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List of works by Charalampos Tzoulis

A 90-year-old woman with acute hemiparesis

scientific article (publication date: 10 August 2006)

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

scientific article

ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

scientific article published on 23 April 2016

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

scientific article published on October 12, 2012

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

scientific article published on 4 January 2018

Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease

scientific article

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

scientific article

Differential transcript usage in the Parkinson's disease brain

scientific article published on 02 November 2020

En kvinne i 70-årene med langvarige gangvansker

scientific article published on 20 October 2015

Erdheim-Chester disease presenting with an intramedullary spinal cord lesion

scientific article published on 26 May 2012

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

scientific article published on 30 April 2015

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

scientific article published on 10 November 2016

Genome-wide histone acetylation analysis reveals altered transcriptional regulation in the Parkinson's disease brain

scientific article published on 05 May 2021

Glitazone use associated with reduced risk of Parkinson's disease

scientific article published in September 2017

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

scientific article published on 30 March 2015

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

article

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

scientific article published on 22 December 2016

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

scientific article

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

scientific article published on 16 April 2010

MELAS ASSOCIATED WITH MUTATIONS IN THE POLG1 GENE

article

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

scientific article published on 3 January 2013

Management of dystonia in Europe: a survey of the European network for the study of the dystonia syndromes.

scientific article published on 29 January 2016

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

scientific article published on 01 October 2020

Migrainous cerebral infarction in a previously healthy 93-year-old female patient with no risk factors for stroke

scientific article published in July 2006

Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations

scientific article

Mitochondrial DNA depletion in sporadic inclusion body myositis

scientific article published on 10 February 2019

Mitochondrial DNA homeostasis is essential for nigrostriatal integrity

scientific article published on 12 March 2016

Molecular pathogenesis of polymerase γ-related neurodegeneration

scientific article published on 14 June 2014

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

scientific article published on 3 December 2013

Neuronal complex I deficiency occurs throughout the Parkinson's disease brain, but is not associated with neurodegeneration or mitochondrial DNA damage

scientific article

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

scientific article published on 28 January 2009

Nigrostriatal denervation sine parkinsonism

scientific article published on 25 January 2016

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

scientific article published on 9 November 2016

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

scientific article (publication date: 2013)

Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy

scientific article

Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population

scientific article published on 29 August 2012

PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema.

scientific article published on 10 May 2016

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection

scientific article

Practical guidance for CD management involving treatment of botulinum toxin: a consensus statement

scientific article

Progressive striatal necrosis associated with anti-NMDA receptor antibodies

scientific article

Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease.

scientific article published on 5 September 2018

Serial Diffusion Imaging in a Case of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

scientific article published on 18 December 2008

Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations

scientific article published on 26 April 2013

Simvastatin is associated with decreased risk of Parkinson disease

scientific article published on 26 December 2016

Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions

scientific article (publication date: 2014)

Subcellular Parkinson's Disease-Specific Alpha-Synuclein Species Show Altered Behavior in Neurodegeneration.

scientific article published on 11 November 2016

The angiogenic switch leads to a metabolic shift in human glioblastoma

scientific article published on 3 September 2016

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

scientific article published on 25 April 2006

Ultradeep mapping of neuronal mitochondrial deletions in Parkinson's disease

scientific article published on 8 December 2017

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