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Items: 1 to 20 of 252

1.

Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia.

Battini R, Fogli A, Borghetti D, Michelucci A, Perazza S, Baldinotti F, Conidi ME, Ferreri MI, Simi P, Cioni G.

Eur J Neurol. 2011 Jan;18(1):150-7. doi: 10.1111/j.1468-1331.2010.03102.x.

PMID:
20550563
2.

Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia.

Park SY, Ki CS, Kim HJ, Kim JW, Sung DH, Kim BJ, Lee WY.

Arch Neurol. 2005 Jul;62(7):1118-21.

PMID:
16009769
3.

Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.

Balicza P, Grosz Z, Gonzalez MA, Bencsik R, Pentelenyi K, Gal A, Varga E, Klivenyi P, Koller J, Züchner S, Molnar JM.

J Neurol Sci. 2016 May 15;364:116-21. doi: 10.1016/j.jns.2016.03.018. Epub 2016 Mar 12.

PMID:
27084228
4.

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.

5.

Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.

Loureiro JL, Brandão E, Ruano L, Brandão AF, Lopes AM, Thieleke-Matos C, Miller-Fleming L, Cruz VT, Barbosa M, Silveira I, Stevanin G, Pinto-Basto J, Sequeiros J, Alonso I, Coutinho P.

JAMA Neurol. 2013 Apr;70(4):481-7. doi: 10.1001/jamaneurol.2013.1956. Review.

PMID:
23400676
6.

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.

7.

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
8.

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
9.

A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.

Polymeris AA, Tessa A, Anagnostopoulou K, Rubegni A, Galatolo D, Dinopoulos A, Gika AD, Youroukos S, Skouteli E, Santorelli FM, Pons R.

J Neurol. 2016 Aug;263(8):1604-11. doi: 10.1007/s00415-016-8179-z. Epub 2016 Jun 3.

PMID:
27260292
10.

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
11.

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.

12.

Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.

Crippa F, Panzeri C, Martinuzzi A, Arnoldi A, Redaelli F, Tonelli A, Baschirotto C, Vazza G, Mostacciuolo ML, Daga A, Orso G, Profice P, Trabacca A, D'Angelo MG, Comi GP, Galbiati S, Lamperti C, Bonato S, Pandolfo M, Meola G, Musumeci O, Toscano A, Trevisan CP, Bresolin N, Bassi MT.

Arch Neurol. 2006 May;63(5):750-5.

PMID:
16682546
13.

Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A.

Abel A, Fonknechten N, Hofer A, Dürr A, Cruaud C, Voit T, Weissenbach J, Brice A, Klimpe S, Auburger G, Hazan J.

Neurogenetics. 2004 Dec;5(4):239-43. Epub 2004 Oct 28.

PMID:
15517445
14.

Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families.

Loureiro JL, Miller-Fleming L, Thieleke-Matos C, Magalhães P, Cruz VT, Coutinho P, Sequeiros J, Silveira I.

Acta Neurol Scand. 2009 Feb;119(2):113-8. doi: 10.1111/j.1600-0404.2008.01074.x. Epub 2008 Jul 29.

PMID:
18664244
15.

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.

Dürr A, Camuzat A, Colin E, Tallaksen C, Hannequin D, Coutinho P, Fontaine B, Rossi A, Gil R, Rousselle C, Ruberg M, Stevanin G, Brice A.

Arch Neurol. 2004 Dec;61(12):1867-72.

PMID:
15596607
16.

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
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.

Clinical features of hereditary spastic paraplegia due to spastin mutation.

McDermott CJ, Burness CE, Kirby J, Cox LE, Rao DG, Hewamadduma C, Sharrack B, Hadjivassiliou M, Chinnery PF, Dalton A, Shaw PJ; UK and Irish HSP Consortium.

Neurology. 2006 Jul 11;67(1):45-51. Erratum in: Neurology. 2009 Apr 28;72(17):1534.

PMID:
16832076
19.

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
20.

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

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