A Novel TUBB2A Variant Causing Ataxia With Preserved Ambulation Into Adulthood.
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| Title: | A Novel TUBB2A Variant Causing Ataxia With Preserved Ambulation Into Adulthood. |
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| Authors: | da Costa Urbano JC; Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil., da Silva Júnior SRP; Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil., Castro MAA; Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil., Nóbrega PR; Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil.; Department of Clinical Medicine, Universidade Federal Do Ceará, Fotaleza, Ceará, Brazil., de Vasconcelos JTM; Hospital Beneficência Portuguesa de São Paulo, São Paulo, São Paulo, Brazil., Lucato LT; Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil., Kok F; Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil., Freua F; Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2026 Apr 28. Date of Electronic Publication: 2026 Apr 28. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42050746 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A Novel TUBB2A Variant Causing Ataxia With Preserved Ambulation Into Adulthood. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22da+Costa+Urbano+JC%22">da Costa Urbano JC</searchLink>; Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22da+Silva+Júnior+SRP%22">da Silva Júnior SRP</searchLink>; Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Castro+MAA%22">Castro MAA</searchLink>; Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Nóbrega+PR%22">Nóbrega PR</searchLink>; Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil.; Department of Clinical Medicine, Universidade Federal Do Ceará, Fotaleza, Ceará, Brazil.<br /><searchLink fieldCode="AU" term="%22de+Vasconcelos+JTM%22">de Vasconcelos JTM</searchLink>; Hospital Beneficência Portuguesa de São Paulo, São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Lucato+LT%22">Lucato LT</searchLink>; Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Kok+F%22">Kok F</searchLink>; Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Freua+F%22">Freua F</searchLink>; Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2026 Apr 28. <i>Date of Electronic Publication: </i>2026 Apr 28. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42050746 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.70183 Languages: – Code: eng Text: English Titles: – TitleFull: A Novel TUBB2A Variant Causing Ataxia With Preserved Ambulation Into Adulthood. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: da Costa Urbano JC – PersonEntity: Name: NameFull: da Silva Júnior SRP – PersonEntity: Name: NameFull: Castro MAA – PersonEntity: Name: NameFull: Nóbrega PR – PersonEntity: Name: NameFull: de Vasconcelos JTM – PersonEntity: Name: NameFull: Lucato LT – PersonEntity: Name: NameFull: Kok F – PersonEntity: Name: NameFull: Freua F IsPartOfRelationships: – BibEntity: Dates: – D: 28 M: 04 Text: 2026 Apr 28 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1552-4833 Titles: – TitleFull: American journal of medical genetics. Part A Type: main |
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