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Items: 1 to 20 of 210

1.

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
2.

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
3.

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.

Svenson IK, Kloos MT, Gaskell PC, Nance MA, Garbern JY, Hisanaga S, Pericak-Vance MA, Ashley-Koch AE, Marchuk DA.

Neurogenetics. 2004 Sep;5(3):157-64. Epub 2004 Jul 10.

PMID:
15248095
4.

Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation.

Nielsen JE, Johnsen B, Koefoed P, Scheuer KH, Grønbech-Jensen M, Law I, Krabbe K, Nørremølle A, Eiberg H, Søndergård H, Dam M, Rehfeld JF, Krarup C, Paulson OB, Hasholt L, Sørensen SA.

Eur J Neurol. 2004 Dec;11(12):817-24.

PMID:
15667412
5.

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
6.

Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.

Proukakis C, Auer-Grumbach M, Wagner K, Wilkinson PA, Reid E, Patton MA, Warner TT, Crosby AH.

Hum Mutat. 2003 Feb;21(2):170.

PMID:
12552568
7.

Identification of a novel mutation in the spastin gene (SPG4) in an Italian family with hereditary spastic paresis.

Bertelli M, Cecchin S, Lorusso L, Sidoti V, Fabbri A, Lapucci C, Buda A, Pandolfo M.

Panminerva Med. 2006 Sep;48(3):193-7.

PMID:
17122756
8.

Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.

Ivanova N, Löfgren A, Tournev I, Rousev R, Andreeva A, Jordanova A, Georgieva V, Deconinck T, Timmerman V, Kremensky I, De Jonghe P, Mitev V.

Clin Genet. 2006 Dec;70(6):490-5.

PMID:
17100993
9.

Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia.

Schickel J, Pamminger T, Ehrsam A, Münch S, Huang X, Klopstock T, Kurlemann G, Hemmerich P, Dubiel W, Deufel T, Beetz C.

Eur J Neurol. 2007 Dec;14(12):1322-8. Epub 2007 Oct 3.

PMID:
17916079
10.

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
11.

Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene.

Bönsch D, Schwindt A, Navratil P, Palm D, Neumann C, Klimpe S, Schickel J, Hazan J, Weiller C, Deufel T, Liepert J.

J Neurol Neurosurg Psychiatry. 2003 Aug;74(8):1109-12.

12.

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
13.

Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia.

Proukakis C, Hart PE, Cornish A, Warner TT, Crosby AH.

J Neurol Sci. 2002 Sep 15;201(1-2):65-9.

PMID:
12163196
14.

Hereditary spastic paraplegia caused by mutations in the SPG4 gene.

Bürger J, Fonknechten N, Hoeltzenbein M, Neumann L, Bratanoff E, Hazan J, Reis A.

Eur J Hum Genet. 2000 Oct;8(10):771-6.

15.

Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia.

Tang B, Zhao G, Xia K, Pan Q, Luo W, Shen L, Long Z, Dai H, Zi X, Jiang H.

Arch Neurol. 2004 Jan;61(1):49-55.

PMID:
14732620
16.

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.

17.

Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation--a neurophysiological study using excitability techniques.

Kumar KR, Sue CM, Burke D, Ng K.

Clin Neurophysiol. 2012 Jul;123(7):1454-9. doi: 10.1016/j.clinph.2011.11.080. Epub 2011 Dec 21.

PMID:
22192498
18.

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia.

Depienne C, Fedirko E, Forlani S, Cazeneuve C, Ribaï P, Feki I, Tallaksen C, Nguyen K, Stankoff B, Ruberg M, Stevanin G, Durr A, Brice A.

J Med Genet. 2007 Apr;44(4):281-4. Epub 2006 Nov 10.

19.

Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases.

Depienne C, Tallaksen C, Lephay JY, Bricka B, Poea-Guyon S, Fontaine B, Labauge P, Brice A, Durr A.

J Med Genet. 2006 Mar;43(3):259-65. Epub 2005 Jul 31.

20.

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.

Patrono C, Scarano V, Cricchi F, Melone MA, Chiriaco M, Napolitano A, Malandrini A, De Michele G, Petrozzi L, Giraldi C, Santoro L, Servidei S, Casali C, Filla A, Santorelli FM.

Hum Mutat. 2005 May;25(5):506.

PMID:
15841487

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