Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.
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| Title: | Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy. |
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| Authors: | Armirola-Ricaurte C, Morant L, Adant I, Hamed SA, Pipis M, Efthymiou S, Amor-Barris S, Atkinson D, Van de Vondel L, Tomic A, de Vriendt E, Zuchner S, Ghesquiere B, Hanna M, Houlden H, Lunn MP, Reilly MM, Rasic VM, Jordanova A |
| Source: | MedRxiv : the preprint server for health sciences [medRxiv] 2024 Jul 04. Date of Electronic Publication: 2024 Jul 04. |
| Publication Type: | Journal Article; Preprint |
| Journal Info: | Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 39006432 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Armirola-Ricaurte+C%22">Armirola-Ricaurte C</searchLink><br /><searchLink fieldCode="AU" term="%22Morant+L%22">Morant L</searchLink><br /><searchLink fieldCode="AU" term="%22Adant+I%22">Adant I</searchLink><br /><searchLink fieldCode="AU" term="%22Hamed+SA%22">Hamed SA</searchLink><br /><searchLink fieldCode="AU" term="%22Pipis+M%22">Pipis M</searchLink><br /><searchLink fieldCode="AU" term="%22Efthymiou+S%22">Efthymiou S</searchLink><br /><searchLink fieldCode="AU" term="%22Amor-Barris+S%22">Amor-Barris S</searchLink><br /><searchLink fieldCode="AU" term="%22Atkinson+D%22">Atkinson D</searchLink><br /><searchLink fieldCode="AU" term="%22Van+de+Vondel+L%22">Van de Vondel L</searchLink><br /><searchLink fieldCode="AU" term="%22Tomic+A%22">Tomic A</searchLink><br /><searchLink fieldCode="AU" term="%22de+Vriendt+E%22">de Vriendt E</searchLink><br /><searchLink fieldCode="AU" term="%22Zuchner+S%22">Zuchner S</searchLink><br /><searchLink fieldCode="AU" term="%22Ghesquiere+B%22">Ghesquiere B</searchLink><br /><searchLink fieldCode="AU" term="%22Hanna+M%22">Hanna M</searchLink><br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink><br /><searchLink fieldCode="AU" term="%22Lunn+MP%22">Lunn MP</searchLink><br /><searchLink fieldCode="AU" term="%22Reilly+MM%22">Reilly MM</searchLink><br /><searchLink fieldCode="AU" term="%22Rasic+VM%22">Rasic VM</searchLink><br /><searchLink fieldCode="AU" term="%22Jordanova+A%22">Jordanova A</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101767986%22">MedRxiv : the preprint server for health sciences</searchLink> [medRxiv] 2024 Jul 04. <i>Date of Electronic Publication: </i>2024 Jul 04. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Preprint – Name: TitleSource Label: Journal Info Group: Src Data: <i>Country of Publication: </i>United States <i>NLM ID: </i>101767986 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>NLM ISO Abbreviation: </i>medRxiv <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39006432 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1101/2024.07.03.24309787 Languages: – Code: eng Text: English Titles: – TitleFull: Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Armirola-Ricaurte C – PersonEntity: Name: NameFull: Morant L – PersonEntity: Name: NameFull: Adant I – PersonEntity: Name: NameFull: Hamed SA – PersonEntity: Name: NameFull: Pipis M – PersonEntity: Name: NameFull: Efthymiou S – PersonEntity: Name: NameFull: Amor-Barris S – PersonEntity: Name: NameFull: Atkinson D – PersonEntity: Name: NameFull: Van de Vondel L – PersonEntity: Name: NameFull: Tomic A – PersonEntity: Name: NameFull: de Vriendt E – PersonEntity: Name: NameFull: Zuchner S – PersonEntity: Name: NameFull: Ghesquiere B – PersonEntity: Name: NameFull: Hanna M – PersonEntity: Name: NameFull: Houlden H – PersonEntity: Name: NameFull: Lunn MP – PersonEntity: Name: NameFull: Reilly MM – PersonEntity: Name: NameFull: Rasic VM – PersonEntity: Name: NameFull: Jordanova A IsPartOfRelationships: – BibEntity: Dates: – D: 04 M: 07 Text: 2024 Jul 04 Type: published Y: 2024 Titles: – TitleFull: MedRxiv : the preprint server for health sciences Type: main |
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