Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic-Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family".
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| Title: | Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic-Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family". |
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| Authors: | Pellerin D; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom.; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada., Iruzubieta P; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom.; Department of Neurology, Donostia University Hospital, San Sebastian, Spain.; Neuroscience Department, Biodonostia Health Research Institute, San Sebastian, Spain.; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), Madrid, Spain., Tekgül Ş; Department of Molecular Biology and Genetics, Koç University, School of Medicine, KUTTAM-NDAL, Istanbul, Turkey., Danzi MC; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA., Ashton C; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.; Department of Neurology, Royal Perth Hospital, Perth, Western Australia, Australia., Dicaire MJ; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada., Wandzel M; Laboratoire de Génétique Médicale, Hôpitaux de Brabois - CHRU de Nancy, Nancy, France., Roth V; Laboratoire de Génétique Médicale, Hôpitaux de Brabois - CHRU de Nancy, Nancy, France., Lamont PJ; Department of Neurology, Royal Perth Hospital, Perth, Western Australia, Australia., Bonnet C; Laboratoire de Génétique Médicale, Hôpitaux de Brabois - CHRU de Nancy, Nancy, France.; INSERM-U1256 NGERE, Université de Lorraine, Nancy, France., Renaud M; INSERM-U1256 NGERE, Université de Lorraine, Nancy, France.; Service de Neurologie, CHRU de Nancy, Nancy, France.; Service de Génétique Clinique, Hôpitaux de Brabois - CHRU de Nancy, Nancy, France., Synofzik M; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA., Brais B; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Centre de Réadaptation Lucie-Bruneau, Montreal, Quebec, Canada., Başak NA; Department of Molecular Biology and Genetics, Koç University, School of Medicine, KUTTAM-NDAL, Istanbul, Turkey., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom. |
| Source: | Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2023 Aug; Vol. 38 (8), pp. 1575-1577. |
| Publication Type: | Letter; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print 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: 37565404 AccessLevel: 2 PubType: Report PubTypeId: report PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic-Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family". – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Pellerin+D%22">Pellerin D</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom.; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Iruzubieta+P%22">Iruzubieta P</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom.; Department of Neurology, Donostia University Hospital, San Sebastian, Spain.; Neuroscience Department, Biodonostia Health Research Institute, San Sebastian, Spain.; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Tekgül+Ş%22">Tekgül Ş</searchLink>; Department of Molecular Biology and Genetics, Koç University, School of Medicine, KUTTAM-NDAL, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Danzi+MC%22">Danzi MC</searchLink>; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.<br /><searchLink fieldCode="AU" term="%22Ashton+C%22">Ashton C</searchLink>; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.; Department of Neurology, Royal Perth Hospital, Perth, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Dicaire+MJ%22">Dicaire MJ</searchLink>; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Wandzel+M%22">Wandzel M</searchLink>; Laboratoire de Génétique Médicale, Hôpitaux de Brabois - CHRU de Nancy, Nancy, France.<br /><searchLink fieldCode="AU" term="%22Roth+V%22">Roth V</searchLink>; Laboratoire de Génétique Médicale, Hôpitaux de Brabois - CHRU de Nancy, Nancy, France.<br /><searchLink fieldCode="AU" term="%22Lamont+PJ%22">Lamont PJ</searchLink>; Department of Neurology, Royal Perth Hospital, Perth, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Bonnet+C%22">Bonnet C</searchLink>; Laboratoire de Génétique Médicale, Hôpitaux de Brabois - CHRU de Nancy, Nancy, France.; INSERM-U1256 NGERE, Université de Lorraine, Nancy, France.<br /><searchLink fieldCode="AU" term="%22Renaud+M%22">Renaud M</searchLink>; INSERM-U1256 NGERE, Université de Lorraine, Nancy, France.; Service de Neurologie, CHRU de Nancy, Nancy, France.; Service de Génétique Clinique, Hôpitaux de Brabois - CHRU de Nancy, Nancy, France.<br /><searchLink fieldCode="AU" term="%22Synofzik+M%22">Synofzik M</searchLink>; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Zuchner+S%22">Zuchner S</searchLink>; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.<br /><searchLink fieldCode="AU" term="%22Brais+B%22">Brais B</searchLink>; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Centre de Réadaptation Lucie-Bruneau, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Başak+NA%22">Başak NA</searchLink>; Department of Molecular Biology and Genetics, Koç University, School of Medicine, KUTTAM-NDAL, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom. – 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] 2023 Aug; Vol. 38 (8), pp. 1575-1577. – Name: TypePub Label: Publication Type Group: TypPub Data: Letter; Research Support, Non-U.S. Gov't – 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 <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=37565404 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/mds.29552 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1575 Titles: – TitleFull: Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic-Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family". Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Pellerin D – PersonEntity: Name: NameFull: Iruzubieta P – PersonEntity: Name: NameFull: Tekgül Ş – PersonEntity: Name: NameFull: Danzi MC – PersonEntity: Name: NameFull: Ashton C – PersonEntity: Name: NameFull: Dicaire MJ – PersonEntity: Name: NameFull: Wandzel M – PersonEntity: Name: NameFull: Roth V – PersonEntity: Name: NameFull: Lamont PJ – PersonEntity: Name: NameFull: Bonnet C – PersonEntity: Name: NameFull: Renaud M – PersonEntity: Name: NameFull: Synofzik M – PersonEntity: Name: NameFull: Zuchner S – PersonEntity: Name: NameFull: Brais B – PersonEntity: Name: NameFull: Başak NA – PersonEntity: Name: NameFull: Houlden H IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 08 Text: 2023 Aug Type: published Y: 2023 Identifiers: – Type: issn-electronic Value: 1531-8257 Numbering: – Type: volume Value: 38 – Type: issue Value: 8 Titles: – TitleFull: Movement disorders : official journal of the Movement Disorder Society Type: main |
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