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A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family.

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Title: A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family.
Authors: Akram R; Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad 38000, Pakistan.; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Anwar H; Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad 38000, Pakistan., Muzaffar H; Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad 38000, Pakistan., Turchetti V; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Lau T; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Vona B; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, 37075 Göttingen, Germany., Makhdoom EUH; Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad 38000, Pakistan.; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, Faisalabad 38000, Pakistan., Iqbal J; Department of Neurology, Allied Hospital, Faisalabad Medical University, Faisalabad 38000, Pakistan., Mahmood Baig S; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, Faisalabad 38000, Pakistan.; Department of Biological and Biomedical Sciences, Aga Khan University, Stadium Road, Karachi 74000, Pakistan., Hussain G; Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad 38000, Pakistan., Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Source: Genes [Genes (Basel)] 2024 Sep 13; Vol. 15 (9). Date of Electronic Publication: 2024 Sep 13.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family.
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  Data: <searchLink fieldCode="AU" term="%22Akram+R%22">Akram R</searchLink>; Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad 38000, Pakistan.; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Anwar+H%22">Anwar H</searchLink>; Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad 38000, Pakistan.<br /><searchLink fieldCode="AU" term="%22Muzaffar+H%22">Muzaffar H</searchLink>; Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad 38000, Pakistan.<br /><searchLink fieldCode="AU" term="%22Turchetti+V%22">Turchetti V</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Lau+T%22">Lau T</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Vona+B%22">Vona B</searchLink>; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, 37075 Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Makhdoom+EUH%22">Makhdoom EUH</searchLink>; Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad 38000, Pakistan.; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, Faisalabad 38000, Pakistan.<br /><searchLink fieldCode="AU" term="%22Iqbal+J%22">Iqbal J</searchLink>; Department of Neurology, Allied Hospital, Faisalabad Medical University, Faisalabad 38000, Pakistan.<br /><searchLink fieldCode="AU" term="%22Mahmood+Baig+S%22">Mahmood Baig S</searchLink>; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, Faisalabad 38000, Pakistan.; Department of Biological and Biomedical Sciences, Aga Khan University, Stadium Road, Karachi 74000, Pakistan.<br /><searchLink fieldCode="AU" term="%22Hussain+G%22">Hussain G</searchLink>; Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad 38000, Pakistan.<br /><searchLink fieldCode="AU" term="%22Efthymiou+S%22">Efthymiou S</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
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  Data: <searchLink fieldCode="JN" term="%22101551097%22">Genes</searchLink> [Genes (Basel)] 2024 Sep 13; Vol. 15 (9). <i>Date of Electronic Publication: </i>2024 Sep 13.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI%22">MDPI </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101551097 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2073-4425 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220734425%22">20734425 </searchLink><i>NLM ISO Abbreviation: </i>Genes (Basel) <i>Subsets: </i>MEDLINE
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              Text: 2024 Sep 13
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