A clinical and genetic study of SPG31 in Japan
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s10038-022-01021-4.pdf
Reference22 articles.
1. Zuchner S, Wang G, Tran-Viet K-N, Nance MA, Gaskell PC, Vance JM, et al. Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet. 2006;79:365–9.
2. Toft A, Birk S, Ballegaard M, Dunø M, Hjermind LE, Nielsen JE, et al. Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants. J Neurol. 2019;266:735–44.
3. Beetz C, Schule R, Deconinck T, Tran-Viet K-N, Zhu H, Kremer BPH, et al. REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain. 2008;131:1078–86.
4. Schlang KJ, Arning L, Epplen JT, Stemmler S. Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). BMC Med Genet. 2008;9:71.
5. Goizet C, Depienne C, Benard G, Boukhris A, Mundwiller E, Sole G, et al. REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Hum Mutat. 2011;32:1118–27.
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