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. |
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| 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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