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 | REEP1, SPG31
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| Enhanced reticulospinal output in patients with (REEP1) hereditary spastic paraplegia type 31.
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| Fisher KM, Chinnery PF, Baker SN, Baker MR.
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| J Neurol 260(12):3182-4. doi: 10.1007/s00415-013-7178-6. Epub 2013 Nov 13. No abstract available.
2013
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3 | REEP1, SPG31
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| REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
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| Goizet C, Depienne C, Benard G, Boukhris A, Mundwiller E, Solé G, Coupry I, Pilliod J, Martin-Négrier ML, Fedirko E, Forlani S, Cazeneuve C, Hannequin D, Charles P, Feki I, Pinel JF, Ouvrard-Hernandez AM, Lyonnet S, Ollagnon-Roman E, Yaouanq J, Toutain A, Dussert C, Fontaine B, Leguern E, Lacombe D, Durr A, Rossignol R, Brice A, Stevanin G.
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| Hum Mutat 32(10):1118-27. doi: 10.1002/humu.21542. Epub 2011 Sep 9.
2011
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4 | REEP1, SPG31
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| Clinical and genetic study of a novel mutation in the REEP1 gene.
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| Liu SG, Che FY, Heng XY, Li FF, Huang SZ, Lu de G, Hou SJ, Liu SE, Wang Q, Wang HP, Ma X.
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| Synapse 63(3):201-5.PMID: 19072839 2009
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5 | REEP1, SPG31
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| New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP).
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| Hewamadduma C, McDermott C, Kirby J, Grierson A, Panayi M, Dalton A, Rajabally Y, Shaw P.
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| Neurogenetics 10(2):105-10. Epub 2008 Nov 26.PMID: 19034539 2009
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6 | REEP1, SPG31
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| REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
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| Beetz C, Schüle R, Deconinck T, Tran-Viet KN, Zhu H, Kremer BP, Frints SG, van Zelst-Stams WA, Byrne P, Otto S, Nygren AO, Baets J, Smets K, Ceulemans B, Dan B, Nagan N, Kassubek J, Klimpe S, Klopstock T, Stolze H, Smeets HJ, Schrander-Stumpel CT, Hutchinson M, van de Warrenburg BP, Braastad C, Deufel T, Pericak-Vance M, Schöls L, de Jonghe P, Züchner S.
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| Brain 131(Pt 4):1078-86. Epub 2008 Mar 5. 2008
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7 | 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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8 | REEP1, SPG31
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| Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).
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| Schlang KJ, Arning L, Epplen JT, Stemmler S.
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| BMC Med Genet 9:71.PMID: 18644145 2008
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9 | REEP1, MAT2A, TGOLN2, SPG31
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| Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.
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| Zuchner S, Wang G, Tran-Viet KN, Nance MA, Gaskell PC, Vance JM, Ashley-Koch AE, Pericak-Vance MA.
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| Am J Hum Genet 79(2):365-9. Epub 2006 May 26. 2006
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