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Exome sequencing and disease-network analysis of a single family implicate a mutation in <i>KIF1A<\/i> in hereditary spastic paraparesis. Genome Res 21: 658-664, 2011.","DOI":"10.1101\/gr.117143.110"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Alazami AM, Adly N, Al Dhalaan H, Alkuraya FS. A nullimorphic <i>ERLIN2<\/i> mutation defines a complicated Hereditary Spastic Paraplegia locus (SPG18). Neurogenetics 12: 333-336, 2011.","DOI":"10.1007\/s10048-011-0291-8"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Casari G, De Fusco M, Ciarmatori S, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93: 973-983, 1998.","DOI":"10.1016\/S0092-8674(00)81203-9"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Warnecke T, Duning T, Schwan A, Lohmann H, Epplen JT, Young P. A novel form of autosomal recessive hereditary spastic paraplegia caused by a new <i>SPG7<\/i> mutation. Neurology 69: 368-375, 2007.","DOI":"10.1212\/01.wnl.0000266667.91074.fe"},{"key":"9","unstructured":"9. van Gassen KL, van der Heijden CD, de Bot ST, et al. Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. Brain 135: 2994-3004, 2012."},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Klebe S, Depienne C, Gerber S, et al. Spastic paraplegia gene 7 in patients with spasticity and\/or optic neuropathy. Brain 135: 2980-2993, 2012.","DOI":"10.1093\/brain\/aws240"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Elleuch N, Depienne C, Benomar A, et al. Mutation analysis of the paraplegin gene (<i>SPG7<\/i>) in patients with hereditary spastic paraplegia. Neurology 66: 654-659, 2006.","DOI":"10.1212\/01.wnl.0000201185.91110.15"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Schlipf NA, Schule R, Klimpe S, et al. Amplicon-based high-throughput pooled sequencing identifies mutations in <i>CYP7B1<\/i> and <i>SPG7<\/i> in sporadic spastic paraplegia patients. Clin Genet 80: 148-160, 2011.","DOI":"10.1111\/j.1399-0004.2011.01715.x"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Arnoldi A, Tonelli A, Crippa F, et al. A clinical, genetic, and biochemical characterization of <i>SPG7<\/i> mutations in a large cohort of patients with hereditary spastic paraplegia. Hum Mutat 29: 522-531, 2008.","DOI":"10.1002\/humu.20682"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Tzoulis C, Denora PS, Santorelli FM, Bindoff LA. Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. J Neurol 255: 1142-1144, 2008.","DOI":"10.1007\/s00415-008-0858-y"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Wilkinson PA, Crosby AH, Turner C, et al. A clinical, genetic and biochemical study of <i>SPG7<\/i> mutations in hereditary spastic paraplegia. Brain 127: 973-980, 2004.","DOI":"10.1093\/brain\/awh125"},{"key":"16","unstructured":"16. Tsuji S, Onodera O, Goto J, Nishizawa M, Study Groupon Ataxic D. Sporadic ataxias in Japan: a population-based epidemiological study. Cerebellum 7: 189-197, 2008."},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Takiyama Y, Ishiura H, Shimazaki H, et al. Japan spastic paraplegia research consortium (JASPAC). Rinsho Shinkeigaku 50: 931-934, 2010 (in Japanese, Abstract in English).","DOI":"10.5692\/clinicalneurol.50.931"},{"key":"18","unstructured":"18. Majewski J, Wang Z, Lopez I, et al. A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing. J Med Genet 48: 593-596, 2011."},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Tsurusaki Y, Osaka H, Hamanoue H, et al. Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing. J Med Genet 48: 606-609, 2011.","DOI":"10.1136\/jmg.2010.083535"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Bonn F, Pantakani K, Shoukier M, Langer T, Mannan AU. Functional evaluation of paraplegin mutations by a yeast complementation assay. Hum Mutat 31: 617-621, 2010.","DOI":"10.1002\/humu.21226"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Brugman F, Scheffer H, Wokke JH, et al. <i>Paraplegin<\/i> mutations in sporadic adult-onset upper motor neuron syndromes. Neurology 71: 1500-1505, 2008.","DOI":"10.1212\/01.wnl.0000319700.11606.21"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. McDermott CJ, Dayaratne RK, Tomkins J, et al. Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England. 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