pubmed-article:15747360 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:15747360 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
pubmed-article:15747360 | lifeskim:mentions | umls-concept:C0152035 | lld:lifeskim |
pubmed-article:15747360 | lifeskim:mentions | umls-concept:C0019425 | lld:lifeskim |
pubmed-article:15747360 | lifeskim:mentions | umls-concept:C0018523 | lld:lifeskim |
pubmed-article:15747360 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
pubmed-article:15747360 | lifeskim:mentions | umls-concept:C0205182 | lld:lifeskim |
pubmed-article:15747360 | lifeskim:mentions | umls-concept:C1423814 | lld:lifeskim |
pubmed-article:15747360 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
pubmed-article:15747360 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
pubmed-article:15747360 | lifeskim:mentions | umls-concept:C0205198 | lld:lifeskim |
pubmed-article:15747360 | pubmed:issue | 7 | lld:pubmed |
pubmed-article:15747360 | pubmed:dateCreated | 2005-7-13 | lld:pubmed |
pubmed-article:15747360 | pubmed:abstractText | We investigated the presence of mutations in the pantothenate kinase (PANK2) gene in a 27-year-old male Chinese patient with atypical pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Automated DNA sequence analyses revealed compound heterozygous mutations in the exon 3 and 5. This patient had a 10-year history of PKAN characterized by a slight tremor of the right hand when writing at onset and a slow progressive rigidity of the neck and the right arm and resting tremor in upper extremities. Dysarthria, dysphagia, and dystonic-athetoid movements of the face and right fingers were marked. Magnetic resonance showed the typical "eye-of-the-tiger" sign. | lld:pubmed |
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pubmed-article:15747360 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15747360 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15747360 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15747360 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15747360 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15747360 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15747360 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15747360 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15747360 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15747360 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15747360 | pubmed:language | eng | lld:pubmed |
pubmed-article:15747360 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15747360 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:15747360 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15747360 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15747360 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15747360 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15747360 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15747360 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15747360 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:15747360 | pubmed:month | Jul | lld:pubmed |
pubmed-article:15747360 | pubmed:issn | 0885-3185 | lld:pubmed |
pubmed-article:15747360 | pubmed:author | pubmed-author:ShiS MSM | lld:pubmed |
pubmed-article:15747360 | pubmed:author | pubmed-author:HayflickSusan... | lld:pubmed |
pubmed-article:15747360 | pubmed:author | pubmed-author:WestawayShawn... | lld:pubmed |
pubmed-article:15747360 | pubmed:author | pubmed-author:LongZhi-gaoZG | lld:pubmed |
pubmed-article:15747360 | pubmed:author | pubmed-author:TangBei-shaBS | lld:pubmed |
pubmed-article:15747360 | pubmed:author | pubmed-author:ZhangYu-huYH | lld:pubmed |
pubmed-article:15747360 | pubmed:author | pubmed-author:GuoJi-fengJF | lld:pubmed |
pubmed-article:15747360 | pubmed:author | pubmed-author:ZhaoAi-lingAL | lld:pubmed |
pubmed-article:15747360 | pubmed:copyrightInfo | Copyright 2005 Movement Disorder Society. | lld:pubmed |
pubmed-article:15747360 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:15747360 | pubmed:volume | 20 | lld:pubmed |
pubmed-article:15747360 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:15747360 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:15747360 | pubmed:pagination | 819-21 | lld:pubmed |
pubmed-article:15747360 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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pubmed-article:15747360 | pubmed:meshHeading | pubmed-meshheading:15747360... | lld:pubmed |
pubmed-article:15747360 | pubmed:year | 2005 | lld:pubmed |
pubmed-article:15747360 | pubmed:articleTitle | Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration. | lld:pubmed |
pubmed-article:15747360 | pubmed:affiliation | Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China. | lld:pubmed |
pubmed-article:15747360 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:15747360 | pubmed:publicationType | Comparative Study | lld:pubmed |
pubmed-article:15747360 | pubmed:publicationType | Case Reports | lld:pubmed |
pubmed-article:15747360 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
entrez-gene:80025 | entrezgene:pubmed | pubmed-article:15747360 | lld:entrezgene |
http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:15747360 | lld:entrezgene |
lhgdn:association:3998 | lhgdn:found_in | pubmed-article:15747360 | lld:lhgdn |