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A novel variant of dehydrodolichol diphosphate synthase (DHDDS) mutation with adult-onset progressive myoclonus ataxia
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| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Kim, Jinhee | - |
| dc.contributor.author | Kim, Ilsoo | - |
| dc.contributor.author | Koh, Seong-Beom | - |
| dc.date.accessioned | 2022-03-01T03:42:04Z | - |
| dc.date.available | 2022-03-01T03:42:04Z | - |
| dc.date.created | 2022-02-09 | - |
| dc.date.issued | 2021-06 | - |
| dc.identifier.issn | 1353-8020 | - |
| dc.identifier.uri | https://scholar.korea.ac.kr/handle/2021.sw.korea/137329 | - |
| dc.description.abstract | We report a novel variant of DHDDS mutation in a patient with progressive adult-onset myoclonus ataxia. The mutation in our patient was different from previous reports of denovo mutations in DHDDS in 6 patients who showed tremor-like myoclonus and generalized epilepsy. | - |
| dc.language | English | - |
| dc.language.iso | en | - |
| dc.publisher | ELSEVIER SCI LTD | - |
| dc.title | A novel variant of dehydrodolichol diphosphate synthase (DHDDS) mutation with adult-onset progressive myoclonus ataxia | - |
| dc.type | Article | - |
| dc.contributor.affiliatedAuthor | Koh, Seong-Beom | - |
| dc.identifier.doi | 10.1016/j.parkreldis.2021.05.010 | - |
| dc.identifier.scopusid | 2-s2.0-85106389921 | - |
| dc.identifier.wosid | 000668350200026 | - |
| dc.identifier.bibliographicCitation | PARKINSONISM & RELATED DISORDERS, v.87, pp.135 - 136 | - |
| dc.relation.isPartOf | PARKINSONISM & RELATED DISORDERS | - |
| dc.citation.title | PARKINSONISM & RELATED DISORDERS | - |
| dc.citation.volume | 87 | - |
| dc.citation.startPage | 135 | - |
| dc.citation.endPage | 136 | - |
| dc.type.rims | ART | - |
| dc.type.docType | Letter | - |
| dc.description.journalClass | 1 | - |
| dc.description.journalRegisteredClass | scie | - |
| dc.description.journalRegisteredClass | scopus | - |
| dc.relation.journalResearchArea | Neurosciences & Neurology | - |
| dc.relation.journalWebOfScienceCategory | Clinical Neurology | - |
| dc.subject.keywordAuthor | DHDDS mutation | - |
| dc.subject.keywordAuthor | Progressive myoclonic epilepsy | - |
| dc.subject.keywordAuthor | Progressive myoclonus ataxia | - |
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