A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder.

Saved in:
Bibliographic Details
Title: A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder.
Authors: van Prooije TH; Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Pennings M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Dorresteijn L; Department of Neurology, Medisch Spectrum Twente, Enschede, the Netherlands., Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Odekerken VJJ; Department of Neurology, Amsterdam UMC, Amsterdam, the Netherlands., Oosterloo M; Department of Neurology, School for Mental Health and Neuroscience, Maastricht University Medical Center, Maastricht, the Netherlands., Pedersen A; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden., Verschuuren-Bemelmans CC; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Vrancken A; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., van de Warrenburg BPC; Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Sep; Vol. 39 (9), pp. 1636-1640. Date of Electronic Publication: 2024 Jul 07.
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord 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: 38973070
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22van+Prooije+TH%22">van Prooije TH</searchLink>; Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Pennings+M%22">Pennings M</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Dorresteijn+L%22">Dorresteijn L</searchLink>; Department of Neurology, Medisch Spectrum Twente, Enschede, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Gardeitchik+T%22">Gardeitchik T</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Odekerken+VJJ%22">Odekerken VJJ</searchLink>; Department of Neurology, Amsterdam UMC, Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Oosterloo+M%22">Oosterloo M</searchLink>; Department of Neurology, School for Mental Health and Neuroscience, Maastricht University Medical Center, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Pedersen+A%22">Pedersen A</searchLink>; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.<br /><searchLink fieldCode="AU" term="%22Verschuuren-Bemelmans+CC%22">Verschuuren-Bemelmans CC</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Vrancken+A%22">Vrancken A</searchLink>; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Kamsteeg+EJ%22">Kamsteeg EJ</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+de+Warrenburg+BPC%22">van de Warrenburg BPC</searchLink>; Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%228610688%22">Movement disorders : official journal of the Movement Disorder Society</searchLink> [Mov Disord] 2024 Sep; Vol. 39 (9), pp. 1636-1640. <i>Date of Electronic Publication: </i>2024 Jul 07.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>8610688 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1531-8257 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2208853185%22">08853185 </searchLink><i>NLM ISO Abbreviation: </i>Mov Disord <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=38973070
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/mds.29912
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 1636
    Titles:
      – TitleFull: A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: van Prooije TH
      – PersonEntity:
          Name:
            NameFull: Pennings M
      – PersonEntity:
          Name:
            NameFull: Dorresteijn L
      – PersonEntity:
          Name:
            NameFull: Gardeitchik T
      – PersonEntity:
          Name:
            NameFull: Odekerken VJJ
      – PersonEntity:
          Name:
            NameFull: Oosterloo M
      – PersonEntity:
          Name:
            NameFull: Pedersen A
      – PersonEntity:
          Name:
            NameFull: Verschuuren-Bemelmans CC
      – PersonEntity:
          Name:
            NameFull: Vrancken A
      – PersonEntity:
          Name:
            NameFull: Kamsteeg EJ
      – PersonEntity:
          Name:
            NameFull: van de Warrenburg BPC
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 09
              Text: 2024 Sep
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 1531-8257
          Numbering:
            – Type: volume
              Value: 39
            – Type: issue
              Value: 9
          Titles:
            – TitleFull: Movement disorders : official journal of the Movement Disorder Society
              Type: main
ResultId 1