https://scholars.lib.ntu.edu.tw/handle/123456789/586648| Title: | Clinical and genetic characterization of hereditary spastic paraplegia type 3A in Taiwan | Authors: | Hsu S.-L. HSUEH-WEN HSUEH Chen S.-Y. Chang Y.-Y. Tan S. Hong C.-T. Tsai Y.-S. Yu K.-W. Wu H.-M. Liao Y.-C. Soong B.-W. Hu C.-J. Lan M.-Y. Lee Y.-C. |
Keywords: | ATL1; Atlastin-1; Hereditary spastic paraplegia; HSP; SPG3A | Issue Date: | 2021 | Journal Volume: | 87 | Start page/Pages: | 87-91 | Source: | Parkinsonism and Related Disorders | Abstract: | Aim: To investigate the clinical and genetic features of hereditary spastic paraplegia (HSP) type 3A (SPG3A) in Taiwan. Methods: Mutational analysis of the ATL1 gene was performed for 274 unrelated Taiwanese HSP patients. The diagnosis of SPG3A was ascert |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85106285142&doi=10.1016%2fj.parkreldis.2021.05.004&partnerID=40&md5=495ffcbe64d87f926ff9e586e2771b40 https://scholars.lib.ntu.edu.tw/handle/123456789/586648 |
ISSN: | 13538020 | DOI: | 10.1016/j.parkreldis.2021.05.004 | SDG/Keyword: | adolescent; adult; aged; allele; Article; atlastin 1 gene; brain; child; clinical evaluation; clinical feature; cohort analysis; disability; disease severity; electrophysiology; female; founder effect; functional status assessment; gene; gene frequency; g [SDGs]SDG3 |
| Appears in Collections: | 醫學院附設醫院 (臺大醫院) |
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