. . . "6"^^ . " PRX" . "Roz\u0161\u00ED\u0159en\u00ED znalost\u00ED o molekulrn\u011B -genetick\u00E9m podkladu neuropatie Charcot-Marie-Tooth v \u010Desk\u00E9 populaci."@cs . "6"^^ . "Detekce mutac\u00ED gen\u016F GDAP1, LITAF, PRX, NEFL jako nov\u011B objeven\u00FDch p\u0159\u00ED\u010Din d\u011Bdi\u010Dn\u00FDch neuropati\u00ED Charcot-Marie-Tooth - dovy\u0161et\u0159en\u00ED rozs\u00E1hl\u00E9ho souboru v\u00EDce ne\u017E 300 \u010Desk\u00FDch rodin s ji\u017E vylou\u010Den\u00FDmi nej\u010Dast\u011Bj\u0161\u00EDmi mutacemi." . " HMSN" . "Charcot-Marie-Tooth; GDAP1; NEFL; LITAF1; PRX; HMSN; myelin; axon"@en . . "1A8254" . . . " myelin" . "Detection of mutations in the GDAP1, LITAF, PRX and NEFL genes as newly discovered possible causes of inherited neuropaties Charcot-Marie-Tooth - extended investigation in the large cohort of at least 300 Czech families without the most common mutations."@en . "0"^^ . "2007-08-08+02:00"^^ . "http://www.isvav.cz/projectDetail.do?rowId=1A8254"^^ . . . "0"^^ . "1"^^ . . . . "Zajistit pokra\u010Dov\u00E1n\u00ED projektu vy\u0161et\u0159en\u00ED molekul\u00E1rn\u00EDch p\u0159\u00ED\u010Din d\u011Bdi\u010Dn\u00FDch neuropati\u00ED roz\u0161\u00ED\u0159en\u00EDm vy\u0161et\u0159ovac\u00EDch mo\u017Enost\u00ED o anal\u00FDzu nov\u011B objeven\u00FDch kandid\u00E1tn\u00EDch gen\u016F - zejm\u00E9na LITAF, GDAP1, PRX a NEFL v ji\u017E shrom\u00E1\u017Ed\u011Bn\u00E9m souboru nejm\u00E9n\u011B 300 rodin s chorobami Charcot-Marie-Tooth s ji\u017E vylou\u010Den\u00FDmi nej\u010Dast\u011Bj\u0161\u00EDmi genov\u00FDmi mutacemi - CMT1A duplikace/ HNPP delece, Cx32, MPZ a PMP22." . . "Charcot-Marie-Tooth" . "To continue the long term project of elucidation of possible causes of inherited peripheral neuropathies by the extended analysis of recently discovered candidate genes - mainly LITAF, GDAP1, PRX and NEFL in a large previously collected cohort of at least 300 Czech Charcot-Marie-Tooth disease families with already excluded main mutations - CMT1A duplication/ HNPP deletion, Cx32, MPZ and PMP22 gene mutations."@en . . . " NEFL" . "New gene mutations in Czech families with early orset of Charcot-Marie-Tooth neuropathy."@en . . . " GDAP1" . . . . " LITAF1" .