"0"^^ . . "2007-01-01+01:00"^^ . "http://www.isvav.cz/projectDetail.do?rowId=NR9215"^^ . . . . "1"^^ . "1"^^ . "I. Projekt se zam\u011B\u0159uje na v\u00FDb\u011Br a c\u00EDlen\u00E9 genomov\u00E9 anal\u00FDzy vybran\u00FDch onemocn\u011Bn\u00ED s poruchami hybnosti: Parkinsonova nemoc, torsn\u00ED dystonie, esenci\u00E1ln\u00ED tremor a spin\u00E1ln\u00ED muskul\u00E1rn\u00ED atrofie. Genetick\u00E9 studie p\u0159isp\u011Bj\u00ED k pozn\u00E1n\u00ED etiopatogeneze t\u011Bchto onemocn\u011Bn\u00ED. II. Anal\u00FDza m\u016F\u017Ee prok\u00E1zat genov\u00E9 mutace u \u010D\u00E1sti na\u0161ich nemocn\u00FDch se sporadick\u00FDm v\u00FDskytem sledovan\u00FDch onemocn\u011Bn\u00ED: PARK2 a LRRK2 u Parkinsonovy nemoci, DYT 1, GCH1, SGCE a DRD2 u torn\u00ED dystonie. III. Haplotypov\u00E9 anal\u00FDzy v lokusu ETM2 a studie exprese protein\u016F HS1-BP3 a FLJ21820 mohou p\u0159isp\u011Bt k objasn\u011Bn\u00ED patogeneze esenci\u00E1ln\u00EDho t\u0159esu. Budeme zkoumat vztah genetick\u00FDch marker\u016F k dlouhov\u011Bkosti a k dal\u0161\u00EDm dosud nevysv\u011Btlen\u00FDm jev\u016Fm spojen\u00FDm s esenc. t\u0159esem. IV. U SMA budeme prov\u00E1d\u011Bt anal\u00FDzy po\u010Dtu transkript\u016F SMN2 genu ve vztahu ke klinick\u00E9mu stavu a k mo\u017Enostem l\u00E9\u010Debn\u00E9ho ovlivn\u011Bn\u00ED." . . . "2009-12-18+01:00"^^ . "2009-12-31+01:00"^^ . " dystonia" . "Molecular pathology and pathophysiology of neurodegenerative diseases accompanied by movement disorders"@en . . "I. The project is focused on the genetic analysis of selected neurological movement disorders - Parkinson`s disease, torsion dystonia, essential tremor, and spinal muscular atrophy. The molecular genetic analyses will provide insight into pathogenesis of these disorders. II. The genetic analysis may demonstrate the appearance of new genetic mutations in a part of our patients with sporadic form of the corresponding diseases: PARK2 and LRRK2 in PD, DYT 1, GCH1, SGCE and DRD2 in ITD. III. The haplotype analyses of candidate locus ETM2 and expression of HS1-BP3 and FLJ21820 proteins may provide insight into pathogenesis of ET. We will also study the correlation between genetic markers and some unusual and unexplained features of ET such as longevity. IV. We will carry out the copy-number analysis of SMN2 gene out in SMA patients in purpose of possible genotype-phenotype correlation and therapeutic intervention."@en . " essential tremor" . "genetics" . . . . . . "Dob\u0159e \u0159e\u0161en\u00FD projekt s odpov\u00EDdaj\u00EDc\u00ED publika\u010Dn\u00ED aktivitou."@cs . . . . "NR9215" . "Molekul\u00E1rn\u00ED patologie a patofysiologie neurodegenerativn\u00EDch onemocn\u011Bn\u00ED prov\u00E1zen\u00FDch poruchami hybnosti." . "Well resolved research project with appropriate publication outcomes."@en . "genetics; Parkinson's disease; essential tremor; dystonia; SMA"@en . "12"^^ . . "12"^^ . "2011-04-27+02:00"^^ . . . " Parkinson's disease" .