CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia.
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| Title: | CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia. |
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| Authors: | Delle Vedove A; Institute of Human Genetics, University Hospital of Cologne, University Cologne, 50931, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, 50931, Cologne, Germany.; Institute for Genetics, University of Cologne, 50674, Cologne, Germany., Natarajan J; Center for Molecular and Cellular Bioengineering, Biotechnology Center, Technische Universität Dresden, 01307, Dresden, Germany., Zanni G; Genetics and Rare Diseases Research Division and Unit of Muscular and Neurodegenerative Disorders - the Department of Neurosciences of the Bambino Gesù Childrens' Hospital, IRCCS, Rome, Italy., Eckenweiler M; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center-University of Freiburg, University of Freiburg, 79106, Freiburg, Germany., Muiños-Bühl A; Institute of Human Genetics, University Hospital of Cologne, University Cologne, 50931, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, 50931, Cologne, Germany.; Institute for Genetics, University of Cologne, 50674, Cologne, Germany., Storbeck M; Institute of Human Genetics, University Hospital of Cologne, University Cologne, 50931, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, 50931, Cologne, Germany.; Institute for Genetics, University of Cologne, 50674, Cologne, Germany., Guillén Boixet J; Center for Molecular and Cellular Bioengineering, Biotechnology Center, Technische Universität Dresden, 01307, Dresden, Germany., Barresi S; Genetics and Rare Diseases Research Division and Unit of Muscular and Neurodegenerative Disorders - the Department of Neurosciences of the Bambino Gesù Childrens' Hospital, IRCCS, Rome, Italy., Pizzi S; Genetics and Rare Diseases Research Division and Unit of Muscular and Neurodegenerative Disorders - the Department of Neurosciences of the Bambino Gesù Childrens' Hospital, IRCCS, Rome, Italy., Hölker I; Institute of Human Genetics, University Hospital of Cologne, University Cologne, 50931, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, 50931, Cologne, Germany.; Institute for Genetics, University of Cologne, 50674, Cologne, Germany., Körber F; Institute of Diagnostic and Interventional Radiology, 50937, Cologne, Germany., Franzmann TM; Center for Molecular and Cellular Bioengineering, Biotechnology Center, Technische Universität Dresden, 01307, Dresden, Germany., Bertini ES; Genetics and Rare Diseases Research Division and Unit of Muscular and Neurodegenerative Disorders - the Department of Neurosciences of the Bambino Gesù Childrens' Hospital, IRCCS, Rome, Italy., Kirschner J; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center-University of Freiburg, University of Freiburg, 79106, Freiburg, Germany., Alberti S; Center for Molecular and Cellular Bioengineering, Biotechnology Center, Technische Universität Dresden, 01307, Dresden, Germany., Tartaglia M; Genetics and Rare Diseases Research Division and Unit of Muscular and Neurodegenerative Disorders - the Department of Neurosciences of the Bambino Gesù Childrens' Hospital, IRCCS, Rome, Italy., Wirth B; Institute of Human Genetics, University Hospital of Cologne, University Cologne, 50931, Cologne, Germany. brunhilde.wirth@uk-koeln.de.; Center for Molecular Medicine Cologne, University of Cologne, 50931, Cologne, Germany. brunhilde.wirth@uk-koeln.de.; Institute for Genetics, University of Cologne, 50674, Cologne, Germany. brunhilde.wirth@uk-koeln.de.; Center for Rare Diseases, University Hospital of Cologne, 50931, Cologne, Germany. brunhilde.wirth@uk-koeln.de. |
| Source: | Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2022 Sep 22; Vol. 79 (10), pp. 526. Date of Electronic Publication: 2022 Sep 22. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Springer Country of Publication: Switzerland NLM ID: 9705402 Publication Model: Electronic Cited Medium: Internet ISSN: 1420-9071 (Electronic) Linking ISSN: 1420682X NLM ISO Abbreviation: Cell Mol Life Sci Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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