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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":"2","doi-asserted-by":"crossref","unstructured":"2. Atorino L, Silvestri L, Koppen M, et al. Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol 163: 777-787, 2003.","DOI":"10.1083\/jcb.200304112"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Pfeffer G, Pyle A, Griffin H, et al. SPG7 mutations are a common cause of undiagnosed ataxia. Neurology 84: 1174-1176, 2015.","DOI":"10.1212\/WNL.0000000000001369"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Choquet K, T\u00e9treault M, Yang S, et al. SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 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Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia. Intern Med 52: 1629-1633, 2013.","DOI":"10.2169\/internalmedicine.52.0252"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Yahikozawa H, Yoshida K, Sato S, et al. Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7). Hum Genome Var 2: 15012, 2015.","DOI":"10.1038\/hgv.2015.12"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25: 1754-1760, 2009.","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Li H, Handsaker B, Wysoker A, et al. The Sequence Alignment\/Map format and SAMtools. 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