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Journal Abstract Search

132 related items for PubMed ID: 12736085

  • 1. A novel insertion mutation in spastin gene is the cause of spastic paraplegia in a Chinese family.
    Qin W, Zhang T, Han J, Tang L, Li X, Feng G, Liu W, He L.
    J Neurol Sci; 2003 Jun 15; 210(1-2):35-9. PubMed ID: 12736085
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  • 2. A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study.
    Namekawa M, Takiyama Y, Sakoe K, Shimazaki H, Amaike M, Niijima K, Nakano I, Nishizawa M.
    J Neurol Sci; 2001 Mar 15; 185(1):63-8. PubMed ID: 11266693
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  • 3. Hereditary spastic paraplegia: clinical genetic study of 15 families.
    Orlacchio A, Kawarai T, Totaro A, Errico A, St George-Hyslop PH, Rugarli EI, Bernardi G.
    Arch Neurol; 2004 Jun 15; 61(6):849-55. PubMed ID: 15210521
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  • 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 15; 20(2):127-32. PubMed ID: 12124993
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  • 5. 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. PubMed ID: 12163196
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  • 6. 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 15; 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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  • 8. 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 01; 11(12):817-24. PubMed ID: 15667412
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  • 10. 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 01; 61(1):49-55. PubMed ID: 14732620
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  • 12. Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis.
    Falco M, Scuderi C, Musumeci S, Sturnio M, Neri M, Bigoni S, Caniatti L, Fichera M.
    Neuromuscul Disord; 2004 Nov 01; 14(11):750-3. PubMed ID: 15482961
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  • 15. Novel mutation of the Spastin gene in familial spastic paraplegia.
    De Bantel A, McWilliams S, Auysh D, Echol C, Sambuughin N, Sivakumar K.
    Clin Genet; 2001 May 01; 59(5):364-5. PubMed ID: 11359470
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  • 17. Novel mutations in spastin gene and absence of correlation with age at onset of symptoms.
    Hentati A, Deng HX, Zhai H, Chen W, Yang Y, Hung WY, Azim AC, Bohlega S, Tandan R, Warner C, Laing NG, Cambi F, Mitsumoto H, Roos RP, Boustany RM, Ben Hamida M, Hentati F, Siddique T.
    Neurology; 2000 Nov 14; 55(9):1388-90. PubMed ID: 11087788
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  • 18. 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 14; 70(6):490-5. PubMed ID: 17100993
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  • 19. 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
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