A5064697244- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- Neuroscience and Neuropharmacology Research
- Trace Elements in Health
- Genetics and Neurodevelopmental Disorders
- Neurological diseases and metabolism
- Vagus Nerve Stimulation Research
- Electrochemical Analysis and Applications
- Nuclear Receptors and Signaling
- Genetic Neurodegenerative Diseases
- Genomics and Rare Diseases
- Biochemical Analysis and Sensing Techniques
- Autoimmune Neurological Disorders and Treatments
- Diet and metabolism studies
- Glycogen Storage Diseases and Myoclonus
- Nicotinic Acetylcholine Receptors Study
- Peroxisome Proliferator-Activated Receptors
- Microbial Inactivation Methods
- Cerebral Palsy and Movement Disorders
- Nuclear Structure and Function
- Balance, Gait, and Falls Prevention
- Inflammation biomarkers and pathways
- Bee Products Chemical Analysis
- Hereditary Neurological Disorders
- Adenosine and Purinergic Signaling
Jagiellonian University
2006-2020
Mayo Clinic in Florida
2003-2015
Baylor College of Medicine
2009
University of California, San Francisco
2009
Jacksonville College
2003
WinnMed
2003
Collegium Medicum in Bydgoszcz
1997
Abstract Background A rare variant in the Triggering Receptor Expressed on Myeloid cells 2 ( TREM2 ) gene has been reported to be a genetic risk factor for Alzheimer’s disease by two independent groups (Odds ratio between 2.9-4.5). Given key role of effective phagocytosis apoptotic neuronal microglia, we hypothesized that dysfunction may play more generalized neurodegeneration. With this mind set out assess association disease-related (rs75932628, p.R47H) with other related neurodegenerative...
<h3>Objective:</h3> To assess the role of <i>CHCHD2</i> variants in patients with Parkinson disease (PD) and Lewy body (LBD) Caucasian populations. <h3>Methods:</h3> All exons gene were sequenced a US patient-control series (878 PD, 610 LBD, 717 controls). Subsequently, 1 2 an Irish (355 PD 365 controls) Polish (394 350 Immunohistochemistry immunofluorescence studies performed on pathologic LBD cases rare variants. <h3>Results:</h3> We identified 9 exonic unknown significance. These more...
Recently, mutations in DCTN1 were found to cause Perry syndrome, a parkinsonian disorder with TDP-43-positive pathology. Previously, identified family lower motor neuron disease, amyotrophic lateral sclerosis (ALS), and ALS/frontotemporal dementia (FTD), suggesting central role for neurodegeneration.In this study we sequenced all exons exon-intron boundaries 286 samples diagnosed Parkinson disease (PD), frontotemporal lobar degeneration (FTLD), or ALS.This analysis revealed 36 novel variants...
Background Recently, a novel mutation in exon 24 of DNAJC 13 gene (p.Asn855Ser, rs387907571) has been reported to cause autosomal dominant Parkinson's disease ( PD ) multi‐incident Mennonite family. Methods In the present study containing sequenced Caucasian series consisting 1938 patients with clinical and 838 pathologically diagnosed Lewy body LBD ). Results Our sequence analysis did not identify any coding variants . Two previously described intron 23 (rs200204728 rs2369796) were...
Recent immunohistochemical studies point to the dorsal motor nucleus of vagus nerve as departure initial changes which are related gradual pathological developments in dopaminergic system. In light current investigations, it is likely that biochemical within peripheral nervous system may influence physiology system, suggesting a putative role for development neurodegenerative disorders. By using Fourier transform infrared microspectroscopy, coupled with statistical analysis, we examined...
Synchrotron radiation based x-ray fluorescence (SRXRF) was applied to the quantitative evaluation of elemental changes in substantia nigra pars compacta (SNc) Parkinson's disease (PD) framework a study on role chemical elements pathophysiology PD. The analysis carried out for dopaminergic nerve cells and extraneuronal spaces. mass fractions P, S, Cl, K, Ca, Fe, Cu, Zn, Br Rb were determined. application standard samples developed especially determination thin tissue sections using SRXRF...
Abstract Three techniques based on synchrotron radiation microbeam analysis were applied to biochemical investigations of human central nervous system (CNS) tissue. Thin tissue slices representing Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS) and control cases studied. Synchrotron x‐ray fluorescence (micro‐SRXRF) was the elemental distribution inside single nerve cells. Investigation copper oxidation state performed with use micro absorption near‐edge structure spectroscopy...
It has been reported that the prevalance of parkinsonism might be associated with exposure to whooping cough.Examination levels antibodies against Bordetella pertussis in serum using enzyme-linked immunosorbent assay (ELISA) tests [presence IgG filamentous hemagglutinin and toxin (PT)] were performed 81 persons (including 45 patients controls) (age-matched groups).Positive results found Parkinson's disease (PD), other non-inflammatory diseases, controls (about 40-45% each group). A detailed...