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35. First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia. Magariello A, Tortorella C, Patitucci A, Tortelli R, Liguori M, Mazzei R, Conforti FL, Citrigno L, Ungaro C, Simone IL, Muglia M. Eur J Neurol; 2013 Jan 12; 20(1):e22-3. PubMed ID: 23279441 [No Abstract] [Full Text] [Related]
37. A second leaky splice-site mutation in the spastin gene. Svenson IK, Ashley-Koch AE, Pericak-Vance MA, Marchuk DA. Am J Hum Genet; 2001 Dec 12; 69(6):1407-9. PubMed ID: 11704932 [No Abstract] [Full Text] [Related]
39. Hereditary spastic paraplegias. Lau KK, Ching CK, Mak CM, Chan YW. Hong Kong Med J; 2009 Jun 12; 15(3):217-20. PubMed ID: 19494379 [Abstract] [Full Text] [Related]
40. Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia. Proukakis C, Hart PE, Cornish A, Warner TT, Crosby AH. J Neurol Sci; 2002 Sep 15; 201(1-2):65-9. PubMed ID: 12163196 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]