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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.

A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia.

Reed JA, Wilkinson PA, Patel H, Simpson MA, Chatonnet A, Robay D, Patton MA, Crosby AH, Warner TT.

Neurogenetics. 2005 May;6(2):79-84. Epub 2005 Feb 12.

PMID:
15711826
3.

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
4.

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
5.

Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia.

Fichera M, Lo Giudice M, Falco M, Sturnio M, Amata S, Calabrese O, Bigoni S, Calzolari E, Neri M.

Neurology. 2004 Sep 28;63(6):1108-10. Review.

PMID:
15452312
6.

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.

7.

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
8.

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
9.

Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q.

Hedera P, Rainier S, Alvarado D, Zhao X, Williamson J, Otterud B, Leppert M, Fink JK.

Am J Hum Genet. 1999 Feb;64(2):563-9.

10.

A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3.

Hanein S, Dürr A, Ribai P, Forlani S, Leutenegger AL, Nelson I, Babron MC, Elleuch N, Depienne C, Charon C, Brice A, Stevanin G.

Hum Genet. 2007 Nov;122(3-4):261-73. Epub 2007 Jun 28.

PMID:
17605047
11.

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
12.

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.

13.

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
14.

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.

15.

NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).

Rainier S, Chai JH, Tokarz D, Nicholls RD, Fink JK.

Am J Hum Genet. 2003 Oct;73(4):967-71. Epub 2003 Sep 23.

16.

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
17.

Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family.

Chan KY, Ching CK, Mak CM, Lam CW, Chan AY.

Hong Kong Med J. 2009 Aug;15(4):304-7.

18.

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
19.

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
20.

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.

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