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Intrafamilial Phenotypic Variation in Taiwanese Patients with Hereditary Spastic Paraplegia and Charcot-Marie-Tooth Disease Due to KIF5A Mutations: A Cross-Sectional Observational Study.

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Title: Intrafamilial Phenotypic Variation in Taiwanese Patients with Hereditary Spastic Paraplegia and Charcot-Marie-Tooth Disease Due to KIF5A Mutations: A Cross-Sectional Observational Study.
Authors: Lin PY; Department of Neurology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.; Department of Genomic Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Hsiao CT; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.; Department of Neurology, National Yang Ming Chao Tung University School of Medicine, Taipei, Taiwan., Huang HW; Department of Neurology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Wu YJ; Department of Neurology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Fu SJ; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan., Lee YC; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.; Department of Neurology, National Yang Ming Chao Tung University School of Medicine, Taipei, Taiwan.; Brain Research Center, National Yang Ming Chao Tung University School of Medicine, Taipei, Taiwan.; Center for Intelligent Drug Systems and Smart Bio-Devices, National Yang Ming Chiao Tung University, Hsinchu, Taiwan.
Source: Acta neurologica Taiwanica [Acta Neurol Taiwan] 2026 Jan 01; Vol. 35 (1), pp. 30-35. Date of Electronic Publication: 2025 Jun 11.
Publication Type: Journal Article; Observational Study
Journal Info: Publisher: Wolters Kluwer - Medknow Country of Publication: India NLM ID: 9815355 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1028-768X (Print) Linking ISSN: 1028768X NLM ISO Abbreviation: Acta Neurol Taiwan Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Intrafamilial Phenotypic Variation in Taiwanese Patients with Hereditary Spastic Paraplegia and Charcot-Marie-Tooth Disease Due to KIF5A Mutations: A Cross-Sectional Observational Study.
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  Data: <searchLink fieldCode="AU" term="%22Lin+PY%22">Lin PY</searchLink>; Department of Neurology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.; Department of Genomic Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.<br /><searchLink fieldCode="AU" term="%22Hsiao+CT%22">Hsiao CT</searchLink>; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.; Department of Neurology, National Yang Ming Chao Tung University School of Medicine, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Huang+HW%22">Huang HW</searchLink>; Department of Neurology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.<br /><searchLink fieldCode="AU" term="%22Wu+YJ%22">Wu YJ</searchLink>; Department of Neurology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.<br /><searchLink fieldCode="AU" term="%22Fu+SJ%22">Fu SJ</searchLink>; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Lee+YC%22">Lee YC</searchLink>; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.; Department of Neurology, National Yang Ming Chao Tung University School of Medicine, Taipei, Taiwan.; Brain Research Center, National Yang Ming Chao Tung University School of Medicine, Taipei, Taiwan.; Center for Intelligent Drug Systems and Smart Bio-Devices, National Yang Ming Chiao Tung University, Hsinchu, Taiwan.
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  Data: <searchLink fieldCode="JN" term="%229815355%22">Acta neurologica Taiwanica</searchLink> [Acta Neurol Taiwan] 2026 Jan 01; Vol. 35 (1), pp. 30-35. <i>Date of Electronic Publication: </i>2025 Jun 11.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wolters+Kluwer+-+Medknow%22">Wolters Kluwer - Medknow </searchLink><i>Country of Publication: </i>India <i>NLM ID: </i>9815355 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>1028-768X (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%221028768X%22">1028768X </searchLink><i>NLM ISO Abbreviation: </i>Acta Neurol Taiwan <i>Subsets: </i>MEDLINE
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        Value: 10.4103/ant.ANT-D-25-00042
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      – TitleFull: Intrafamilial Phenotypic Variation in Taiwanese Patients with Hereditary Spastic Paraplegia and Charcot-Marie-Tooth Disease Due to KIF5A Mutations: A Cross-Sectional Observational Study.
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              Text: 2026 Jan 01
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