期刊
PARKINSONISM & RELATED DISORDERS
卷 96, 期 -, 页码 43-44出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.parkreldis.2022.02.004
关键词
Hereditary spastic paraplegia; HSP; NOTCH2NLC; NIID; GGC repeat Expansion
资金
- Ministry of Science and Technology, Taiwan [109-2314-B-075-044-MY3]
- Taipei Veterans General Hospital [V110C-034]
- Brain Research Center, National Yang-Ming University from The Featured Areas Research Center Program within Ministry of Education (MOE) in Taiwan
We investigated 98 Taiwanese patients with molecularly unassigned hereditary spastic paraplegia (HSP) and found none of them had the NOTCH2NLC GGC repeat expansion, which is the cause of neuronal intranuclear inclusion disease (NIID). Our findings suggest that the NOTCH2NLC GGC repeat expansion may not contribute to HSP.
We investigated 98 Taiwanese patients with molecularly unassigned hereditary spastic paraplegia (HSP) and found none of them had the NOTCH2NLC GGC repeat expansion, which is the cause of neuronal intranuclear inclusion disease (NIID). Our findings suggest that the NOTCH2NLC GGC repeat expansion may not contribute to HSP.
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