Novel Pathogenic Variant of SPAST (c.1413+4A>G) in a Patient with Hereditary Spastic Paraplegia

참고문헌 (7)

1. Richards S, "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, pp.405~424 (2015)
2. Lo Giudice T, "Hereditary spastic paraplegia : clinical-genetic characteristics and evolving molecular mechanisms", Exp Neurol, 261, pp.518~539 (2014)
3. Solowska JM, "Hereditary spastic paraplegia SPG4 : what is known and not known about the disease", Brain, 138, pp.2471~2484 (2015)
4. Kumar KR, "An update on the hereditary spastic paraplegias : new genes and new disease models", Mov Disord Clin Pract, 2, pp.213~223 (2015)
5. Fink JK, "Advances in the hereditary spastic paraplegias", Exp Neurol, 184(Suppl 1), pp.S106~S110 (2003)
6. McDermott CJ, "Clinical features of hereditary spastic paraplegia due to spastin mutation", Neurology, 67, pp.45~51 (2006)
7. Svenson IK, "Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations", Neurogenetics, 5, pp.157~164 (2004)

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