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Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder.

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Title: Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder.
Authors: Pauly MG; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.; Department of Neurology, University Hospital Schleswig Holstein, 23562 Lübeck, Germany.; Institute of Systems Motor Science, University of Lübeck, 23562 Lübeck, Germany., Brüggemann N; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.; Department of Neurology, University Hospital Schleswig Holstein, 23562 Lübeck, Germany., Efthymiou S; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Grözinger A; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany., Diaw SH; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany., Chelban V; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Turchetti V; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Vona B; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, 37075 Göttingen, Germany.; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany., Tadic V; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.; Department of Neurology, University Hospital Schleswig Holstein, 23562 Lübeck, Germany., Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Münchau A; Institute of Systems Motor Science, University of Lübeck, 23562 Lübeck, Germany., Lohmann K; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.
Source: International journal of molecular sciences [Int J Mol Sci] 2023 Jan 18; Vol. 24 (3). Date of Electronic Publication: 2023 Jan 18.
Publication Type: Review; Journal Article
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder.
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  Data: <searchLink fieldCode="AU" term="%22Pauly+MG%22">Pauly MG</searchLink>; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.; Department of Neurology, University Hospital Schleswig Holstein, 23562 Lübeck, Germany.; Institute of Systems Motor Science, University of Lübeck, 23562 Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Brüggemann+N%22">Brüggemann N</searchLink>; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.; Department of Neurology, University Hospital Schleswig Holstein, 23562 Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Efthymiou+S%22">Efthymiou S</searchLink>; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Grözinger+A%22">Grözinger A</searchLink>; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Diaw+SH%22">Diaw SH</searchLink>; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Chelban+V%22">Chelban V</searchLink>; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Turchetti+V%22">Turchetti V</searchLink>; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Vona+B%22">Vona B</searchLink>; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, 37075 Göttingen, Germany.; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Tadic+V%22">Tadic V</searchLink>; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.; Department of Neurology, University Hospital Schleswig Holstein, 23562 Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Münchau+A%22">Münchau A</searchLink>; Institute of Systems Motor Science, University of Lübeck, 23562 Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Lohmann+K%22">Lohmann K</searchLink>; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.
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  Data: <searchLink fieldCode="JN" term="%22101092791%22">International journal of molecular sciences</searchLink> [Int J Mol Sci] 2023 Jan 18; Vol. 24 (3). <i>Date of Electronic Publication: </i>2023 Jan 18.
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