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Phenotypic and molecular characterization of a recurrent SPTAN1 mutation causing SPG91.

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Title: Phenotypic and molecular characterization of a recurrent SPTAN1 mutation causing SPG91.
Authors: Lan SC; School of Medicine, National Taiwan University College of Medicine, Taipei, Taiwan., Perng MD; Institute of Molecular Medicine, National Tsing Hua University, Hsinchu, Taiwan.; School of Medicine, College of Life Sciences and Medicine, National Tsing Hua University, Hsinchu, Taiwan., Chang YY; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan.; Center for Parkinson's Disease, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan., Chen YF; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan.; Center for Parkinson's Disease, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan., Lan MY; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan. myl@ksts.seed.net.tw.; Center for Parkinson's Disease, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan. myl@ksts.seed.net.tw.; Center for Mitochondrial Research and Medicine, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan. myl@ksts.seed.net.tw.
Source: Molecular biology reports [Mol Biol Rep] 2025 May 21; Vol. 52 (1), pp. 476. Date of Electronic Publication: 2025 May 21.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Phenotypic and molecular characterization of a recurrent SPTAN1 mutation causing SPG91.
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  Data: <searchLink fieldCode="AU" term="%22Lan+SC%22">Lan SC</searchLink>; School of Medicine, National Taiwan University College of Medicine, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Perng+MD%22">Perng MD</searchLink>; Institute of Molecular Medicine, National Tsing Hua University, Hsinchu, Taiwan.; School of Medicine, College of Life Sciences and Medicine, National Tsing Hua University, Hsinchu, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chang+YY%22">Chang YY</searchLink>; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan.; Center for Parkinson's Disease, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chen+YF%22">Chen YF</searchLink>; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan.; Center for Parkinson's Disease, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan.<br /><searchLink fieldCode="AU" term="%22Lan+MY%22">Lan MY</searchLink>; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan. myl@ksts.seed.net.tw.; Center for Parkinson's Disease, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan. myl@ksts.seed.net.tw.; Center for Mitochondrial Research and Medicine, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan. myl@ksts.seed.net.tw.
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  Data: <searchLink fieldCode="JN" term="%220403234%22">Molecular biology reports</searchLink> [Mol Biol Rep] 2025 May 21; Vol. 52 (1), pp. 476. <i>Date of Electronic Publication: </i>2025 May 21.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Reidel%22">Reidel </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>0403234 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1573-4978 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203014851%22">03014851 </searchLink><i>NLM ISO Abbreviation: </i>Mol Biol Rep <i>Subsets: </i>MEDLINE
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      – Type: doi
        Value: 10.1007/s11033-025-10582-4
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        Text: English
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      – TitleFull: Phenotypic and molecular characterization of a recurrent SPTAN1 mutation causing SPG91.
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            NameFull: Lan SC
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              Text: 2025 May 21
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              Value: 52
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