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Items: 1 to 20 of 146

1.

SPAST mutations in Australian patients with hereditary spastic paraplegia.

Vandebona H, Kerr NP, Liang C, Sue CM.

Intern Med J. 2012 Dec;42(12):1342-7. doi: 10.1111/j.1445-5994.2012.02941.x.

PMID:
23252998
2.

Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia.

Wei QQ, Chen Y, Zheng ZZ, Chen X, Huang R, Yang Y, Burgunder J, Shang HF.

Parkinsonism Relat Disord. 2014 Aug;20(8):845-9. doi: 10.1016/j.parkreldis.2014.04.021. Epub 2014 May 2.

PMID:
24824479
3.

Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements.

Braschinsky M, Tamm R, Beetz C, Sachez-Ferrero E, Raukas E, Lüüs SM, Gross-Paju K, Boillot C, Canzian F, Metspalu A, Haldre S.

BMC Neurol. 2010 Mar 9;10:17. doi: 10.1186/1471-2377-10-17.

4.

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia.

Beetz C, Nygren AO, Schickel J, Auer-Grumbach M, Bürk K, Heide G, Kassubek J, Klimpe S, Klopstock T, Kreuz F, Otto S, Schüle R, Schöls L, Sperfeld AD, Witte OW, Deufel T.

Neurology. 2006 Dec 12;67(11):1926-30. Epub 2006 Oct 11.

PMID:
17035675
5.

Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.

Svenstrup K, Bross P, Koefoed P, Hjermind LE, Eiberg H, Born AP, Vissing J, Gyllenborg J, Nørremølle A, Hasholt L, Nielsen JE.

J Neurol Sci. 2009 Sep 15;284(1-2):90-5. doi: 10.1016/j.jns.2009.04.024. Epub 2009 May 6.

PMID:
19423133
6.

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.

Kumar KR, Blair NF, Vandebona H, Liang C, Ng K, Sharpe DM, Grünewald A, Gölnitz U, Saviouk V, Rolfs A, Klein C, Sue CM.

J Neurol. 2013 Oct;260(10):2516-22. doi: 10.1007/s00415-013-7008-x. Epub 2013 Jun 28.

PMID:
23812641
7.

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

Alvarez V, Sánchez-Ferrero E, Beetz C, Díaz M, Alonso B, Corao AI, Gámez J, Esteban J, Gonzalo JF, Pascual-Pascual SI, López de Munain A, Moris G, Ribacoba R, Márquez C, Rosell J, Marín R, García-Barcina MJ, Del Castillo E, Benito C, Coto E; Group for the Study of the Genetics of Spastic Paraplegia.

BMC Neurol. 2010 Oct 8;10:89. doi: 10.1186/1471-2377-10-89.

8.

Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.

Park H, Kang SH, Park S, Kim SY, Seo SH, Lee SJ, Lee JA, Cho SI, Sung JJ, Lee KW, Kim JY, Park SS, Seong MW.

J Neurol Sci. 2015 Oct 15;357(1-2):167-72. doi: 10.1016/j.jns.2015.07.024. Epub 2015 Jul 17.

PMID:
26208798
9.

Clinical and genetic analysis of four Taiwanese families with autosomal dominant hereditary spastic paraplegia.

Lan MY, Fu SC, Chang YY, Wu-Chou YH, Lai SC, Chen RS, Lu CS.

J Formos Med Assoc. 2012 Jul;111(7):380-5. doi: 10.1016/j.jfma.2011.06.016. Epub 2012 May 30.

10.

Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia.

Lu X, Cen Z, Xie F, Ouyang Z, Zhang B, Zhao G, Luo W.

J Neurol Sci. 2014 Dec 15;347(1-2):368-71. doi: 10.1016/j.jns.2014.10.017. Epub 2014 Oct 16.

PMID:
25454648
11.

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.

Shoukier M, Neesen J, Sauter SM, Argyriou L, Doerwald N, Pantakani DV, Mannan AU.

Eur J Hum Genet. 2009 Feb;17(2):187-94. doi: 10.1038/ejhg.2008.147. Epub 2008 Aug 13. Erratum in: Eur J Hum Genet. 2009 Mar;17(3):401-2.

12.

Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males.

Proukakis C, Moore D, Labrum R, Wood NW, Houlden H.

J Neurol Sci. 2011 Jul 15;306(1-2):62-5. doi: 10.1016/j.jns.2011.03.043. Epub 2011 May 5. Review.

PMID:
21546041
13.

Novel and recurrent spastin mutations in a large series of SPG4 Italian families.

Nanetti L, Baratta S, Panzeri M, Tomasello C, Lovati C, Azzollini J, Gellera C, Di Bella D, Taroni F, Mariotti C.

Neurosci Lett. 2012 Oct 18;528(1):42-5. doi: 10.1016/j.neulet.2012.08.036. Epub 2012 Aug 25.

PMID:
22960362
14.

Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family.

Miura S, Shibata H, Kida H, Noda K, Toyama T, Iwasaki N, Iwaki A, Ayabe M, Aizawa H, Taniwaki T, Fukumaki Y.

Neurogenetics. 2011 Feb;12(1):25-31. doi: 10.1007/s10048-010-0260-7. Epub 2010 Sep 22.

PMID:
20857310
15.

Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals.

Sulek A, Elert E, Rajkiewicz M, Zdzienicka E, Stepniak I, Krysa W, Zaremba J.

Neurol Sci. 2013 Feb;34(2):239-42. doi: 10.1007/s10072-011-0899-3. Epub 2011 Dec 28.

PMID:
22203332
16.

Four mutations of the spastin gene in Japanese families with spastic paraplegia.

Basri R, Yabe I, Soma H, Takei A, Nishimura H, Machino Y, Kokubo Y, Kosugi M, Okada R, Yukitake M, Tachibana H, Kuroda Y, Kuzuhara S, Sasaki H.

J Hum Genet. 2006;51(8):711-5. Epub 2006 Jun 21.

PMID:
16788734
17.

Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia.

Kim TH, Lee JH, Park YE, Shin JH, Nam TS, Kim HS, Jang HJ, Semenov A, Kim SJ, Kim DS.

J Clin Neurol. 2014 Jul;10(3):257-61. doi: 10.3988/jcn.2014.10.3.257. Epub 2014 Jul 3. Erratum in: J Clin Neurol. 2014 Oct;10(4):376.

18.

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.

Dufke C, Schlipf N, Schüle R, Bonin M, Auer-Grumbach M, Stevanin G, Depienne C, Kassubek J, Klebe S, Klimpe S, Klopstock T, Otto S, Poths S, Seibel A, Stolze H, Gal A, Schöls L, Bauer P.

Neurogenetics. 2012 Aug;13(3):215-27. doi: 10.1007/s10048-012-0329-6. Epub 2012 May 3.

PMID:
22552817
19.

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia.

Boone PM, Liu P, Zhang F, Carvalho CM, Towne CF, Batish SD, Lupski JR.

Genet Med. 2011 Jun;13(6):582-92. doi: 10.1097/GIM.0b013e3182106775.

20.

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.

de Bot ST, van den Elzen RT, Mensenkamp AR, Schelhaas HJ, Willemsen MA, Knoers NV, Kremer HP, van de Warrenburg BP, Scheffer H.

J Neurol Neurosurg Psychiatry. 2010 Oct;81(10):1073-8. doi: 10.1136/jnnp.2009.201103. Epub 2010 Jun 20.

PMID:
20562464
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