A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder.
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| Title: | A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder. |
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| 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 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 38973070 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| 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 |
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