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Results: 1 to 20 of 149

Similar articles for PubMed (Select 14985266)

1.

A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia.

Wilkinson PA, Crosby AH, Turner C, Bradley LJ, Ginsberg L, Wood NW, Schapira AH, Warner TT.

Brain. 2004 May;127(Pt 5):973-80. Epub 2004 Feb 25. Erratum in: Brain. 2004 Sep;127(Pt 9):2148.

2.

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.

Elleuch N, Depienne C, Benomar A, Hernandez AM, Ferrer X, Fontaine B, Grid D, Tallaksen CM, Zemmouri R, Stevanin G, Durr A, Brice A.

Neurology. 2006 Mar 14;66(5):654-9.

PMID:
16534102
3.

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.

Arnoldi A, Tonelli A, Crippa F, Villani G, Pacelli C, Sironi M, Pozzoli U, D'Angelo MG, Meola G, Martinuzzi A, Crimella C, Redaelli F, Panzeri C, Renieri A, Comi GP, Turconi AC, Bresolin N, Bassi MT.

Hum Mutat. 2008 Apr;29(4):522-31. doi: 10.1002/humu.20682.

PMID:
18200586
4.

A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.

Warnecke T, Duning T, Schwan A, Lohmann H, Epplen JT, Young P.

Neurology. 2007 Jul 24;69(4):368-75.

PMID:
17646629
5.

A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects.

Warnecke T, Duning T, Schirmacher A, Mohammadi S, Schwindt W, Lohmann H, Dziewas R, Deppe M, Ringelstein EB, Young P.

Mov Disord. 2010 Mar 15;25(4):413-20. doi: 10.1002/mds.22949.

PMID:
20108356
6.

Respiratory chain defects in hereditary spastic paraplegias.

Piemonte F, Casali C, Carrozzo R, Schägger H, Patrono C, Tessa A, Tozzi G, Cricchi F, Di Capua M, Siciliano G, Amabile GA, Morocutti C, Bertini E, Santorelli FM.

Neuromuscul Disord. 2001 Sep;11(6-7):565-9.

PMID:
11525886
7.

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
8.

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

Klebe S, Depienne C, Gerber S, Challe G, Anheim M, Charles P, Fedirko E, Lejeune E, Cottineau J, Brusco A, Dollfus H, Chinnery PF, Mancini C, Ferrer X, Sole G, Destée A, Mayer JM, Fontaine B, de Seze J, Clanet M, Ollagnon E, Busson P, Cazeneuve C, Stevanin G, Kaplan J, Rozet JM, Brice A, Durr A.

Brain. 2012 Oct;135(Pt 10):2980-93. doi: 10.1093/brain/aws240.

9.

Genomic structure and expression analysis of the spastic paraplegia gene, SPG7.

Settasatian C, Whitmore SA, Crawford J, Bilton RL, Cleton-Jansen AM, Sutherland GR, Callen DF.

Hum Genet. 1999 Jul-Aug;105(1-2):139-44.

PMID:
10480368
10.

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.

Schlipf NA, Schüle R, Klimpe S, Karle KN, Synofzik M, Schicks J, Riess O, Schöls L, Bauer P.

Clin Genet. 2011 Aug;80(2):148-60. doi: 10.1111/j.1399-0004.2011.01715.x. Epub 2011 Jun 13.

PMID:
21623769
11.

Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions.

Wedding IM, Koht J, Tran GT, Misceo D, Selmer KK, Holmgren A, Frengen E, Bindoff L, Tallaksen CM, Tzoulis C.

PLoS One. 2014 Jan 22;9(1):e86340. doi: 10.1371/journal.pone.0086340. eCollection 2014.

12.

Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.

Tzoulis C, Denora PS, Santorelli FM, Bindoff LA.

J Neurol. 2008 Aug;255(8):1142-4. doi: 10.1007/s00415-008-0858-y. Epub 2008 Jun 23.

PMID:
18563470
13.

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.

Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF.

Brain. 2014 May;137(Pt 5):1323-36. doi: 10.1093/brain/awu060. Epub 2014 Apr 10.

14.

Functional evaluation of paraplegin mutations by a yeast complementation assay.

Bonn F, Pantakani K, Shoukier M, Langer T, Mannan AU.

Hum Mutat. 2010 May;31(5):617-21. doi: 10.1002/humu.21226.

PMID:
20186691
15.

Alternative splicing of Spg7, a gene involved in hereditary spastic paraplegia, encodes a variant of paraplegin targeted to the endoplasmic reticulum.

Mancuso G, Barth E, Crivello P, Rugarli EI.

PLoS One. 2012;7(5):e36337. doi: 10.1371/journal.pone.0036337. Epub 2012 May 1.

16.

SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.

Sánchez-Ferrero E, Coto E, Beetz C, Gámez J, Corao AI, Díaz M, Esteban J, del Castillo E, Moris G, Infante J, Menéndez M, Pascual-Pascual SI, López de Munaín A, Garcia-Barcina MJ, Alvarez V; Genetics of Spastic Paraplegia study group.

Clin Genet. 2013 Mar;83(3):257-62. doi: 10.1111/j.1399-0004.2012.01896.x. Epub 2012 May 21.

PMID:
22571692
17.

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

van Gassen KL, van der Heijden CD, de Bot ST, den Dunnen WF, van den Berg LH, Verschuuren-Bemelmans CC, Kremer HP, Veldink JH, Kamsteeg EJ, Scheffer H, van de Warrenburg BP.

Brain. 2012 Oct;135(Pt 10):2994-3004. doi: 10.1093/brain/aws224. Epub 2012 Sep 10.

18.

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.

Orlén H, Melberg A, Raininko R, Kumlien E, Entesarian M, Söderberg P, Påhlman M, Darin N, Kyllerman M, Holmberg E, Engler H, Eriksson U, Dahl N.

Am J Med Genet B Neuropsychiatr Genet. 2009 Oct 5;150B(7):984-92. doi: 10.1002/ajmg.b.30928.

PMID:
19194956
19.

Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.

Liao SS, Shen L, Du J, Zhao GH, Wang XY, Yang Y, Xiao ZQ, Yuan Y, Jiang H, Li N, Sun HD, Wang JL, Wang CY, Zhou YF, Mo XY, Xia K, Tang BS.

J Neurol Sci. 2008 Dec 15;275(1-2):92-9. doi: 10.1016/j.jns.2008.07.038. Epub 2008 Oct 2.

PMID:
18835492
20.

Differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult-onset upper motor neuron syndromes.

Brugman F, Veldink JH, Franssen H, de Visser M, de Jong JM, Faber CG, Kremer BH, Schelhaas HJ, van Doorn PA, Verschuuren JJ, Bruyn RP, Kuks JB, Robberecht W, Wokke JH, van den Berg LH.

Arch Neurol. 2009 Apr;66(4):509-14. doi: 10.1001/archneurol.2009.19.

PMID:
19364936
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