| http://purl.uniprot.org/citations/18502641 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18502641 | http://www.w3.org/2000/01/rdf-schema#comment | "Different mutations, or combinations of mutations, in POLG1, the gene encoding pol gammaA, the catalytic subunit of mitochondrial DNA polymerase, are associated with a spectrum of clinical presentations including autosomal dominant or recessive progressive external ophthalmoplegia (PEO), juvenile-onset ataxia and epilepsy, and Alpers-Huttenlocher syndrome. Parkinsonian features have been reported as a late complication of POLG1-associated dominant PEO. Good response to levodopa or dopamine agonists, reduced dopamine uptake in the corpus striatum and neuronal loss of the Substantia Nigra pars compacta have been documented in a few cases. Here we report two novel mutations in POLG1 in a compound heterozygous patient with autosomal recessive PEO, followed by pseudo-orthostatic tremor evolving into levodopa-responsive parkinsonism. These observations support the hypothesis that mtDNA dysfunction is engaged in the pathogenesis of idiopathic Parkinson's disease."xsd:string |
| http://purl.uniprot.org/citations/18502641 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.nmd.2008.04.005"xsd:string |
| http://purl.uniprot.org/citations/18502641 | http://purl.uniprot.org/core/author | "Thomas A."xsd:string |
| http://purl.uniprot.org/citations/18502641 | http://purl.uniprot.org/core/author | "Invernizzi F."xsd:string |
| http://purl.uniprot.org/citations/18502641 | http://purl.uniprot.org/core/author | "Zeviani M."xsd:string |
| http://purl.uniprot.org/citations/18502641 | http://purl.uniprot.org/core/author | "Carrara F."xsd:string |
| http://purl.uniprot.org/citations/18502641 | http://purl.uniprot.org/core/author | "Onofrj M."xsd:string |
| http://purl.uniprot.org/citations/18502641 | http://purl.uniprot.org/core/author | "Varanese S."xsd:string |
| http://purl.uniprot.org/citations/18502641 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18502641 | http://purl.uniprot.org/core/name | "Neuromuscul Disord"xsd:string |
| http://purl.uniprot.org/citations/18502641 | http://purl.uniprot.org/core/pages | "460-464"xsd:string |
| http://purl.uniprot.org/citations/18502641 | http://purl.uniprot.org/core/title | "Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism."xsd:string |
| http://purl.uniprot.org/citations/18502641 | http://purl.uniprot.org/core/volume | "18"xsd:string |
| http://purl.uniprot.org/citations/18502641 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/18502641 |
| http://purl.uniprot.org/citations/18502641 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/18502641 |
| http://purl.uniprot.org/uniprot/#_P54098-mappedCitation-18502641 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18502641 |
| http://purl.uniprot.org/uniprot/#_A0A3G6VDW8-mappedCitation-18502641 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18502641 |
| http://purl.uniprot.org/uniprot/#_A0A3G6VDX0-mappedCitation-18502641 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18502641 |
| http://purl.uniprot.org/uniprot/#_A0A3G6VDX4-mappedCitation-18502641 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18502641 |
| http://purl.uniprot.org/uniprot/#_A0A3G6VDX6-mappedCitation-18502641 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18502641 |
| http://purl.uniprot.org/uniprot/#_A0A3G6VDY0-mappedCitation-18502641 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18502641 |
| http://purl.uniprot.org/uniprot/#_A0A0K2FP50-mappedCitation-18502641 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18502641 |
| http://purl.uniprot.org/uniprot/#_A0A0K2FPC3-mappedCitation-18502641 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18502641 |
| http://purl.uniprot.org/uniprot/#_A0A0K2FPC8-mappedCitation-18502641 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18502641 |