View in EDS HTML Full Text PDF Full Text

Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn.

Saved in:
Bibliographic Details
Title: Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn.
Authors: Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Novis LE; Neurological Diseases Group, Postgraduate Program of Internal Medicine, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil., Koutsis G; Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece., Koniari C; Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Turchetti V; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Velonakis G; 2nd Department of Radiology, Medical School, Attikon Hospital, National and Kapodistrian University of Athens, Athens, Greece., Vasconcellos LF; Institute of Neurology, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil., Raskin S; Genetika Laboratoty, Curitiba, Paraná, Brazil., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Arun YB; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Kinhal UV; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Teive HAG; Neurological Diseases Group, Postgraduate Program of Internal Medicine, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 Oct; Vol. 10 (10), pp. 1910-1916. Date of Electronic Publication: 2023 Aug 08.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 37553803
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Efthymiou+S%22">Efthymiou S</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Novis+LE%22">Novis LE</searchLink>; Neurological Diseases Group, Postgraduate Program of Internal Medicine, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil.<br /><searchLink fieldCode="AU" term="%22Koutsis+G%22">Koutsis G</searchLink>; Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Koniari+C%22">Koniari C</searchLink>; Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Maroofian+R%22">Maroofian R</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Turchetti+V%22">Turchetti V</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Velonakis+G%22">Velonakis G</searchLink>; 2nd Department of Radiology, Medical School, Attikon Hospital, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Vasconcellos+LF%22">Vasconcellos LF</searchLink>; Institute of Neurology, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.<br /><searchLink fieldCode="AU" term="%22Raskin+S%22">Raskin S</searchLink>; Genetika Laboratoty, Curitiba, Paraná, Brazil.<br /><searchLink fieldCode="AU" term="%22Srinivasan+VM%22">Srinivasan VM</searchLink>; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Pagnamenta+AT%22">Pagnamenta AT</searchLink>; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Arun+YB%22">Arun YB</searchLink>; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Kinhal+UV%22">Kinhal UV</searchLink>; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Gowda+VK%22">Gowda VK</searchLink>; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Teive+HAG%22">Teive HAG</searchLink>; Neurological Diseases Group, Postgraduate Program of Internal Medicine, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101623278%22">Annals of clinical and translational neurology</searchLink> [Ann Clin Transl Neurol] 2023 Oct; Vol. 10 (10), pp. 1910-1916. <i>Date of Electronic Publication: </i>2023 Aug 08.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, Non-U.S. Gov't
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley+Periodicals%2C+Inc+on+behalf+of+American+Neurological+Association%22">Wiley Periodicals, Inc on behalf of American Neurological Association </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101623278 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2328-9503 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2223289503%22">23289503 </searchLink><i>NLM ISO Abbreviation: </i>Ann Clin Transl Neurol <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=37553803
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/acn3.51874
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 1910
    Titles:
      – TitleFull: Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Efthymiou S
      – PersonEntity:
          Name:
            NameFull: Novis LE
      – PersonEntity:
          Name:
            NameFull: Koutsis G
      – PersonEntity:
          Name:
            NameFull: Koniari C
      – PersonEntity:
          Name:
            NameFull: Maroofian R
      – PersonEntity:
          Name:
            NameFull: Turchetti V
      – PersonEntity:
          Name:
            NameFull: Velonakis G
      – PersonEntity:
          Name:
            NameFull: Vasconcellos LF
      – PersonEntity:
          Name:
            NameFull: Raskin S
      – PersonEntity:
          Name:
            NameFull: Srinivasan VM
      – PersonEntity:
          Name:
            NameFull: Pagnamenta AT
      – PersonEntity:
          Name:
            NameFull: Arun YB
      – PersonEntity:
          Name:
            NameFull: Kinhal UV
      – PersonEntity:
          Name:
            NameFull: Gowda VK
      – PersonEntity:
          Name:
            NameFull: Teive HAG
      – PersonEntity:
          Name:
            NameFull: Houlden H
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 10
              Text: 2023 Oct
              Type: published
              Y: 2023
          Identifiers:
            – Type: issn-electronic
              Value: 2328-9503
          Numbering:
            – Type: volume
              Value: 10
            – Type: issue
              Value: 10
          Titles:
            – TitleFull: Annals of clinical and translational neurology
              Type: main
ResultId 1