| pubmed-article:15554146 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:15554146 | lifeskim:mentions | umls-concept:C0752105 | lld:lifeskim |
| pubmed-article:15554146 | lifeskim:mentions | umls-concept:C0796344 | lld:lifeskim |
| pubmed-article:15554146 | lifeskim:mentions | umls-concept:C0205210 | lld:lifeskim |
| pubmed-article:15554146 | lifeskim:mentions | umls-concept:C0035970 | lld:lifeskim |
| pubmed-article:15554146 | pubmed:issue | 8 | lld:pubmed |
| pubmed-article:15554146 | pubmed:dateCreated | 2004-11-19 | lld:pubmed |
| pubmed-article:15554146 | pubmed:abstractText | Clinical and genetic analysis of juvenile parkinsonism was performed in 26 sibs from 20 families. Heterogeneity of the disorder was observed. Mutations in the parkin gene (locus PARK2, chromosome 6q25.2-27), with the prevalence of deletions over point mutations, have been identified in 41%. The comparative clinical analyses of patients examined confirmed the phenotypical polymorphism of "parkinopathy". We also showed the absence of asymmetric manifestation--an important and underestimated so far sign of the disease. The results of the study may be considered as a valuable clue to the clinical diagnosis of parkin-related juvenile parkinsonism in Russian population and implemented for mutation screening and medico-genetic counseling of affected families. | lld:pubmed |
| pubmed-article:15554146 | pubmed:language | rus | lld:pubmed |
| pubmed-article:15554146 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15554146 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:15554146 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15554146 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15554146 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:15554146 | pubmed:issn | 1997-7298 | lld:pubmed |
| pubmed-article:15554146 | pubmed:author | pubmed-author:LimborskaiaS... | lld:pubmed |
| pubmed-article:15554146 | pubmed:author | pubmed-author:MarkovaE DED | lld:pubmed |
| pubmed-article:15554146 | pubmed:author | pubmed-author:Ivanova-Smole... | lld:pubmed |
| pubmed-article:15554146 | pubmed:author | pubmed-author:BriceAA | lld:pubmed |
| pubmed-article:15554146 | pubmed:author | pubmed-author:IllarioshkinS... | lld:pubmed |
| pubmed-article:15554146 | pubmed:author | pubmed-author:Slominski?P... | lld:pubmed |
| pubmed-article:15554146 | pubmed:author | pubmed-author:LevinO SOS | lld:pubmed |
| pubmed-article:15554146 | pubmed:author | pubmed-author:GiannacciniCC | lld:pubmed |
| pubmed-article:15554146 | pubmed:author | pubmed-author:MiloserdovaO... | lld:pubmed |
| pubmed-article:15554146 | pubmed:author | pubmed-author:ProskokovaT... | lld:pubmed |
| pubmed-article:15554146 | pubmed:author | pubmed-author:BagyevaB... | lld:pubmed |
| pubmed-article:15554146 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:15554146 | pubmed:volume | 104 | lld:pubmed |
| pubmed-article:15554146 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:15554146 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:15554146 | pubmed:pagination | 66-72 | lld:pubmed |
| pubmed-article:15554146 | pubmed:dateRevised | 2009-11-19 | lld:pubmed |
| pubmed-article:15554146 | pubmed:meshHeading | pubmed-meshheading:15554146... | lld:pubmed |
| pubmed-article:15554146 | pubmed:meshHeading | pubmed-meshheading:15554146... | lld:pubmed |
| pubmed-article:15554146 | pubmed:meshHeading | pubmed-meshheading:15554146... | lld:pubmed |
| pubmed-article:15554146 | pubmed:meshHeading | pubmed-meshheading:15554146... | lld:pubmed |
| pubmed-article:15554146 | pubmed:meshHeading | pubmed-meshheading:15554146... | lld:pubmed |
| pubmed-article:15554146 | pubmed:meshHeading | pubmed-meshheading:15554146... | lld:pubmed |
| pubmed-article:15554146 | pubmed:meshHeading | pubmed-meshheading:15554146... | lld:pubmed |
| pubmed-article:15554146 | pubmed:meshHeading | pubmed-meshheading:15554146... | lld:pubmed |
| pubmed-article:15554146 | pubmed:meshHeading | pubmed-meshheading:15554146... | lld:pubmed |
| pubmed-article:15554146 | pubmed:meshHeading | pubmed-meshheading:15554146... | lld:pubmed |
| pubmed-article:15554146 | pubmed:meshHeading | pubmed-meshheading:15554146... | lld:pubmed |
| pubmed-article:15554146 | pubmed:meshHeading | pubmed-meshheading:15554146... | lld:pubmed |
| pubmed-article:15554146 | pubmed:meshHeading | pubmed-meshheading:15554146... | lld:pubmed |
| pubmed-article:15554146 | pubmed:meshHeading | pubmed-meshheading:15554146... | lld:pubmed |
| pubmed-article:15554146 | pubmed:meshHeading | pubmed-meshheading:15554146... | lld:pubmed |
| pubmed-article:15554146 | pubmed:meshHeading | pubmed-meshheading:15554146... | lld:pubmed |
| pubmed-article:15554146 | pubmed:meshHeading | pubmed-meshheading:15554146... | lld:pubmed |
| pubmed-article:15554146 | pubmed:year | 2004 | lld:pubmed |
| pubmed-article:15554146 | pubmed:articleTitle | [Clinical and genetic analysis of juvenile parkinsonism in Russia]. | lld:pubmed |
| pubmed-article:15554146 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:15554146 | pubmed:publicationType | Comparative Study | lld:pubmed |
| pubmed-article:15554146 | pubmed:publicationType | English Abstract | lld:pubmed |
| pubmed-article:15554146 | pubmed:publicationType | Case Reports | lld:pubmed |
