Illustration of a rare case of hereditary spastic paraplegia type 30 associated with a missense variant in the non-motor domain of KIF1A.
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| Title: | Illustration of a rare case of hereditary spastic paraplegia type 30 associated with a missense variant in the non-motor domain of KIF1A. |
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| Authors: | Onder H; Neurology Clinic, Diskapi Yildirim Beyazit Training and Research Hospital, Şehit Ömer Halisdemir Street. No: 20 Altındag, Ankara, 06110, Turkey. halilnder@yahoo.com., Vural A; Koc University School of Medicine, Koc University Research Center for Translational Medicine (KUTTAM), Istanbul, Turkey., Duzkale N; Department of Medical Genetics, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey., Kocer B; Neurology Clinic, Diskapi Yildirim Beyazit Training and Research Hospital, Şehit Ömer Halisdemir Street. No: 20 Altındag, Ankara, 06110, Turkey., Comoglu S; Neurology Clinic, Diskapi Yildirim Beyazit Training and Research Hospital, Şehit Ömer Halisdemir Street. No: 20 Altındag, Ankara, 06110, Turkey. |
| Source: | Journal of neurology [J Neurol] 2022 Jun; Vol. 269 (6), pp. 3343-3346. Date of Electronic Publication: 2022 Jan 09. |
| Publication Type: | Case Reports; Letter |
| Journal Info: | Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 34999958 AccessLevel: 2 PubType: Report PubTypeId: report PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Illustration of a rare case of hereditary spastic paraplegia type 30 associated with a missense variant in the non-motor domain of KIF1A. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Onder+H%22">Onder H</searchLink>; Neurology Clinic, Diskapi Yildirim Beyazit Training and Research Hospital, Şehit Ömer Halisdemir Street. No: 20 Altındag, Ankara, 06110, Turkey. halilnder@yahoo.com.<br /><searchLink fieldCode="AU" term="%22Vural+A%22">Vural A</searchLink>; Koc University School of Medicine, Koc University Research Center for Translational Medicine (KUTTAM), Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Duzkale+N%22">Duzkale N</searchLink>; Department of Medical Genetics, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Kocer+B%22">Kocer B</searchLink>; Neurology Clinic, Diskapi Yildirim Beyazit Training and Research Hospital, Şehit Ömer Halisdemir Street. No: 20 Altındag, Ankara, 06110, Turkey.<br /><searchLink fieldCode="AU" term="%22Comoglu+S%22">Comoglu S</searchLink>; Neurology Clinic, Diskapi Yildirim Beyazit Training and Research Hospital, Şehit Ömer Halisdemir Street. No: 20 Altındag, Ankara, 06110, Turkey. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220423161%22">Journal of neurology</searchLink> [J Neurol] 2022 Jun; Vol. 269 (6), pp. 3343-3346. <i>Date of Electronic Publication: </i>2022 Jan 09. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Letter – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer-Verlag%22">Springer-Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>0423161 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1459 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203405354%22">03405354 </searchLink><i>NLM ISO Abbreviation: </i>J Neurol <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=34999958 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s00415-021-10924-9 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 3343 Titles: – TitleFull: Illustration of a rare case of hereditary spastic paraplegia type 30 associated with a missense variant in the non-motor domain of KIF1A. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Onder H – PersonEntity: Name: NameFull: Vural A – PersonEntity: Name: NameFull: Duzkale N – PersonEntity: Name: NameFull: Kocer B – PersonEntity: Name: NameFull: Comoglu S IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 06 Text: 2022 Jun Type: published Y: 2022 Identifiers: – Type: issn-electronic Value: 1432-1459 Numbering: – Type: volume Value: 269 – Type: issue Value: 6 Titles: – TitleFull: Journal of neurology Type: main |
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