Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia
Author:
Funder
No funding was received
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-022-05921-3.pdf
Reference19 articles.
1. Shribman S, Reid E, Crosby AH, Houlden H, Warner TT (2019) Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches. Lancet Neurol 18(12):1136–1146. https://doi.org/10.1016/S1474-4422(19)30235-2
2. Klebe S, Stevanin G, Depienne C (2015) Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting. Rev Neurol 171(6–7):505–530. https://doi.org/10.1016/j.neurol.2015.02.017
3. Luo Y, Chen C, Zhan Z, Wang Y, Du J, Hu Z, Liao X, Zhao G, Wang J, Yan X, Jiang H, Pan Q, Xia K, Tang B, Shen L (2014) Mutation and clinical characteristics of autosomal dominant hereditary spastic in China. Neurodegener Dis 14(4):176–183. https://doi.org/10.1159/000365513
4. Juan Du, Ya Cen Hu, Tang B-S, Hong Jiang Lu, Shen, (2018) Identification of novel SPG11 mutations in a cohort of Chinese families with hereditary spastic paraplegia. Int J Neurosci 128(2):146–150. https://doi.org/10.1080/00207454.2017.1378878
5. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015) ACMG Laboratory Quality Assurance Committee, Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424. https://doi.org/10.1038/gim.2015.30
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2. Clinical features and genetic spectrum of Chinese patients with hereditary spastic paraplegia: A 14-year study;Frontiers in Genetics;2023-02-27
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