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The Diverse Neuromuscular Spectrum of VPS13A Disease.

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Title: The Diverse Neuromuscular Spectrum of VPS13A Disease.
Authors: Buchberger A; Department of Neurology, University Hospital rechts der Isar, TUM School of Medicine and Health, Technical University of Munich, Munich, Germany., Riedel E; Department of Neuroradiology, University Hospital rechts der Isar, TUM School of Medicine and Health, Technical University of Munich, Munich, Germany., Hackenberg M; Department of Neurology, University Hospital rechts der Isar, TUM School of Medicine and Health, Technical University of Munich, Munich, Germany., Mensch A; Department of Neurology, Martin Luther University Halle-Wittenberg and University Hospital Halle, Halle (Saale), Germany., Beck-Woedl S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Park J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Institute of Human Genetics, University Hospital rechts der Isar, TUM School of Medicine and Health, Technical University of Munich, Munich, Germany.; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE), Tübingen, Germany., Haslinger B; Department of Neurology, University Hospital rechts der Isar, TUM School of Medicine and Health, Technical University of Munich, Munich, Germany., Kirschke J; Department of Neuroradiology, University Hospital rechts der Isar, TUM School of Medicine and Health, Technical University of Munich, Munich, Germany., Prokisch H; Institute of Human Genetics, University Hospital rechts der Isar, TUM School of Medicine and Health, Technical University of Munich, Munich, Germany., Hermann A; Translational Neurodegeneration Section 'Albrecht Kossel', Department of Neurology, University Medical Center Rostock, University of Rostock, Rostock, Germany.; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, University of Rostock, Rostock, Germany.; German Center for Neurodegenerative Diseases (Deutsches Zentrum für Neurodegenerative Erkrankungen-DZNE), Rostock, Germany.; United Neuroscience Campus (UNC) Lund - Rostock, Rostock, Germany., Mawrin C; Department of Neuropathology, University of Magdeburg, Magdeburg, Germany., Danek A; Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany., Schoser B; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany., Peikert K; Translational Neurodegeneration Section 'Albrecht Kossel', Department of Neurology, University Medical Center Rostock, University of Rostock, Rostock, Germany.; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, University of Rostock, Rostock, Germany.; United Neuroscience Campus (UNC) Lund - Rostock, Rostock, Germany., Deschauer M; Department of Neurology, University Hospital rechts der Isar, TUM School of Medicine and Health, Technical University of Munich, Munich, Germany., Cordts I; Department of Neurology, University Hospital rechts der Isar, TUM School of Medicine and Health, Technical University of Munich, Munich, Germany.
Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2026 Jan; Vol. 13 (1), pp. 157-169. Date of Electronic Publication: 2025 Oct 01.
Publication Type: Journal Article
Journal Info: Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: The Diverse Neuromuscular Spectrum of VPS13A Disease.
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  Data: <searchLink fieldCode="AU" term="%22Buchberger+A%22">Buchberger A</searchLink>; Department of Neurology, University Hospital rechts der Isar, TUM School of Medicine and Health, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Riedel+E%22">Riedel E</searchLink>; Department of Neuroradiology, University Hospital rechts der Isar, TUM School of Medicine and Health, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Hackenberg+M%22">Hackenberg M</searchLink>; Department of Neurology, University Hospital rechts der Isar, TUM School of Medicine and Health, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Mensch+A%22">Mensch A</searchLink>; Department of Neurology, Martin Luther University Halle-Wittenberg and University Hospital Halle, Halle (Saale), Germany.<br /><searchLink fieldCode="AU" term="%22Beck-Woedl+S%22">Beck-Woedl S</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Park+J%22">Park J</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Haack+TB%22">Haack TB</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Institute of Human Genetics, University Hospital rechts der Isar, TUM School of Medicine and Health, Technical University of Munich, Munich, Germany.; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Haslinger+B%22">Haslinger B</searchLink>; Department of Neurology, University Hospital rechts der Isar, TUM School of Medicine and Health, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Kirschke+J%22">Kirschke J</searchLink>; Department of Neuroradiology, University Hospital rechts der Isar, TUM School of Medicine and Health, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Prokisch+H%22">Prokisch H</searchLink>; Institute of Human Genetics, University Hospital rechts der Isar, TUM School of Medicine and Health, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Hermann+A%22">Hermann A</searchLink>; Translational Neurodegeneration Section 'Albrecht Kossel', Department of Neurology, University Medical Center Rostock, University of Rostock, Rostock, Germany.; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, University of Rostock, Rostock, Germany.; German Center for Neurodegenerative Diseases (Deutsches Zentrum für Neurodegenerative Erkrankungen-DZNE), Rostock, Germany.; United Neuroscience Campus (UNC) Lund - Rostock, Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Mawrin+C%22">Mawrin C</searchLink>; Department of Neuropathology, University of Magdeburg, Magdeburg, Germany.<br /><searchLink fieldCode="AU" term="%22Danek+A%22">Danek A</searchLink>; Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Schoser+B%22">Schoser B</searchLink>; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Peikert+K%22">Peikert K</searchLink>; Translational Neurodegeneration Section 'Albrecht Kossel', Department of Neurology, University Medical Center Rostock, University of Rostock, Rostock, Germany.; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, University of Rostock, Rostock, Germany.; United Neuroscience Campus (UNC) Lund - Rostock, Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Deschauer+M%22">Deschauer M</searchLink>; Department of Neurology, University Hospital rechts der Isar, TUM School of Medicine and Health, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Cordts+I%22">Cordts I</searchLink>; Department of Neurology, University Hospital rechts der Isar, TUM School of Medicine and Health, Technical University of Munich, Munich, Germany.
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