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Hereditary spastic paraplegia 13
- ... P, Kremensky I, Mitev V, De Jonghe P. Hereditary spastic paraplegia 3A associated with axonal neuropathy. Arch Neurol. 2007 May;64(5):706-13. doi: 10.1001/archneur.64.5.706. Citation ...
- ... M, Fink JK. Novel locus for autosomal dominant hereditary spastic paraplegia, ... Spastic Paraplegia 8. 2008 Aug 13 [updated 2020 May 21]. In: Adam MP, Feldman ...
- ... Brown NA, Crosby AH. Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons. Exp Cell Res. 2006 Sep 10;312(15):2764-77. doi: 10.1016/j.yexcr.2006.05.003. Epub 2006 May 13. Citation on PubMed Wan N, Hong Z, Parson ...
- ... Arning L, Epplen JT, Stemmler S. Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). BMC ... Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet. 2006 Aug; ...
- ... mutations are common in familial cases of complicated hereditary spastic paraplegia. Neurology. 2008 Apr 15;70(16 Pt 2): ... H. Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11). Eur J Neurol. ...