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Items: 1 to 20 of 300

1.

A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).

Lin P, Li J, Liu Q, Mao F, Li J, Qiu R, Hu H, Song Y, Yang Y, Gao G, Yan C, Yang W, Shao C, Gong Y.

Am J Hum Genet. 2008 Dec;83(6):752-9. doi: 10.1016/j.ajhg.2008.11.003.

2.

Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred.

Lin P, Mao F, Liu Q, Shao C, Yan C, Gong Y.

Prenat Diagn. 2010 May;30(5):485-6. doi: 10.1002/pd.2485. No abstract available.

PMID:
20306460
3.

A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.

Dick KJ, Al-Mjeni R, Baskir W, Koul R, Simpson MA, Patton MA, Raeburn S, Crosby AH.

Neurology. 2008 Jul 22;71(4):248-52. doi: 10.1212/01.wnl.0000319610.29522.8a. Epub 2008 May 7.

PMID:
18463364
4.

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).

Schlipf NA, Beetz C, Schüle R, Stevanin G, Erichsen AK, Forlani S, Zaros C, Karle K, Klebe S, Klimpe S, Durr A, Otto S, Tallaksen CM, Riess O, Brice A, Bauer P, Schöls L.

Eur J Hum Genet. 2010 Sep;18(9):1065-7. doi: 10.1038/ejhg.2010.68. Epub 2010 May 12.

5.

Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24.

Schüle R, Bonin M, Dürr A, Forlani S, Sperfeld AD, Klimpe S, Mueller JC, Seibel A, van de Warrenburg BP, Bauer P, Schöls L.

Neurology. 2009 Jun 2;72(22):1893-8. doi: 10.1212/WNL.0b013e3181a6086c. Epub 2009 Apr 8.

PMID:
19357379
6.

Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q.

Hedera P, DiMauro S, Bonilla E, Wald J, Eldevik OP, Fink JK.

Neurology. 1999 Jul 13;53(1):44-50.

PMID:
10408535
7.

Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group.

Fink JK, Heiman-Patterson T, Bird T, Cambi F, Dubé MP, Figlewicz DA, Fink JK, Haines JL, Heiman-Patterson T, Hentati A, Pericak-Vance MA, Raskind W, Rouleau GA, Siddique T.

Neurology. 1996 Jun;46(6):1507-14. Review.

PMID:
8649538
8.

A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.

Vazza G, Zortea M, Boaretto F, Micaglio GF, Sartori V, Mostacciuolo ML.

Am J Hum Genet. 2000 Aug;67(2):504-9. Epub 2000 Jun 30.

9.

Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p.

Hazan J, Fontaine B, Bruyn RP, Lamy C, van Deutekom JC, Rime CS, Dürr A, Melki J, Lyon-Caen O, Agid Y, et al.

Hum Mol Genet. 1994 Sep;3(9):1569-73.

PMID:
7833913
10.

The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype.

Patel H, Hart PE, Warner TT, Houlston RS, Patton MA, Jeffery S, Crosby AH.

Am J Hum Genet. 2001 Jul;69(1):209-15. Epub 2001 May 25.

11.

Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia.

Ashley-Koch A, Bonner ER, Gaskell PC, West SG, Tim R, Wolpert CM, Jones R, Farrell CD, Nance M, Svenson IK, Marchuk DA, Boustany RM, Vance JM, Scott WK, Pericak-Vance MA.

Neurogenetics. 2001 Mar;3(2):91-7.

PMID:
11354831
12.

Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family.

Mao F, Li Z, Zhao B, Lin P, Liu P, Zhai M, Liu Q, Shao C, Sun W, Gong Y.

Hum Mutat. 2015 Feb;36(2):240-9. doi: 10.1002/humu.22732.

PMID:
25402622
13.

A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.

Warnecke T, Duning T, Schwan A, Lohmann H, Epplen JT, Young P.

Neurology. 2007 Jul 24;69(4):368-75.

PMID:
17646629
14.

Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1.

Dursun U, Koroglu C, Kocasoy Orhan E, Ugur SA, Tolun A.

Neurogenetics. 2009 Oct;10(4):325-31. doi: 10.1007/s10048-009-0191-3. Epub 2009 May 5.

PMID:
19415352
15.

Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree.

Starling A, Rocco P, Passos-Bueno MR, Hazan J, Marie SK, Zatz M.

J Med Genet. 2002 Dec;39(12):e77. No abstract available.

16.

Hereditary spastic paraplegia: genetic heterogeneity and genotype-phenotype correlation.

Fink JK, Hedera P.

Semin Neurol. 1999;19(3):301-9. Review.

PMID:
12194386
17.

Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11).

Winner B, Uyanik G, Gross C, Lange M, Schulte-Mattler W, Schuierer G, Marienhagen J, Hehr U, Winkler J.

Arch Neurol. 2004 Jan;61(1):117-21.

PMID:
14732628
18.

A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3.

Muglia M, Magariello A, Nicoletti G, Patitucci A, Gabriele AL, Conforti FL, Mazzei R, Caracciolo M, Casari G, Ardito B, Lastilla M, Gambardella A, Quattrone A.

J Neurol. 2002 Oct;249(10):1413-6.

PMID:
12382159
19.

Molecular genetics of familial spastic paraplegia: a multitude of responsible genes.

Kobayashi H, Garcia CA, Alfonso G, Marks HG, Hoffman EP.

J Neurol Sci. 1996 May;137(2):131-8. Review.

PMID:
8782167
20.

[AAA ATPases and hereditary spastic paraplegia].

Wang YG, Shen L.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Jun;26(3):298-301. doi: 10.3760/cma.j.issn.1003-9406.2009.03.013. Review. Chinese.

PMID:
19504443

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