Citations for
1AHDS, 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
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
Fink JK.
Acta Neuropathol 126(3):307-28. doi: 10.1007/s00401-013-1115-8. Epub 2013 Jul 30. 2013
2REEP1, SPG31
Enhanced reticulospinal output in patients with (REEP1) hereditary spastic paraplegia type 31.
Fisher KM, Chinnery PF, Baker SN, Baker MR.
J Neurol 260(12):3182-4. doi: 10.1007/s00415-013-7178-6. Epub 2013 Nov 13. No abstract available. 2013
3REEP1, SPG31
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
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.
Hum Mutat 32(10):1118-27. doi: 10.1002/humu.21542. Epub 2011 Sep 9. 2011
4REEP1, SPG31
Clinical and genetic study of a novel mutation in the REEP1 gene.
Liu SG, Che FY, Heng XY, Li FF, Huang SZ, Lu de G, Hou SJ, Liu SE, Wang Q, Wang HP, Ma X.
Synapse 63(3):201-5.PMID: 19072839 2009
5REEP1, SPG31
New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP).
Hewamadduma C, McDermott C, Kirby J, Grierson A, Panayi M, Dalton A, Rajabally Y, Shaw P.
Neurogenetics 10(2):105-10. Epub 2008 Nov 26.PMID: 19034539 2009
6REEP1, SPG31
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
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.
Brain 131(Pt 4):1078-86. Epub 2008 Mar 5. 2008
7ATL1, SPG10, SPG12, SPG13, SPG17, SPG19, SPG29, SPG31, SPG33, SPG3A, SPG4, SPG41, SPG6, SPG8, SPG9
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia.
Zhao GH, Hu ZM, Shen L, Jiang H, Ren ZJ, Liu XM, Xia K, Guo P, Pan Q, Tang BS.
Chin Med J (Engl) 121(5):430-4. 2008
8REEP1, SPG31
Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).
Schlang KJ, Arning L, Epplen JT, Stemmler S.
BMC Med Genet 9:71.PMID: 18644145 2008
9REEP1, MAT2A, TGOLN2, SPG31
Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.
Zuchner S, Wang G, Tran-Viet KN, Nance MA, Gaskell PC, Vance JM, Ashley-Koch AE, Pericak-Vance MA.
Am J Hum Genet 79(2):365-9. Epub 2006 May 26. 2006