http://purl.uniprot.org/citations/15699391 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/15699391 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/15699391 | http://www.w3.org/2000/01/rdf-schema#comment | "Primary muscle coenzyme Q10 (CoQ10) deficiency is an apparently autosomal recessive condition with heterogeneous clinical presentations. Patients with these disorders improve with CoQ10 supplementation. In a family with ataxia and CoQ10 deficiency, analysis of genome-wide microsatellite markers suggested linkage of the disease to chromosome 9p13 and led to identification of an aprataxin gene (APTX) mutation that causes ataxia oculomotor apraxia (AOA1 [MIM606350]). The authors' observations indicate that CoQ10 deficiency may contribute to the pathogenesis of AOA1."xsd:string |
http://purl.uniprot.org/citations/15699391 | http://purl.org/dc/terms/identifier | "doi:10.1212/01.wnl.0000150588.75281.58"xsd:string |
http://purl.uniprot.org/citations/15699391 | http://purl.org/dc/terms/identifier | "doi:10.1212/01.wnl.0000150588.75281.58"xsd:string |
http://purl.uniprot.org/citations/15699391 | http://purl.uniprot.org/core/author | "Mootha V.K."xsd:string |
http://purl.uniprot.org/citations/15699391 | http://purl.uniprot.org/core/author | "Mootha V.K."xsd:string |
http://purl.uniprot.org/citations/15699391 | http://purl.uniprot.org/core/author | "Hirano M."xsd:string |
http://purl.uniprot.org/citations/15699391 | http://purl.uniprot.org/core/author | "Hirano M."xsd:string |
http://purl.uniprot.org/citations/15699391 | http://purl.uniprot.org/core/author | "Akman H.O."xsd:string |
http://purl.uniprot.org/citations/15699391 | http://purl.uniprot.org/core/author | "Akman H.O."xsd:string |
http://purl.uniprot.org/citations/15699391 | http://purl.uniprot.org/core/author | "DiMauro S."xsd:string |
http://purl.uniprot.org/citations/15699391 | http://purl.uniprot.org/core/author | "DiMauro S."xsd:string |
http://purl.uniprot.org/citations/15699391 | http://purl.uniprot.org/core/author | "Kattah A.G."xsd:string |
http://purl.uniprot.org/citations/15699391 | http://purl.uniprot.org/core/author | "Kattah A.G."xsd:string |
http://purl.uniprot.org/citations/15699391 | http://purl.uniprot.org/core/author | "Naini A."xsd:string |
http://purl.uniprot.org/citations/15699391 | http://purl.uniprot.org/core/author | "Naini A."xsd:string |
http://purl.uniprot.org/citations/15699391 | http://purl.uniprot.org/core/author | "Quinzii C.M."xsd:string |
http://purl.uniprot.org/citations/15699391 | http://purl.uniprot.org/core/author | "Quinzii C.M."xsd:string |
http://purl.uniprot.org/citations/15699391 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
http://purl.uniprot.org/citations/15699391 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
http://purl.uniprot.org/citations/15699391 | http://purl.uniprot.org/core/name | "Neurology"xsd:string |
http://purl.uniprot.org/citations/15699391 | http://purl.uniprot.org/core/name | "Neurology"xsd:string |
http://purl.uniprot.org/citations/15699391 | http://purl.uniprot.org/core/pages | "539-541"xsd:string |
http://purl.uniprot.org/citations/15699391 | http://purl.uniprot.org/core/pages | "539-541"xsd:string |