A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report.
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| Title: | A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report. |
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| Authors: | Gyening, Yeboah Kofi1,2,3 (AUTHOR), Boris, Keren3,4 (AUTHOR), Cyril, Mignot3,5 (AUTHOR), Brush, Richard S.1,2,3 (AUTHOR), Nassogne, Marie-Cécile5 (AUTHOR) marie-cecile.nassogne@saintluc.uclouvain.be, Agbaga, Martin-Paul1,2,3 (AUTHOR) martin-paul-agbaga@ouhsc.edu |
| Source: | Acta Neuropathologica Communications. 8/11/2023, Vol. 11 Issue 1, p1-10. 10p. |
| Database: | Academic Search Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 169911403 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Gyening%2C+Yeboah+Kofi%22">Gyening, Yeboah Kofi</searchLink><relatesTo>1,2,3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Boris%2C+Keren%22">Boris, Keren</searchLink><relatesTo>3,4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Cyril%2C+Mignot%22">Cyril, Mignot</searchLink><relatesTo>3,5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Brush%2C+Richard+S%2E%22">Brush, Richard S.</searchLink><relatesTo>1,2,3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Nassogne%2C+Marie-Cécile%22">Nassogne, Marie-Cécile</searchLink><relatesTo>5</relatesTo> (AUTHOR)<i> marie-cecile.nassogne@saintluc.uclouvain.be</i><br /><searchLink fieldCode="AR" term="%22Agbaga%2C+Martin-Paul%22">Agbaga, Martin-Paul</searchLink><relatesTo>1,2,3</relatesTo> (AUTHOR)<i> martin-paul-agbaga@ouhsc.edu</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Acta+Neuropathologica+Communications%22">Acta Neuropathologica Communications</searchLink>. 8/11/2023, Vol. 11 Issue 1, p1-10. 10p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=169911403 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s40478-023-01628-4 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 10 StartPage: 1 Titles: – TitleFull: A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Gyening, Yeboah Kofi – PersonEntity: Name: NameFull: Boris, Keren – PersonEntity: Name: NameFull: Cyril, Mignot – PersonEntity: Name: NameFull: Brush, Richard S. – PersonEntity: Name: NameFull: Nassogne, Marie-Cécile – PersonEntity: Name: NameFull: Agbaga, Martin-Paul IsPartOfRelationships: – BibEntity: Dates: – D: 11 M: 08 Text: 8/11/2023 Type: published Y: 2023 Identifiers: – Type: issn-print Value: 20515960 Numbering: – Type: volume Value: 11 – Type: issue Value: 1 Titles: – TitleFull: Acta Neuropathologica Communications Type: main |
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