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Journal Abstract Search
441 related items for PubMed ID: 16832076
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. PubMed ID: 16832076 [Abstract] [Full Text] [Related]
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 11; 20(2):127-32. PubMed ID: 12124993 [Abstract] [Full Text] [Related]
5. 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 11; 21(2):170. PubMed ID: 12552568 [Abstract] [Full Text] [Related]
6. 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 11; 63(5):750-5. PubMed ID: 16682546 [Abstract] [Full Text] [Related]
9. 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 11; 48(3):193-7. PubMed ID: 17122756 [Abstract] [Full Text] [Related]
11. 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 11; 70(4):481-7. PubMed ID: 23400676 [Abstract] [Full Text] [Related]
12. 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 11; 14(12):1322-8. PubMed ID: 17916079 [Abstract] [Full Text] [Related]
13. 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 11; 62(7):1118-21. PubMed ID: 16009769 [Abstract] [Full Text] [Related]
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 11; 8(10):771-6. PubMed ID: 11039577 [Abstract] [Full Text] [Related]
15. 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 11; 70(6):490-5. PubMed ID: 17100993 [Abstract] [Full Text] [Related]
16. Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia. Magariello A, Muglia M, Patitucci A, Ungaro C, Mazzei R, Gabriele AL, Sprovieri T, Citrigno L, Conforti FL, Liguori M, Gambardella A, Bono F, Piccoli T, Patti F, Zappia M, Mancuso M, Iemolo F, Quattrone A. J Neurol Sci; 2010 Jan 15; 288(1-2):96-100. PubMed ID: 19875132 [Abstract] [Full Text] [Related]
18. 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 15; 61(1):49-55. PubMed ID: 14732620 [Abstract] [Full Text] [Related]
19. 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 15; 123(7):1454-9. PubMed ID: 22192498 [Abstract] [Full Text] [Related]
20. 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 15; 44(4):281-4. PubMed ID: 17098887 [Abstract] [Full Text] [Related] Page: [Next] [New Search]