| 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 | 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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| 3 | BSCL2, SPG17
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| The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology.
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| Szymanski KM, Binns D, Bartz R, Grishin NV, Li WP, Agarwal AK, Garg A, Anderson RG, Goodman JM.
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| Proc Natl Acad Sci U S A 104(52):20890-5. Epub 2007 Dec 18. 2007
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| 4 | BSCL2, SPG17
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| Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases.
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| Ito D, Suzuki N.
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| Ann Neurol 61(3):237-50.
2007
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| 5 | BSCL2, SPG17
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| Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy.
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| Cho HJ, Sung DH, Ki CS.
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| Muscle Nerve 36(3):384-6.
2007
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| 6 | BSCL2, SPG17
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| BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.
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| van de Warrenburg BP, Scheffer H, van Eijk JJ, Versteeg MH, Kremer H, Zwarts MJ, Schelhaas HJ, van Engelen BG.
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| Neuromuscul Disord 16(2):122-5. Epub 2006 Jan 19. 2006
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| 7 | BSCL2, SPG17
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| Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
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| Auer-Grumbach M, Schlotter-Weigel B, Lochmuller H, Strobl-Wildemann G, Auer-Grumbach P, Fischer R, Offenbacher H, Zwick EB, Robl T, Hartl G, Hartung HP, Wagner K, Windpassinger C; Austrian Peripheral Neuropathy Study Group.
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| Ann Neurol 57(3):415-24. 2005
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| 8 | SPG17, BSCL2
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| Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
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| Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Horl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K.
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| Nat Genet 36(3):271-6. Epub 2004 Feb 22. 2004
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| 9 | SPG17
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| Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes.
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| Windpassinger C, Wagner K, Petek E, Fischer R, Auer-Grumbach M.
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| Hum Genet 114(1):99-109. Epub 2003 Sep 16. 2003
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| 10 | SPG17
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| The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype.
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| Patel H, Hart PE, Warner TT, Houlston RS, Patton MA, Jeffery S, Crosby AH.
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| Am J Hum Genet 69(1):209-15. 2001
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