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Novel COL4A1 missense variant in a case of juvenile stroke.

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Title: Novel COL4A1 missense variant in a case of juvenile stroke.
Authors: Kretz A; Department of Neurology, Jena University Hospital, 07747 Jena, Germany. Electronic address: alexandra.kretz@med.uni-jena.de., Arbeiter M; Neurological Clinic Fürth, 90766 Fürth, Germany., Strobel J; Department of Transfusion Medicine and Hemostaseology, University Hospital Erlangen, 91054 Erlangen, Germany., Blum K; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Frischholz B; Department of Transfusion Medicine and Hemostaseology, University Hospital Erlangen, 91054 Erlangen, Germany., Rödiger A; Department of Neurology, Jena University Hospital, 07747 Jena, Germany; Centre for Rare Diseases (ZSE), Jena University Hospital, 07747 Jena, Germany., Hackstein H; Department of Transfusion Medicine and Hemostaseology, University Hospital Erlangen, 91054 Erlangen, Germany., Maihöfner C; Neurological Clinic Fürth, 90766 Fürth, Germany., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Universitätsklinikum Erlangen, 91054 Erlangen, Germany., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Universitätsklinikum Erlangen, 91054 Erlangen, Germany., Schwab M; Department of Neurology, Jena University Hospital, 07747 Jena, Germany.
Source: Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association [J Stroke Cerebrovasc Dis] 2025 Dec; Vol. 34 (12), pp. 108463. Date of Electronic Publication: 2025 Oct 04.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Saunders Country of Publication: United States NLM ID: 9111633 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-8511 (Electronic) Linking ISSN: 10523057 NLM ISO Abbreviation: J Stroke Cerebrovasc Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Novel COL4A1 missense variant in a case of juvenile stroke.
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  Data: <searchLink fieldCode="AU" term="%22Kretz+A%22">Kretz A</searchLink>; Department of Neurology, Jena University Hospital, 07747 Jena, Germany. Electronic address: alexandra.kretz@med.uni-jena.de.<br /><searchLink fieldCode="AU" term="%22Arbeiter+M%22">Arbeiter M</searchLink>; Neurological Clinic Fürth, 90766 Fürth, Germany.<br /><searchLink fieldCode="AU" term="%22Strobel+J%22">Strobel J</searchLink>; Department of Transfusion Medicine and Hemostaseology, University Hospital Erlangen, 91054 Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Blum+K%22">Blum K</searchLink>; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Frischholz+B%22">Frischholz B</searchLink>; Department of Transfusion Medicine and Hemostaseology, University Hospital Erlangen, 91054 Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Rödiger+A%22">Rödiger A</searchLink>; Department of Neurology, Jena University Hospital, 07747 Jena, Germany; Centre for Rare Diseases (ZSE), Jena University Hospital, 07747 Jena, Germany.<br /><searchLink fieldCode="AU" term="%22Hackstein+H%22">Hackstein H</searchLink>; Department of Transfusion Medicine and Hemostaseology, University Hospital Erlangen, 91054 Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Maihöfner+C%22">Maihöfner C</searchLink>; Neurological Clinic Fürth, 90766 Fürth, Germany.<br /><searchLink fieldCode="AU" term="%22Reis+A%22">Reis A</searchLink>; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Universitätsklinikum Erlangen, 91054 Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Vasileiou+G%22">Vasileiou G</searchLink>; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Universitätsklinikum Erlangen, 91054 Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Schwab+M%22">Schwab M</searchLink>; Department of Neurology, Jena University Hospital, 07747 Jena, Germany.
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  Data: <searchLink fieldCode="JN" term="%229111633%22">Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association</searchLink> [J Stroke Cerebrovasc Dis] 2025 Dec; Vol. 34 (12), pp. 108463. <i>Date of Electronic Publication: </i>2025 Oct 04.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Saunders%22">Saunders </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9111633 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1532-8511 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210523057%22">10523057 </searchLink><i>NLM ISO Abbreviation: </i>J Stroke Cerebrovasc Dis <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.jstrokecerebrovasdis.2025.108463
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              M: 12
              Text: 2025 Dec
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              Y: 2025
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