| pubmed-article:10923647 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:10923647 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:10923647 | lifeskim:mentions | umls-concept:C1556085 | lld:lifeskim |
| pubmed-article:10923647 | lifeskim:mentions | umls-concept:C0030567 | lld:lifeskim |
| pubmed-article:10923647 | lifeskim:mentions | umls-concept:C1421309 | lld:lifeskim |
| pubmed-article:10923647 | lifeskim:mentions | umls-concept:C0004083 | lld:lifeskim |
| pubmed-article:10923647 | lifeskim:mentions | umls-concept:C0796357 | lld:lifeskim |
| pubmed-article:10923647 | lifeskim:mentions | umls-concept:C2603343 | lld:lifeskim |
| pubmed-article:10923647 | pubmed:issue | 10 | lld:pubmed |
| pubmed-article:10923647 | pubmed:dateCreated | 2000-11-13 | lld:pubmed |
| pubmed-article:10923647 | pubmed:abstractText | Recently, an Ile93Met substitution has been identified in the ubiquitin carboxy-terminal hydrolase L1 (UCHL1) gene in a single German PD family with autosomal dominant inheritance. To determine whether mutations in the UCHL1 gene are causative for Parkinson's disease (PD) a detailed mutation analysis was performed in a large sample of German sporadic and familial PD patients. We found no disease-causing mutation in the coding region of the UCHL1 gene. Direct sequencing revealed six intronic polymorphisms in the UCHL1 gene. Analysis of an S18Y polymorphism in exon 3 of the UCHL1 gene in sporadic PD patients and controls showed carriers of allele 2 (tyrosine) significantly less frequent in patients with a reduced risk of 0.57 (CI = 0.36-0.88; p = 0.012, p(c) = 0.047, chi2 = 6.31). Our study shows that sequence variations in the coding region of UCHL1 are a rare event. A protective effect of a certain UCHL1 variant in the pathogenesis of sporadic PD is suggested, underlining the relevance of UCHL1 in neurodegeneration. | lld:pubmed |
| pubmed-article:10923647 | pubmed:language | eng | lld:pubmed |
| pubmed-article:10923647 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10923647 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:10923647 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10923647 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10923647 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10923647 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10923647 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:10923647 | pubmed:issn | 0959-4965 | lld:pubmed |
| pubmed-article:10923647 | pubmed:author | pubmed-author:BergDD | lld:pubmed |
| pubmed-article:10923647 | pubmed:author | pubmed-author:BergerKK | lld:pubmed |
| pubmed-article:10923647 | pubmed:author | pubmed-author:MüllerTT | lld:pubmed |
| pubmed-article:10923647 | pubmed:author | pubmed-author:PrzuntekHH | lld:pubmed |
| pubmed-article:10923647 | pubmed:author | pubmed-author:EpplenJ TJT | lld:pubmed |
| pubmed-article:10923647 | pubmed:author | pubmed-author:KuhnWW | lld:pubmed |
| pubmed-article:10923647 | pubmed:author | pubmed-author:BeckerGG | lld:pubmed |
| pubmed-article:10923647 | pubmed:author | pubmed-author:KrügerRR | lld:pubmed |
| pubmed-article:10923647 | pubmed:author | pubmed-author:RieszTT | lld:pubmed |
| pubmed-article:10923647 | pubmed:author | pubmed-author:SchölsLL | lld:pubmed |
| pubmed-article:10923647 | pubmed:author | pubmed-author:LeroyEE | lld:pubmed |
| pubmed-article:10923647 | pubmed:author | pubmed-author:Polymeropoulo... | lld:pubmed |
| pubmed-article:10923647 | pubmed:author | pubmed-author:WoitallaDD | lld:pubmed |
| pubmed-article:10923647 | pubmed:author | pubmed-author:WintermeyerPP | lld:pubmed |
| pubmed-article:10923647 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10923647 | pubmed:day | 14 | lld:pubmed |
| pubmed-article:10923647 | pubmed:volume | 11 | lld:pubmed |
| pubmed-article:10923647 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10923647 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10923647 | pubmed:pagination | 2079-82 | lld:pubmed |
| pubmed-article:10923647 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:10923647 | pubmed:meshHeading | pubmed-meshheading:10923647... | lld:pubmed |
| pubmed-article:10923647 | pubmed:meshHeading | pubmed-meshheading:10923647... | lld:pubmed |
| pubmed-article:10923647 | pubmed:meshHeading | pubmed-meshheading:10923647... | lld:pubmed |
| pubmed-article:10923647 | pubmed:meshHeading | pubmed-meshheading:10923647... | lld:pubmed |
| pubmed-article:10923647 | pubmed:meshHeading | pubmed-meshheading:10923647... | lld:pubmed |
| pubmed-article:10923647 | pubmed:meshHeading | pubmed-meshheading:10923647... | lld:pubmed |
| pubmed-article:10923647 | pubmed:meshHeading | pubmed-meshheading:10923647... | lld:pubmed |
| pubmed-article:10923647 | pubmed:meshHeading | pubmed-meshheading:10923647... | lld:pubmed |
| pubmed-article:10923647 | pubmed:meshHeading | pubmed-meshheading:10923647... | lld:pubmed |
| pubmed-article:10923647 | pubmed:meshHeading | pubmed-meshheading:10923647... | lld:pubmed |
| pubmed-article:10923647 | pubmed:meshHeading | pubmed-meshheading:10923647... | lld:pubmed |
| pubmed-article:10923647 | pubmed:meshHeading | pubmed-meshheading:10923647... | lld:pubmed |
| pubmed-article:10923647 | pubmed:meshHeading | pubmed-meshheading:10923647... | lld:pubmed |
| pubmed-article:10923647 | pubmed:meshHeading | pubmed-meshheading:10923647... | lld:pubmed |
| pubmed-article:10923647 | pubmed:meshHeading | pubmed-meshheading:10923647... | lld:pubmed |
| pubmed-article:10923647 | pubmed:meshHeading | pubmed-meshheading:10923647... | lld:pubmed |
| pubmed-article:10923647 | pubmed:meshHeading | pubmed-meshheading:10923647... | lld:pubmed |
| pubmed-article:10923647 | pubmed:year | 2000 | lld:pubmed |
| pubmed-article:10923647 | pubmed:articleTitle | Mutation analysis and association studies of the UCHL1 gene in German Parkinson's disease patients. | lld:pubmed |
| pubmed-article:10923647 | pubmed:affiliation | Department of Molecular Human Genetics, Ruhr-University Bochum, Germany. | lld:pubmed |
| pubmed-article:10923647 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10923647 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10923647 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10923647 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10923647 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10923647 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10923647 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10923647 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10923647 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10923647 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10923647 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10923647 | lld:pubmed |
