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Items: 1 to 20 of 111

1.

Transcriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia.

Henson BJ, Zhu W, Hardaway K, Wetzel JL, Stefan M, Albers KM, Nicholls RD.

PLoS One. 2012;7(5):e36505. doi: 10.1371/journal.pone.0036505. Epub 2012 May 4.

2.

A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother.

Aulitzky A, Friedrich K, Gläser D, Gastl R, Kubisch C, Ludolph AC, Volk AE.

J Neurol Sci. 2014 Dec 15;347(1-2):352-5. doi: 10.1016/j.jns.2014.09.046. Epub 2014 Oct 2.

PMID:
25315759
3.

Hereditary spastic paraplegia SPG4: what is known and not known about the disease.

Solowska JM, Baas PW.

Brain. 2015 Sep;138(Pt 9):2471-84. doi: 10.1093/brain/awv178. Epub 2015 Jun 20. Review.

4.

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
5.

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
6.

Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.

Elert-Dobkowska E, Stepniak I, Krysa W, Rajkiewicz M, Rakowicz M, Sobanska A, Rudzinska M, Wasielewska A, Pilch J, Kubalska J, Lipczynska-Lojkowska W, Kulczycki J, Kurdziel K, Sikorska A, Beetz C, Zaremba J, Sulek A.

J Neurol Sci. 2015 Dec 15;359(1-2):35-9. doi: 10.1016/j.jns.2015.10.030. Epub 2015 Oct 17.

PMID:
26671083
7.

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
8.

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.

9.

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
10.

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
11.

Loss of spastin function results in disease-specific axonal defects in human pluripotent stem cell-based models of hereditary spastic paraplegia.

Denton KR, Lei L, Grenier J, Rodionov V, Blackstone C, Li XJ.

Stem Cells. 2014 Feb;32(2):414-23. doi: 10.1002/stem.1569.

12.

A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations.

Abrahamsen G, Fan Y, Matigian N, Wali G, Bellette B, Sutharsan R, Raju J, Wood SA, Veivers D, Sue CM, Mackay-Sim A.

Dis Model Mech. 2013 Mar;6(2):489-502. doi: 10.1242/dmm.010884. Epub 2012 Dec 20. Erratum in: Dis Model Mech. 2015 Oct 1;8(10):1339.

13.

High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia.

Lan MY, Chang YY, Yeh TH, Lai SC, Liou CW, Kuo HC, Wu YR, Lyu RK, Hung JW, Chang YC, Lu CS.

BMC Neurol. 2014 Nov 25;14:216. doi: 10.1186/s12883-014-0216-x.

14.

Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.

Sauter S, Miterski B, Klimpe S, Bönsch D, Schöls L, Visbeck A, Papke T, Hopf HC, Engel W, Deufel T, Epplen JT, Neesen J.

Hum Mutat. 2002 Aug;20(2):127-32.

PMID:
12124993
15.

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
16.

SPG4 gene promoter regulation via Elk1 transcription factor.

Canbaz D, Kırımtay K, Karaca E, Karabay A.

J Neurochem. 2011 May;117(4):724-34. doi: 10.1111/j.1471-4159.2011.07243.x. Epub 2011 Apr 6.

17.

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
18.

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.

Chelban V, Tucci A, Lynch DS, Polke JM, Santos L, Jonvik H, Groppa S, Wood NW, Houlden H.

J Neurol Neurosurg Psychiatry. 2017 Aug;88(8):681-687. doi: 10.1136/jnnp-2017-315796. Epub 2017 Jun 1.

19.

A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform.

Mancuso G, Rugarli EI.

BMC Biol. 2008 Jul 9;6:31. doi: 10.1186/1741-7007-6-31.

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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