Publication
Late‐onset Levodopa Responsive Parkinsonism Due to Polymerase γ 1 Mutations
| dc.contributor.author | Calejo, Margarida | |
| dc.contributor.author | Vilarinho, Laura | |
| dc.contributor.author | Neiva, Raquel | |
| dc.contributor.author | Botelho, Luís | |
| dc.contributor.author | Ramalheira, João | |
| dc.contributor.author | Taipa, Ricardo | |
| dc.contributor.author | Melo‐Pires, Manuel | |
| dc.contributor.author | Lima, António Bastos | |
| dc.contributor.author | Damásio, Joana | |
| dc.date.accessioned | 2019-03-22T12:01:35Z | |
| dc.date.available | 2019-03-22T12:01:35Z | |
| dc.date.issued | 2018-10-17 | |
| dc.description.abstract | Introduction: Polymerase γI (POLG) gene mutations may induce mitochondrial DNA (mtDNA) instability leading to its depletion or multiple deletions1 and causing a wide spectrum of multisystemic disorders. Commonly described phenotypes include AlpersHuttenlocher syndrome, childhood myocerebrohepatopathy, myoclonic epilepsy myopathy and sensory ataxia, mitochondrial recessive ataxia syndrome, sensory ataxia neuropathy with dysarthria, and ophthalmoplegia and progressive external ophthalmoplegia (PEO).1 Levodopa-responsive parkinsonism has been described as a late feature in patients with PEO. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Mov Disord Clin Pract. 2018 Oct 17;5(6):645-648. doi: 10.1002/mdc3.12668. eCollection 2018 Nov-Dec | pt_PT |
| dc.identifier.doi | 10.1002/mdc3.12668 | pt_PT |
| dc.identifier.issn | 2330-1619 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/6273 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Wiley | pt_PT |
| dc.relation.publisherversion | https://onlinelibrary.wiley.com/doi/abs/10.1002/mdc3.12668 | pt_PT |
| dc.subject | Levodopa‐responsive Parkinsonism | pt_PT |
| dc.subject | Polymerase gamma 1 Mutations | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.title | Late‐onset Levodopa Responsive Parkinsonism Due to Polymerase γ 1 Mutations | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 648 | pt_PT |
| oaire.citation.issue | 6 | pt_PT |
| oaire.citation.startPage | 645 | pt_PT |
| oaire.citation.title | Movement Disorders Clinical Practice | pt_PT |
| oaire.citation.volume | 5 | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | article | pt_PT |
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