41 results on '"Zekanowski, Cezary"'
Search Results
2. Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome
3. A Patient with Corticobasal Syndrome and Progressive Non-Fluent Aphasia (CBS-PNFA), with Variants in ATP7B, SETX, SORL1, and FOXP1 Genes
4. Two Rare Variants in PLAU and BACE1 Genes—Do They Contribute to Semantic Dementia Clinical Phenotype?
5. Polygenic risk scores based on European GWAS correlate to disease prevalence differences around the world
6. Parkin Levels Decrease in Fibroblasts With Progranulin (PGRN) Pathogenic Variants and in a Cellular Model of PGRN Deficiency
7. Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients
8. A farnesyltransferase inhibitor activates lysosomes and reduces tau pathology in mice with tauopathy
9. Association of serotoninergic pathway gene variants with elite athletic status in the Polish population
10. Farnesyl Transferase Inhibition for the Treatment of Tauopathies
11. Functional characterization of a novel progranulin mutation in a patient with progressive nonfluent aphasia
12. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis
13. Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients
14. TREM2 variants in neurodegenerative disorders in the Polish population. Homozygosity and compound heterozygosity in FTD patients
15. Overactive BRCA1 Affects Presenilin 1 in Induced Pluripotent Stem Cell-Derived Neurons in Alzheimer’s Disease
16. A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure
17. Sporadic inclusion body myositis: clinical, pathological, and genetic analysis of eight Polish patients
18. Two Desmin Gene Mutations Associated with Myofibrillar Myopathies in Polish Families
19. The Impact of Mitochondrial DNA and Nuclear Genes Related to Mitochondrial Functioning on the Risk of Parkinson’s Disease
20. TOMM40 and APOE common genetic variants are not Parkinson's disease risk factors
21. Integrated pathways of parkin control over mitochondrial maintenance – relevance to Parkinson’s disease pathogenesis
22. A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy
23. Association between plasma biomarkers, CDK5 polymorphism and the risk of Alzheimer’s disease
24. Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301LMAPTmutation: dysexecutive, aphasic, apraxic or spatial phenomenon?
25. PARK2 variability in Polish Parkinson’s disease patients - interaction with mitochondrial haplogroups
26. P1-285: Sigma non-opioid intracellular receptor 1 and neurodegeneration: prevalence of mutations and therapeutic implications
27. Intra-Familial Clinical Heterogeneity due to FTLD-U with TDP-43 Proteinopathy Caused by a Novel Deletion in Progranulin Gene (PGRN)
28. Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease
29. IC-P-094: Neuropsychiatric and Neuropsychological Features of Frontotemporal Dementia Caused by Novel Deletion in Progranulin Gene (PGRN)
30. Mitochondrial transcription factor A variants and the risk of Parkinson's disease
31. Aneuploidy, chromosomal missegregation, and cell cycle reentry in Alzheimer's disease
32. Mitochondrial DNA haplogroups and subhaplogroups are associated with Parkinson’s disease risk in a Polish PD cohort
33. P3-274: Major genetic risk factors for age-related macular degeneration are not associated with Alzheimer's disease
34. Association study of cholesterol-related genes in Alzheimer’s disease
35. Linear patterns of Alzheimer's disease mutations along α-helices of presenilins as a tool for PS-1 model construction
36. P4-133 The E318G substitution in PSEN1 gene is not connected with Alzheimer's disease in Poland
37. P4-145 No association between PSEN1 −22C/T promoter polymorphism and Alzheimer's disease in a group of polish patients
38. Genetic aspects of Alzheimer's disease
39. Genetic diversity within the R408W phenylketonuria mutation lineages in Europe
40. Mutations in Exon 3 of the PAH Gene Causing Mild Hyperphenylalaninemia
41. Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene
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