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Journal Abstract Search

539 related items for PubMed ID: 10610178

  • 1. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
    Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, Davoine CS, Cruaud C, Dürr A, Wincker P, Brottier P, Cattolico L, Barbe V, Burgunder JM, Prud'homme JF, Brice A, Fontaine B, Heilig B, Weissenbach J.
    Nat Genet; 1999 Nov; 23(3):296-303. PubMed ID: 10610178
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  • 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. PubMed ID: 12124993
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  • 3. 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. PubMed ID: 11039577
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  • 7. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
    Fonknechten N, Mavel D, Byrne P, Davoine CS, Cruaud C, Bönsch D, Samson D, Coutinho P, Hutchinson M, McMonagle P, Burgunder JM, Tartaglione A, Heinzlef O, Feki I, Deufel T, Parfrey N, Brice A, Fontaine B, Prud'homme JF, Weissenbach J, Dürr A, Hazan J.
    Hum Mol Genet; 2000 Mar 01; 9(4):637-44. PubMed ID: 10699187
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  • 9. 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 01; 59(2):281-6. PubMed ID: 11843700
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  • 10. Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia.
    Patrono C, Casali C, Tessa A, Cricchi F, Fortini D, Carrozzo R, Siciliano G, Bertini E, Santorelli FM.
    J Neurol; 2002 Feb 01; 249(2):200-5. PubMed ID: 11985387
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  • 11. 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. PubMed ID: 19423133
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  • 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 15; 62(7):1118-21. PubMed ID: 16009769
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  • 13. 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 15; 48(3):193-7. PubMed ID: 17122756
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  • 16. A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia.
    Ki CS, Lee WY, Han DH, Sung DH, Lee KB, Lee KA, Cho SS, Cho S, Hwang H, Sohn KM, Choi YJ, Kim JW.
    J Hum Genet; 2002 Sep 15; 47(9):473-7. PubMed ID: 12202986
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  • 19. Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia.
    Pantakani DV, Zechner U, Arygriou L, Pauli S, Sauter SM, Mannan AU.
    Clin Genet; 2008 Mar 15; 73(3):268-72. PubMed ID: 18190593
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  • 20. 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 15; 70(6):490-5. PubMed ID: 17100993
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