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Genetics of Parkinson's Disease: Genotype-Phenotype Correlations.
TLDR
This review places an emphasis on Mendelian forms, and in particular genetic defects which present predominantly with Parkinsonism, and provides details into the particular phenotypes associated with each genetic defect, with a particular emphasis on nonmotor symptoms. Expand
Alpha-synuclein dimerization in erythrocytes of patients with genetic and non-genetic forms of Parkinson’s Disease
TLDR
The increased α-synuclein dimer in GBA-PD and GU-PD is suggestive of an apparent systemic dysfunction causing the dimerization, and potentially oligomerization, of α- synuclein. Expand
Frontotemporal dementia as the presenting phenotype of p.A53T mutation carriers in the alpha-synuclein gene.
TLDR
Two apparently unrelated cases of p.A53T (G209A) SNCA mutation carriers with an atypical initial manifestation and disease course are described, indicating a subtype of this disorder, with distinctive clinical, imaging and CSF biochemical characteristics, in which additional genetic or epigenetic factors may play a role. Expand
Motor and Nonmotor Features of Carriers of the p.A53T Alpha‐Synuclein Mutation: A Longitudinal Study
TLDR
G209A SNCA mutation carriers represent an important group of genetic PD carriers and motor and nonmotor features of these carriers are described. Expand
Serotonergic pathology and disease burden in the premotor and motor phase of A53T α-synuclein parkinsonism: a cross-sectional study
TLDR
This cross-sectional study recruited carriers of the A53T SNCA mutation from specialist Movement Disorders clinics in Athens, Greece, and Salerno, Italy, and a cohort of healthy controls with no personal or family history of neurological or psychiatric disorders from London, UK to assess whether pathology is associated with measures of Parkinson's disease burden. Expand
Phenotypic Characteristics in GBA-Associated Parkinson's Disease: A Study in a Greek Population.
We compared phenotypic characteristics in 35 Greek patients with Parkinson's disease (PD), carriers of GBA1 mutations (GBA-PD), with 35 Genetically Unidentified PD patients (GU-PD). We found aExpand
Circulating Brain‐Enriched MicroRNAs for Detection and Discrimination of Idiopathic and Genetic Parkinson's Disease
TLDR
It is now known that the differential expression of neuron‐enriched miRNAs leads to brain dysfunction. Expand
Selective cognitive impairment and hyposmia in p.A53T SNCA PD vs typical PD
TLDR
The observed selective cognitive impairment reflecting frontal-parietal network dysfunction, together with impaired olfaction, define a set of nonmotor dysfunctions related to A53T PD that have implications for the prognosis of patients with A 53T PD. Expand
Impact of dabigatran on platelet function and fibrinolysis
TLDR
The findings indicate that DE might affect platelet function and fibrinolysis and highlight the potential role of ETP as an alternative option in DE monitoring. Expand
The relationship between environmental factors and different Parkinson's disease subtypes in Greece: Data analysis of the Hellenic Biobank of Parkinson's disease.
TLDR
It is shown that the well-known negative association of smoking with PD occurs across all PD subtypes in the Greek population, apart from early-onset PD, highlighting a potential distinct underlying physiopathology in this PD subset that may involve specific gene-environment interactions. Expand
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