Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants
Author:
Funder
Elsass Fonden
Novo Nordisk Fonden
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,Neurology
Link
http://link.springer.com/article/10.1007/s00415-019-09196-1/fulltext.html
Reference24 articles.
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2. Zhao X, Alvarado D, Rainier S, Hedera P, Weber CH, Tukel T, Apak M, Heiman-Patterson T, Ming L, Bui M, Fink JK (2001) kal Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet 29(3):326–331
3. Züchner S, Wang G, Tran-Viet KN, Nance MA, Gaskell PC, Vance JM, Ashley-Koch AE, Pericak-Vance MA (2006) Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet 79(2):365–369
4. Beetz C, Schüle R, Deconinck T et al (2008) REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain 131:1078–1086
5. Schlang KJ, Arning L, Epplen JT (2008) Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). BMC Med Genet 9:71
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