"2007-12-31+01:00"^^ . "5"^^ . . "5"^^ . " neurodegeneration" . "2008-09-16+02:00"^^ . . " storage" . "Hlavn\u00EDm p\u0159\u00EDnosem projektu je molekul\u00E1rn\u011B genetick\u00E1 identifikace odli\u0161n\u00E9ho zastoupen\u00ED typ\u016F neuron\u00E1ln\u00EDch ceroidlipofuscin\u00F3z v \u010Desk\u00E9 populaci."@cs . . "DNA-diagnosis will enable mutation characterization in probands gene. Patients genotype will establish the diagnosis and the results will be correlated with publications of other authors. Probands mutations will be identified by sequencing and verified by a PCR-based technique (PCR/RFLP or ARMS). Techniques PCR/RFLP or ARMS will serve for genotyping of family members. Knowledge of the mutations will be emplyed in eventual prenetal diagnosis. Biochemical analysis will be performed (TPP I activity estimation,immunochemical and immunohistochemical analysis) to complete the description of our patients disorders."@en . . "CLN; NPC; neurodegeneration; storage; mutation; gene sequence"@en . . "http://www.isvav.cz/projectDetail.do?rowId=NR8351"^^ . "2007-03-02+01:00"^^ . . " NPC" . . " mutation" . . . . "0"^^ . "Molecular genetic identification of different neuronal ceroid lipofuscinosis subtypes in the Czech population."@en . "Mutation analysis in inherited metabolic neurodegenerative diseases with childhood onset"@en . . . "1"^^ . . "DNA diagnostika umo\u017En\u00ED ur\u010Dit typ mutace v genu probanda. Zji\u0161t\u011Bn\u00FD genotyp pacienta bude slou\u017Eit k potvrzen\u00ED diagnosy a v\u00FDsledky anal\u00FDzy budou porovn\u00E1ny s publikovan\u00FDmi v\u00FDsledky jin\u00FDch autor\u016F. Mutace budou u proband\u016F vyhled\u00E1v\u00E1ny sekvenov\u00E1n\u00EDm a ov\u011B\u0159eny nez\u00E1vislou technikou (PCR/RFLP nebo ARMS). Mutace probanda bude metodami PCR/RFLP nebo ARMS analyzov\u00E1na u dal\u0161\u00EDch \u010Dlen\u016F rodiny, kte\u0159\u00ED o vy\u0161et\u0159en\u00ED projev\u00ED z\u00E1jem. Znalost mutace bude slou\u017Eit i pro p\u0159\u00EDpadnou prenat\u00E1ln\u00ED diagnostiku. U pacient\u016F budou prov\u00E1d\u011Bna biochemick\u00E1 vy\u0161et\u0159en\u00ED (stanoven\u00ED aktivity TPP I, imunohistochemick\u00E1 a imunochemick\u00E1 vy\u0161et\u0159en\u00ED), aby popis p\u0159\u00EDznak\u016F nemoci u na\u0161ich pacient\u016F byl ucelen\u00FD." . . "0"^^ . . "2005-01-01+01:00"^^ . "Molekul\u00E1rn\u00ED anal\u00FDza u metabolicky podm\u00EDn\u011Bn\u00FDch d\u011Bdi\u010Dn\u00FDch neurodegenerativn\u00EDch onemocn\u011Bn\u00ED d\u011Btsk\u00E9ho v\u011Bku" . "CLN" . "NR8351" . . . . .