1 | AHDS, SPART, SPG1, SPG10, SPG11, SPG12, SPG13, SPG14, SPG15, SPG16, SPG17, SPG19, SPG2, SPG21, SPG23, SPG24, SPG25, SPG26, SPG27, SPG28, SPG29, SPG30, SPG31, SPG32, SPG33, SPG35, SPG36, SPG37, SPG38, SPG39, SPG41, SPG41, SPG42, SPG43, SPG44, SPG45, SPG46, SPG47, SPG48, SPG49, SPG50, SPG51, SPG52, SPG53, SPG54, SPG55, SPG56
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| Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
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| Fink JK.
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| Acta Neuropathol 126(3):307-28. doi: 10.1007/s00401-013-1115-8. Epub 2013 Jul 30. 2013
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2 | HSPD1, SPG13
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| The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo.
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| Bross P, Naundrup S, Hansen J, Nielsen MN, Christensen JH, Kruh¿ffer M, Palmfeldt J, Corydon TJ, Gregersen N, Ang D, Georgopoulos C, Nielsen KL.
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| J Biol Chem 283(23):15694-700. Epub 2008 Apr 8. 2008
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3 | ATL1, SPG10, SPG12, SPG13, SPG17, SPG19, SPG29, SPG31, SPG33, SPG3A, SPG4, SPG41, SPG6, SPG8, SPG9
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| A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia.
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| Zhao GH, Hu ZM, Shen L, Jiang H, Ren ZJ, Liu XM, Xia K, Guo P, Pan Q, Tang BS.
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| Chin Med J (Engl) 121(5):430-4. 2008
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4 | HDPD1, SPG13
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| HSP60 is a rare cause of hereditary spastic paraparesis, but may act as a genetic modifier.
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| Hewamadduma CA, Kirby J, Kershaw C, Martindale J, Dalton A, McDermott CJ, Shaw PJ.
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| Neurology 70(19):1717-8. No abstract available. PMID: 18458233 2008
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5 | HSPD1, SPG13
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| Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13).
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| Hansen J, Corydon TJ, Palmfeldt J, Dürr A, Fontaine B, Nielsen MN, Christensen JH, Gregersen N, Bross P.
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| Neuroscience 153(2):474-82. Epub 2008 Feb 19.PMID: 18378094 2008
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6 | HSPD1, SPG13
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| A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia.
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| Hansen J, Svenstrup K, Ang D, Nielsen MN, Christensen JH, Gregersen N, Nielsen JE, Georgopoulos C, Bross P.
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| J Neurol 254(7):897-900. Epub 2007 Apr 10.
2007
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7 | SPG7, SPG13, MRPL32, HSPD1
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| Hereditary spastic paraplegia: respiratory choke or unactivated substrate?
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| Claypool SM, Koehler CM.
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| Cell 123(2):183-5. 2005
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8 | HSPD1, HSPE1, SPG13
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| Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.
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| Hansen JJ, Durr A, Cournu-Rebeix I, Georgopoulos C, Ang D, Nielsen MN, Davoine CS, Brice A, Fontaine B, Gregersen N, Bross P.
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| Am J Hum Genet 70(5):1328-32. 2002
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9 | SPG13
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| A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.
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| Fontaine B, Davoine CS, Durr A, Paternotte C, Feki I, Weissenbach J, Hazan J, Brice A.
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| Am J Hum Genet 66(2):702-7. 2000
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