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Items: 1 to 20 of 200

1.

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
2.

Motor and somatosensory evoked potentials in Autosomal Dominant Hereditary Spastic Paraparesis (ADHSP) linked to chromosome 2p, SPG4.

Sartucci F, Tovani S, Murri L, Sagliocco L.

Brain Res Bull. 2007 Sep 28;74(4):243-9. Epub 2007 Jul 17.

PMID:
17720546
3.

Neurophysiological findings in SPG4 patients differ from other types of spastic paraplegia.

Schulte T, Miterski B, Börnke C, Przuntek H, Epplen JT, Schöls L.

Neurology. 2003 May 13;60(9):1529-32.

PMID:
12743246
4.

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
5.

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
6.

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
7.

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
8.

Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation.

Fusco C, Frattini D, Farnetti E, Nicoli D, Casali B, Fiorentino F, Nuccitelli A, Giustina ED.

Brain Dev. 2010 Aug;32(7):592-4. doi: 10.1016/j.braindev.2009.08.003. Epub 2009 Sep 6.

PMID:
19735987
9.

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
10.

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
11.

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.

12.

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
13.

Mental deficiency in three families with SPG4 spastic paraplegia.

Ribaï P, Depienne C, Fedirko E, Jothy AC, Viveweger C, Hahn-Barma V, Brice A, Durr A.

Eur J Hum Genet. 2008 Jan;16(1):97-104. Epub 2007 Oct 24.

14.

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.

15.

The prevalence of hereditary spastic paraplegia and the occurrence of SPG4 mutations in Estonia.

Braschinsky M, Luus SM, Gross-Paju K, Haldre S.

Neuroepidemiology. 2009;32(2):89-93. doi: 10.1159/000177033. Epub 2008 Nov 27.

PMID:
19039240
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.

Investigation of mitochondrial function in hereditary spastic paraparesis.

McDermott CJ, Taylor RW, Hayes C, Johnson M, Bushby KM, Turnbull DM, Shaw PJ.

Neuroreport. 2003 Mar 3;14(3):485-8.

PMID:
12634509
18.

Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia.

Magariello A, Muglia M, Patitucci A, Mazzei R, Conforti FL, Gabriele AL, Sprovieri T, Ungaro C, Gambardella A, Mancuso M, Siciliano G, Branca D, Aguglia U, de Angelis MV, Longo K, Quattrone A.

Neuromuscul Disord. 2006 Jun;16(6):387-90. Epub 2006 May 8.

PMID:
16684598
19.

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.

20.

Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.

Meijer IA, Hand CK, Cossette P, Figlewicz DA, Rouleau GA.

Arch Neurol. 2002 Feb;59(2):281-6.

PMID:
11843700

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