. . "2006-06-23+02:00"^^ . . . "Extension of molecular genetic methods in spinocerebellar ataxias in order to improve diagnostic approaches in patients with ataxia. Longitudinal clinical and electrophysiological study on patients with diagnosed various types of SCA focused on phenotype/genotype correlation. Introduction of advanced molecular genetic diagnostic methods of Pelizaeus Merzbacher disease/spastic paraplegia 2 which could be used for improvement of differential diagnosis of ataxias as well as clasical form of this disease."@en . "Unik\u00E1rn\u00ED v\u00FDsledky - mutace de novo SCA7,kombinace mutace ve FRDA genu s premutac\u00ED ve FMR1 genu, prvn\u00ED pacient s adultn\u00ED formou Tayovy-Sachsovy choroby v \u010CR."@cs . . . . . "12"^^ . "spinocerebellar ataxia" . "12"^^ . "PLP gen" . "0"^^ . . . "1"^^ . . "DNA analysis" . "Autosom\u00E1ln\u011B dominantn\u00ED spinocerebel\u00E1rn\u00ED ataxie - roz\u0161\u00ED\u0159en\u00ED molekul\u00E1rn\u011B genetick\u00E9 diagnostiky s pokra\u010Duj\u00EDc\u00ED longitudin\u00E1ln\u00ED multidisciplin\u00E1rn\u00ED studi\u00ED rodin pacient\u016F." . "http://www.isvav.cz/projectDetail.do?rowId=NM7405"^^ . "0"^^ . "Roz\u0161\u00ED\u0159en\u00ED DNA metod v oblasti jinak nediagnostikovateln\u00FDch heredit\u00E1rn\u00EDch spinocerebel\u00E1rn\u00EDch chorob s c\u00EDlem umo\u017Enit tak z\u00FA\u017Een\u00ED okruhu \u0161irok\u00E9 diferenci\u00E1ln\u00ED diagnostiky u pacient\u016F s ataxi\u00ED. Sledov\u00E1n\u00ED v\u00FDvoje jednotliv\u00FDch verifikovan\u00FDch forem SCA v longitudin\u00E1ln\u00ED studii po str\u00E1nce klinick\u00E9 i elektrofyziologick\u00E9 s c\u00EDlem up\u0159esn\u011Bn\u00ED korelace fenotypu a genotypu. Zaveden\u00ED diagnostiky bodov\u00FDch mutac\u00ED PLP genu (choroba Pelizaeus-Merzbacherova/spastick\u00E1 paraplegie 2), kter\u00E1 dopln\u00ED dostupnou diagnostiku duplikac\u00ED a umo\u017En\u00ED zp\u0159esn\u011Bn\u00ED diagnostiky jak ataxi\u00ED, tak klasick\u00FDch forem Pelizaeus-Merzbacherovy leukodystrofie." . . . . . "NM7405" . . "spinocerebellar ataxia;DNA analysis;trinucleotide sequence expansi;PLP gen;correlation phenotype/genotype"@en . . "trinucleotide sequence expansi" . . "The unique cases in CR reported - de novo mutation in SCA7 gene, concomitancy of mutation in FRDA gene and FMR1 premutation, first adult case of Tay-Sachs disease in Czech Republic."@en . . "Spinocerebellar ataxias - the extension of molecular methods with onwards longitudinal multidisciplinary study of patients\u00B4families."@en . .