

Stroke 2009 Feb 18;40(2):e15-7. Epub 2008 Dec 18.

Department of Neurology, Haukeland University Hospital, Bergen, Norway.

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https://www.ahajournals.org/doi/10.1161/STROKEAHA.108.523118
Publisher Site
http://dx.doi.org/10.1161/STROKEAHA.108.523118DOI Listing
February 2009

Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.

J Neurol 2008 Aug 23;255(8):1142-4. Epub 2008 Jun 23.

Dept. of Neurology, Haukeland University Hospital, 5021, Bergen, Norway.

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http://dx.doi.org/10.1007/s00415-008-0858-yDOI Listing
August 2008

Melas associated with mutations in the polg1 gene.

Neurology 2008 Mar;70(13):1054; author reply 1054-5

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http://dx.doi.org/10.1212/01.wnl.0000307661.98694.c3DOI Listing
March 2008

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.

Brain 2008 Mar 30;131(Pt 3):818-28. Epub 2008 Jan 30.

Institute of Clinical Medicine, University of Bergen, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.1093/brain/awn007DOI Listing
March 2008

[A 90-year-old woman with acute hemiparesis].

Tidsskr Nor Laegeforen 2006 Aug;126(15):1931-3

Nevrologisk avdeling, Haukeland Universitetssjukehus, 5021 Bergen.

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August 2006

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.

Brain 2006 Jul 25;129(Pt 7):1685-92. Epub 2006 Apr 25.

Department of Neurology, Institute of Clinical Medicine, University of Bergen and Haukeland University Hospital Bergen, Norway.

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http://dx.doi.org/10.1093/brain/awl097DOI Listing
July 2006