Spinocerebellar Ataxia 27 A with Episodic Ataxia: Case Series of Fibroblast Growth Factor 14 (FGF14) Microdeletions.
Saved in:
| Title: | Spinocerebellar Ataxia 27 A with Episodic Ataxia: Case Series of Fibroblast Growth Factor 14 (FGF14) Microdeletions. |
|---|---|
| Authors: | Conci E; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Department of Neurology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Kelly TL; School of Clinical Medicine, University of Cambridge, Cambridge, UK., Armstrong R; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Harijan P; Department of Paediatric Neurology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK. rh732@medschl.cam.ac.uk.; Department of Clinical Neurosciences, John van Geest Centre for Brain Repair, Forvie Site, Robinson Way, Cambridge, CB2 0PY, UK. rh732@medschl.cam.ac.uk. |
| Source: | Cerebellum (London, England) [Cerebellum] 2025 Oct 16; Vol. 24 (6), pp. 166. Date of Electronic Publication: 2025 Oct 16. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Electronic Cited Medium: Internet ISSN: 1473-4230 (Electronic) Linking ISSN: 14734222 NLM ISO Abbreviation: Cerebellum Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
|---|---|
| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41099962 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: Spinocerebellar Ataxia 27 A with Episodic Ataxia: Case Series of Fibroblast Growth Factor 14 (FGF14) Microdeletions. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Conci+E%22">Conci E</searchLink>; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Department of Neurology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Kelly+TL%22">Kelly TL</searchLink>; School of Clinical Medicine, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Armstrong+R%22">Armstrong R</searchLink>; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Harijan+P%22">Harijan P</searchLink>; Department of Paediatric Neurology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Horvath+R%22">Horvath R</searchLink>; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK. rh732@medschl.cam.ac.uk.; Department of Clinical Neurosciences, John van Geest Centre for Brain Repair, Forvie Site, Robinson Way, Cambridge, CB2 0PY, UK. rh732@medschl.cam.ac.uk. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101089443%22">Cerebellum (London, England)</searchLink> [Cerebellum] 2025 Oct 16; Vol. 24 (6), pp. 166. <i>Date of Electronic Publication: </i>2025 Oct 16. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Case Reports – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer%22">Springer </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101089443 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1473-4230 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214734222%22">14734222 </searchLink><i>NLM ISO Abbreviation: </i>Cerebellum <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41099962 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s12311-025-01919-7 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 166 Titles: – TitleFull: Spinocerebellar Ataxia 27 A with Episodic Ataxia: Case Series of Fibroblast Growth Factor 14 (FGF14) Microdeletions. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Conci E – PersonEntity: Name: NameFull: Kelly TL – PersonEntity: Name: NameFull: Armstrong R – PersonEntity: Name: NameFull: Harijan P – PersonEntity: Name: NameFull: Horvath R IsPartOfRelationships: – BibEntity: Dates: – D: 16 M: 10 Text: 2025 Oct 16 Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1473-4230 Numbering: – Type: volume Value: 24 – Type: issue Value: 6 Titles: – TitleFull: Cerebellum (London, England) Type: main |
| ResultId | 1 |