Affiliation: Medical University of Silesia
- Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patientsD Koziorowski
Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Neurol Neurochir Pol 47:319-24. 2013..The aim of the study was to analyze the incidence of autosomal recessive genes PARK2, PINK1, PARK7 mutations in Polish EO-PD patients...
- Low frequency of the PARK2 gene mutations in Polish patients with the early-onset form of Parkinson diseaseDariusz Koziorowski
Department of Neurology, Faculty of Heath Science, Medical University of Warsaw, Kondratowicza 8, 03 242 Warsaw, Poland
Parkinsonism Relat Disord 16:136-8. 2010..Although the frequency of the PARK2 mutations in EO-PD patients according to several studies is high and has been reported in up to 50% in familial and 19% in sporadic cases, these data remain controversial...
- [Familial occurrence of FXTAS caused by premutation in the FMR1 gene]Dariusz Koziorowski
Dariusz Koziorowski, Klinika Neurologii WNoZ, Warszawski Uniwersytet Medyczny, Warszawa
Neurol Neurochir Pol 45:391-8. 2011..Her daughter, with mild intellectual disability, was a carrier of a full mutation. Thus, in the presented family with heterogeneous clinical presentation we found 4 premutations and one full mutation in the FMR1 gene...
- Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's diseaseDorota Hoffman-Zacharska
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Poland
Parkinsonism Relat Disord 19:1057-60. 2013..Mutations in the α-synuclein-encoding gene SNCA are considered as a rare cause of Parkinson's disease (PD). Our objective was to examine the frequency of the SNCA point mutations among PD patients of Polish origin...
- Iron as a cause of Parkinson disease - a myth or a well established hypothesis?Andrzej Friedman
Department of Neurology, Medical University in Warsaw, Poland
Parkinsonism Relat Disord 15:S212-4. 2009..This finding corresponds well to a decrease of L-ferritin concentration in parkinsonian SN and also to a difference of the size of iron core of ferritin between PD and control SN. The significance of these finding will be discussed...
- Inflammatory cytokines and NT-proCNP in Parkinson's disease patientsDariusz Koziorowski
Department of Neurology, Faculty of Health Science, Medical University of Warsaw, Poland
Cytokine 60:762-6. 2012....
- Levodopa "drug holiday" with amantadine infusions as a treatment of complications in Parkinson's diseaseDariusz Koziorowski
Department of Neurology, The Medical University of Warsaw, Warsaw, Poland
Mov Disord 22:1033-6. 2007..The improvement after therapy was maintained up to 4 month. The levodopa "drug holidays" with amantadine infusion is a valuable option in the therapy of advanced stages of PD...
- ELISA reveals a difference in the structure of substantia nigra ferritin in Parkinson's disease and incidental Lewy body compared to controlDariusz Koziorowski
Department of Neurology, The Medical University in Warsaw, ul Kondratowicza 8, 03 242 Warsaw, Poland
Parkinsonism Relat Disord 13:214-8. 2007..9+/-87.7) and control (374.8+/-169.3). The decrease of L ferritin in SN in PD and ILB may suggest that the whole process of neurodegeneration starts with a higher availability of free iron, which is released from the ferritin shell...