Charalampos Tzoulis
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Greek neurodegeneration researcher
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Why Is Charalampos Tzoulis Influential?
(Suggest an Edit or Addition)According to Wikipedia, Charalampos Tzoulis is a Professor of Neurology and Neurogenetics. He is a trained neurologist and co-director of the Neuro-SysMed Center for Clinical Trials Research in neurological diseases, at the University of Bergen and Haukeland University Hospital, funded amongst others by the Norwegian Research Council. In 2022, he established the K.G. Jebsen Center for Translational Research in Parkinson's Disease at the University of Bergen, with funding from the K.G. Jebsen Foundation, focusing on better diagnostics and identification of disease subtypes in order to offer personalized treatments.
Charalampos Tzoulis's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. (2006) (319)
- Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease (2016) (179)
- A multicenter study on Leigh syndrome: disease course and predictors of survival (2014) (171)
- POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. (2008) (159)
- MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing (2013) (107)
- Glitazone use associated with reduced risk of Parkinson's disease (2017) (83)
- Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations. (2013) (78)
- Neuronal complex I deficiency occurs throughout the Parkinson’s disease brain, but is not associated with neurodegeneration or mitochondrial DNA damage (2018) (75)
- Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. (2010) (71)
- Molecular Pathogenesis of Polymerase Gamma–Related Neurodegeneration (2014) (68)
- Practical guidance for CD management involving treatment of botulinum toxin: a consensus statement (2015) (54)
- Serial Diffusion Imaging in a Case of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (2009) (50)
- The angiogenic switch leads to a metabolic shift in human glioblastoma (2016) (50)
- Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions (2014) (50)
- Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients (2017) (49)
- The NADPARK study: A randomized phase I trial of nicotinamide riboside supplementation in Parkinson's disease. (2022) (46)
- Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease (2018) (42)
- Increased levels of cell-free mitochondrial DNA in the cerebrospinal fluid of patients with multiple sclerosis. (2017) (39)
- Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy. (2010) (39)
- The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations (2017) (37)
- Ultradeep mapping of neuronal mitochondrial deletions in Parkinson's disease (2018) (37)
- Excellent response of intramedullary Erdheim-Chester disease to vemurafenib: a case report (2015) (37)
- ADCK3 mutations with epilepsy, stroke‐like episodes and ataxia: a POLG mimic? (2016) (35)
- Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene (2012) (35)
- Mitochondrial DNA homeostasis is essential for nigrostriatal integrity. (2016) (32)
- Beta‐propeller protein‐associated neurodegeneration: a case report and review of the literature (2018) (31)
- Understanding the Epilepsy in POLG Related Disease (2017) (30)
- Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects. (2012) (28)
- Common gene expression signatures in Parkinson’s disease are driven by changes in cell composition (2019) (28)
- Dopaminergic and Opioid Pathways Associated with Impulse Control Disorders in Parkinson’s Disease (2018) (26)
- Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population. (2012) (25)
- MELAS ASSOCIATED WITH MUTATIONS IN THE POLG1 GENE (2008) (25)
- In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins (2017) (25)
- Association of glucocerebrosidase polymorphisms and mutations with dementia in incident Parkinson's disease (2018) (25)
- Disease‐specific phenotypes in iPSC‐derived neural stem cells with POLG mutations (2020) (23)
- Targeting NAD+ in translational research to relieve diseases and conditions of metabolic stress and ageing (2020) (23)
- Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene (2008) (21)
- Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations (2009) (20)
- PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema (2016) (19)
- Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy (2016) (18)
- Progressive striatal necrosis associated with anti-NMDA receptor antibodies (2013) (18)
- Genome-wide histone acetylation analysis reveals altered transcriptional regulation in the Parkinson’s disease brain (2021) (18)
- Novel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (2013) (18)
- Base excision repair causes age-dependent accumulation of single-stranded DNA breaks that contribute to Parkinson disease pathology (2021) (15)
- GBA and APOE Impact Cognitive Decline in Parkinson’s Disease: A 10-Year Population-Based Study (2022) (14)
- HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia (2015) (14)
- Simvastatin is associated with decreased risk of Parkinson disease (2017) (13)
- LIVE@Home.Path—innovating the clinical pathway for home-dwelling people with dementia and their caregivers: study protocol for a mixed-method, stepped-wedge, randomized controlled trial (2020) (12)
- Mitochondrial respiratory chain deficiency correlates with the severity of neuropathology in sporadic Creutzfeldt-Jakob disease (2020) (12)
- Alzheimer disease associated variants in SORL1 accelerate dementia development in Parkinson disease (2018) (11)
- Differential transcript usage in the Parkinson’s disease brain (2020) (11)
- Erdheim–Chester disease presenting with an intramedullary spinal cord lesion (2012) (11)
- Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy (2009) (10)
- Using urine to diagnose large‐scale mtDNA deletions in adult patients (2020) (10)
- Familial aggregation of Parkinson's disease may affect progression of motor symptoms and dementia (2017) (10)
- 3,3′-Diaminobenzidine staining interferes with PCR-based DNA analysis (2018) (10)
- Subcellular Parkinson’s Disease-Specific Alpha-Synuclein Species Show Altered Behavior in Neurodegeneration (2017) (8)
- No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy. (2017) (8)
- Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation (2014) (7)
- Meta-analysis of whole-exome sequencing data from two independent cohorts finds no evidence for rare variant enrichment in Parkinson disease associated loci (2020) (7)
- A nationwide study of the incidence, prevalence and mortality of Parkinson’s disease in the Norwegian population (2022) (7)
- Management of dystonia in Europe: a survey of the European network for the study of the dystonia syndromes (2016) (7)
- Mitochondrial DNA depletion in sporadic inclusion body myositis (2019) (7)
- Genome-wide dysregulation of histone acetylation in the Parkinson’s disease brain (2019) (6)
- Poly-ADP-ribose assisted protein localization resolves that DJ-1, but not LRRK2 or α-synuclein, is localized to the mitochondrial matrix (2019) (6)
- Mitochondrial Respiratory Chain Dysfunction—A Hallmark Pathology of Idiopathic Parkinson’s Disease? (2022) (5)
- Stem cell derived astrocytes with POLG mutations and mitochondrial dysfunction including abnormal NAD+ metabolism is toxic for neurons (2020) (5)
- Movement disorders in mitochondrial disease: a clinicopathological correlation (2018) (5)
- A man in his 50s with high ferritin levels and increasing cognitive impairment. (2015) (4)
- No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson’s disease (2018) (4)
- [A 90-year-old woman with acute hemiparesis]. (2006) (3)
- Ultra-deep whole genome bisulfite sequencing reveals a single methylation hotspot in human brain mitochondrial DNA (2021) (3)
- Two independent respiratory chains adapt OXPHOS performance to glycolytic switch. (2022) (3)
- The Syndrome of Mitochondrial Spinocerebellar Ataxia and Epilepsy caused by POLG mutations (2009) (3)
- Digital phenotyping by wearable-driven artificial intelligence in older adults and people with Parkinson’s disease: Protocol of the mixed method, cyclic ActiveAgeing study (2022) (3)
- NSAID use is not associated with Parkinson’s disease incidence: A Norwegian Prescription Database study (2021) (3)
- Dysregulation of histone acetylation and decoupling from transcription in Parkinson’s disease (2019) (3)
- Nigrostriatal denervation sine parkinsonism. (2016) (3)
- The impact of common genetic variants in cognitive decline in the first seven years of Parkinson’s disease: A longitudinal observational study (2021) (3)
- Early Forms of α-Synuclein Pathology Are Associated with Neuronal Complex I Deficiency in the Substantia Nigra of Individuals with Parkinson’s Disease (2022) (2)
- The ANeED study: Ambroxol in new and early dementia with Lewy bodies (2020) (2)
- Distinct Mitochondrial Remodeling During Mesoderm Differentiation in a Human-Based Stem Cell Model (2021) (2)
- No evidence of extensive non-CpG methylation in mtDNA (2022) (2)
- Genome-wide histone acetylation analysis reveals altered transcriptional regulation in the Parkinson’s disease brain (2021) (2)
- Altered transcriptome-proteome coupling indicates aberrant proteostasis in Parkinson’s disease (2021) (2)
- Real-World Dosing of OnabotulinumtoxinA and IncobotulinumtoxinA for Cervical Dystonia and Blepharospasm: Results from TRUDOSE and TRUDOSE II (2021) (2)
- Molecular Genetics of DNA Polymerase Gamma‐associated Neurodegeneration (2016) (1)
- Association of GBA polymorphisms and mutations with dementia in incident Parkinson disease (2018) (1)
- En 90 år gammel kvinne med akutt hemiparese (2006) (1)
- [Multiple sclerosis - a mitochondria-mediated disease?] (2017) (1)
- Distinct mitochondrial remodeling during early cardiomyocyte development in a human-based stem cell model (2021) (0)
- Nicotinamide riboside supplementation is not associated with altered methylation homeostasis in Parkinson’s disease (2023) (0)
- Mitochondrial respiratory chain deficiency correlates with the severity of neuropathology in sporadic Creutzfeldt-Jakob disease (2020) (0)
- Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish (2021) (0)
- Subcellular Parkinson’s Disease-Specific Alpha-Synuclein Species Show Altered Behavior in Neurodegeneration (2016) (0)
- G.P.11.01 RNA processing differences explain tissue specificity in exercise intolerance myopathy due to ISCU intronic mutation (2009) (0)
- Excellent response of intramedullary Erdheim-Chester disease to vemurafenib: a case report (2015) (0)
- Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease (2017) (0)
- Severe nigrostriatal degeneration without clinical parkinsonism in patients with POLG mutations (2013) (0)
- Common gene expression signatures in Parkinson’s disease are driven by changes in cell composition (2020) (0)
- O20 – 1660 Leigh syndrome: a multicenter study of natural history (2013) (0)
- Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations (2018) (0)
- PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema (2016) (0)
- The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations (2017) (0)
- Clinical and molecular studies of disease caused by mutations of the mitochondrial DNA polymerase gamma (POLG). (2010) (0)
- A nationwide study of the incidence, prevalence and mortality of Parkinson’s disease in the Norwegian population (2022) (0)
- Two respiratory chain organizations with distinct bioenergetic properties coexist in human mitochondria (2022) (0)
- The Retrospective Evaluation of the Dose of IncobotulinumtoxinA and OnabotulinumtoxinA for the Clinical Management of Cervical Dystonia and Blepharospasm: TRUDOSE Pilot Study (P7.065) (2014) (0)
- 3,3′-Diaminobenzidine staining interferes with PCR-based DNA analysis (2018) (0)
- A woman in her 70s with chronic walking difficulties. (2015) (0)
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