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Adult-onset Sandhoff disease presenting with a motor neuron disease phenotype: clinical and mechanistic insights from patient-derived models.

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Title: Adult-onset Sandhoff disease presenting with a motor neuron disease phenotype: clinical and mechanistic insights from patient-derived models.
Authors: Tang Y; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China., Shan D; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China., Wang H; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China., Ji X; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China., Jiao Y; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China., Li J; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China., Zhan Z; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China., Liu S; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China.; School of Nursing and Rehabilitation, Cheeloo College of Medicine, Shandong University, Jinan, 250012, Shandong, China., Sun X; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China., Lin P; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China., Xu J; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China., Wang D; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China., Sun X; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China., Yan C; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China., Zhao Y; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China. zyy72@126.com., Liu F; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China. fuchen.liu@email.sdu.edu.cn.
Source: Acta neuropathologica communications [Acta Neuropathol Commun] 2026 May 05; Vol. 14 (1). Date of Electronic Publication: 2026 May 05.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101610673 Publication Model: Electronic Cited Medium: Internet ISSN: 2051-5960 (Electronic) Linking ISSN: 20515960 NLM ISO Abbreviation: Acta Neuropathol Commun Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Adult-onset Sandhoff disease presenting with a motor neuron disease phenotype: clinical and mechanistic insights from patient-derived models.
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  Data: <searchLink fieldCode="AU" term="%22Tang+Y%22">Tang Y</searchLink>; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China.<br /><searchLink fieldCode="AU" term="%22Shan+D%22">Shan D</searchLink>; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China.<br /><searchLink fieldCode="AU" term="%22Wang+H%22">Wang H</searchLink>; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China.<br /><searchLink fieldCode="AU" term="%22Ji+X%22">Ji X</searchLink>; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China.<br /><searchLink fieldCode="AU" term="%22Jiao+Y%22">Jiao Y</searchLink>; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China.<br /><searchLink fieldCode="AU" term="%22Li+J%22">Li J</searchLink>; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China.<br /><searchLink fieldCode="AU" term="%22Zhan+Z%22">Zhan Z</searchLink>; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China.<br /><searchLink fieldCode="AU" term="%22Liu+S%22">Liu S</searchLink>; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China.; School of Nursing and Rehabilitation, Cheeloo College of Medicine, Shandong University, Jinan, 250012, Shandong, China.<br /><searchLink fieldCode="AU" term="%22Sun+X%22">Sun X</searchLink>; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China.<br /><searchLink fieldCode="AU" term="%22Lin+P%22">Lin P</searchLink>; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China.<br /><searchLink fieldCode="AU" term="%22Xu+J%22">Xu J</searchLink>; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China.<br /><searchLink fieldCode="AU" term="%22Wang+D%22">Wang D</searchLink>; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China.<br /><searchLink fieldCode="AU" term="%22Sun+X%22">Sun X</searchLink>; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China.<br /><searchLink fieldCode="AU" term="%22Yan+C%22">Yan C</searchLink>; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China.<br /><searchLink fieldCode="AU" term="%22Zhao+Y%22">Zhao Y</searchLink>; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China. zyy72@126.com.<br /><searchLink fieldCode="AU" term="%22Liu+F%22">Liu F</searchLink>; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Disease, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong, 250012, Jinan, China. fuchen.liu@email.sdu.edu.cn.
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  Data: <searchLink fieldCode="JN" term="%22101610673%22">Acta neuropathologica communications</searchLink> [Acta Neuropathol Commun] 2026 May 05; Vol. 14 (1). <i>Date of Electronic Publication: </i>2026 May 05.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101610673 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2051-5960 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220515960%22">20515960 </searchLink><i>NLM ISO Abbreviation: </i>Acta Neuropathol Commun <i>Subsets: </i>MEDLINE
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        Value: 10.1186/s40478-026-02308-9
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              Text: 2026 May 05
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