Mutation Analysis of the PARKIN , PINK1 , DJ1, and SNCA genes in Turkish Early-Onset Parkinson’s Patients and Genotype-Phenotype Correlations
Highlights • Our study is the first to evaluate the frequency of SNCA mutations in a Turkey. • Pathogenic heterozygous PRKN mutations were identified in 3 of the 50 patients. • We did not detect any pathogenic DJ1 and PINK I mutations in our study cohort.
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| Veröffentlicht in: | Clinical neurology and neurosurgery 2016-09, Vol.148, p.147-153 |
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| container_title | Clinical neurology and neurosurgery |
| container_volume | 148 |
| creator | Erer, Sevda Egeli, Unal Zarifoglu, Mehmet Tezcan, Gulcin Cecener, Gulsah Tunca, Berrin Ak, Secil Demirdogen, Elif Kenangil, Gulay Kaleagası, Hakan Dogu, Okan Saka, Esen Elibol, Bulent |
| description | Highlights • Our study is the first to evaluate the frequency of SNCA mutations in a Turkey. • Pathogenic heterozygous PRKN mutations were identified in 3 of the 50 patients. • We did not detect any pathogenic DJ1 and PINK I mutations in our study cohort. |
| doi_str_mv | 10.1016/j.clineuro.2016.07.005 |
| format | Article |
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| fulltext | fulltext |
| identifier | ISSN: 0303-8467 |
| ispartof | Clinical neurology and neurosurgery, 2016-09, Vol.148, p.147-153 |
| issn | 0303-8467 1872-6968 |
| language | eng |
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| source | MEDLINE; Elsevier ScienceDirect Journals Complete |
| subjects | Adult Age Age of Onset alpha-Synuclein - genetics Deoxyribonucleic acid DJ1 DNA Family medical history Female Genes Genotype Genotype & phenotype Humans Male Middle Aged Mutation Neurology Neurosurgery PARK loci Parkinson Disease - genetics Parkinson Disease - physiopathology Parkinson's disease Parkinsonism Patients Phenotype PINK1 Population PRKN Protein Deglycase DJ-1 - genetics Protein Kinases - genetics SNCA Turkey Ubiquitin-Protein Ligases - genetics |
| title | Mutation Analysis of the PARKIN , PINK1 , DJ1, and SNCA genes in Turkish Early-Onset Parkinson’s Patients and Genotype-Phenotype Correlations |
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