A5005230238- Muscle Physiology and Disorders
- Glycosylation and Glycoproteins Research
- Cellular transport and secretion
- Lysosomal Storage Disorders Research
- Neurogenetic and Muscular Disorders Research
- RNA Research and Splicing
- Spectroscopy Techniques in Biomedical and Chemical Research
- Digital Holography and Microscopy
- Tissue Engineering and Regenerative Medicine
- Molecular Biology Techniques and Applications
- Cancer Research and Treatments
- Nuclear Structure and Function
- Genetics and Neurodevelopmental Disorders
- Sphingolipid Metabolism and Signaling
- Microtubule and mitosis dynamics
- Glycogen Storage Diseases and Myoclonus
- Circular RNAs in diseases
- Optical Coherence Tomography Applications
- Cancer Cells and Metastasis
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genetic Neurodegenerative Diseases
University of Warsaw
2023
Institute of Psychiatry and Neurology
2017-2022
Wojskowy Instytut Medycyny Lotniczej
2018
Central Forensic Laboratory of the Police
2006
Gaucher disease (GD) is a rare inherited metabolic caused by pathogenic variants in the GBA1 gene. So far, pathomechanism of GD was investigated mainly animal models. In order to delineate molecular changes cells we analysed gene expression profile cultured skin fibroblasts from patients, control individuals and, additionally, patients with Niemann-Pick type C (NPC). We used microarrays subsequent validation qRT-PCR method. comparison vs. controls, most pronounced relative fold change (rFC)...
In the material of 227 families with Becker muscular dystrophy (BMD), we found nine non-consanguineous 17 male individuals carrying a rare mutation-a single exon 48 deletion dystrophin gene-who were affected very mild or subclinical form BMD. They usually detected thanks to accidental findings elevated serum creatine phosphokinase (sCPK). A thorough clinical analysis carriers, both children (12) and adults (5), revealed in some them muscle hypotonia (10/17) and/or weakness (9/17), as well...
We present a stimulated Raman scattering (SRS) microscope integrated with novel fiber-based light source. Our source provides two synchronized pulse trains 100 mW average power each, independently tunable in the range of 913 to 930 nm and 1024 1034 nm, respectively, thus enabling SRS measurements across 990 1300 cm<sup>-1</sup> spectral resolution 15 cm<sup>-1</sup>. demonstrate imaging leukemic cells recorded few seconds. system may find potential application biomedicine, particular,...
We report on a 36-year-old man with cerebellar-extrapyramidal syndrome and severe heart failure because of dilated cardiomyopathy unknown origin. Dysarthria cardiac arrhythmia began at early childhood (4 years age). Brain MRI (28 age) demonstrated cerebellar atrophy. At the age 32, he presented dysarthria, ataxia, dystonia, tremor right hand, bilateral slowed neural conduction in visual pathways, decreased mental acuity. 33 years, patient underwent transplantation cardiomyopathy. In TPP1...
Ceroid lipofuscinosis type 3 (CLN3) is an autosomal recessive, neurodegenerative metabolic disease. Typical clinical symptoms include progressive visual loss, epilepsy of unknown etiology and dementia. Presence lipofuscin deposits with typical pattern 'fingerprints' vacuolized lymphocytes suggest the diagnosis CLN3. Cause CLN3 are mutations in gene, among which most frequently found large deletion 1.02 kb spreading on exons 7 8. We present 4 patients from 2 families, whom deterioration...