| pubmed-article:9634534 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9634534 | lifeskim:mentions | umls-concept:C0015031 | lld:lifeskim |
| pubmed-article:9634534 | lifeskim:mentions | umls-concept:C0205147 | lld:lifeskim |
| pubmed-article:9634534 | lifeskim:mentions | umls-concept:C0752099 | lld:lifeskim |
| pubmed-article:9634534 | lifeskim:mentions | umls-concept:C0008630 | lld:lifeskim |
| pubmed-article:9634534 | lifeskim:mentions | umls-concept:C1522508 | lld:lifeskim |
| pubmed-article:9634534 | lifeskim:mentions | umls-concept:C0024779 | lld:lifeskim |
| pubmed-article:9634534 | lifeskim:mentions | umls-concept:C1704666 | lld:lifeskim |
| pubmed-article:9634534 | lifeskim:mentions | umls-concept:C1517892 | lld:lifeskim |
| pubmed-article:9634534 | lifeskim:mentions | umls-concept:C0208973 | lld:lifeskim |
| pubmed-article:9634534 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:9634534 | pubmed:dateCreated | 1998-8-13 | lld:pubmed |
| pubmed-article:9634534 | pubmed:abstractText | Parkinson disease (PD) is a common neurodegenerative condition associated with degeneration of dopaminergic neurons in the zona compacta of the substantia nigra. There is increasing evidence that genetic factors play a role in the etiology of PD, although genetic heterogeneity is likely. An autosomal dominant syndrome with many similarities to sporadic PD has been mapped to 4q21-22 in a large Italian pedigree and has been found to be due to mutation of the alpha-synuclein gene. However, this gene appears to account for only a minority of PD, and a susceptibility locus for autosomal dominant parkinsonism has recently been mapped, on 2p13. Autosomal recessive juvenile parkinsonism (JP), which shows marked clinical similarity to PD, maps to 6q25.2-q27. We found linkage to this region in a group of 15 families from four distinct ethnic backgrounds. A full genomic screen excluded other candidate regions. We have constructed a detailed genetic map of the linked region and have mapped the position of the manganese superoxide dismutase gene (SOD2). Recombination events restricted the JP locus to a 6.9-cM region and excluded SOD2. The apparent homozygosity for null alleles at D6S955 in one family suggested a deletion and finer localization of the JP locus. | lld:pubmed |
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| pubmed-article:9634534 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9634534 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9634534 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:9634534 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9634534 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9634534 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:9634534 | pubmed:issn | 0002-9297 | lld:pubmed |
| pubmed-article:9634534 | pubmed:author | pubmed-author:YamamuraYY | lld:pubmed |
| pubmed-article:9634534 | pubmed:author | pubmed-author:UchidaMM | lld:pubmed |
| pubmed-article:9634534 | pubmed:author | pubmed-author:NygaardT GTG | lld:pubmed |
| pubmed-article:9634534 | pubmed:author | pubmed-author:KuzuharaSS | lld:pubmed |
| pubmed-article:9634534 | pubmed:author | pubmed-author:JonesA CAC | lld:pubmed |
| pubmed-article:9634534 | pubmed:author | pubmed-author:YanagiTT | lld:pubmed |
| pubmed-article:9634534 | pubmed:author | pubmed-author:HubbleJJ | lld:pubmed |
| pubmed-article:9634534 | pubmed:author | pubmed-author:WeeksD EDE | lld:pubmed |
| pubmed-article:9634534 | pubmed:author | pubmed-author:ElibolBB | lld:pubmed |
| pubmed-article:9634534 | pubmed:author | pubmed-author:BohlegaSS | lld:pubmed |
| pubmed-article:9634534 | pubmed:author | pubmed-author:AlmasyLL | lld:pubmed |
| pubmed-article:9634534 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9634534 | pubmed:volume | 63 | lld:pubmed |
| pubmed-article:9634534 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9634534 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9634534 | pubmed:pagination | 80-7 | lld:pubmed |
| pubmed-article:9634534 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
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| pubmed-article:9634534 | pubmed:meshHeading | pubmed-meshheading:9634534-... | lld:pubmed |
| pubmed-article:9634534 | pubmed:year | 1998 | lld:pubmed |
| pubmed-article:9634534 | pubmed:articleTitle | Autosomal recessive juvenile parkinsonism maps to 6q25.2-q27 in four ethnic groups: detailed genetic mapping of the linked region. | lld:pubmed |
| pubmed-article:9634534 | pubmed:affiliation | Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA. | lld:pubmed |
| pubmed-article:9634534 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:9634534 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:9634534 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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