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Journal Abstract Search

218 related items for PubMed ID: 15637712

  • 1. Large deletion involving the 5'-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia.
    Iwanaga H, Tsujino A, Shirabe S, Eguchi H, Fukushima N, Niikawa N, Yoshiura K, Eguchi K.
    Am J Med Genet A; 2005 Feb 15; 133A(1):13-7. PubMed ID: 15637712
    [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 15; 20(2):127-32. PubMed ID: 12124993
    [Abstract] [Full Text] [Related]

  • 3. 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 15; 11(12):817-24. PubMed ID: 15667412
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree.
    Starling A, Rocco P, Passos-Bueno MR, Hazan J, Marie SK, Zatz M.
    J Med Genet; 2002 Dec 15; 39(12):e77. PubMed ID: 12471215
    [No Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 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 15; 61(1):49-55. PubMed ID: 14732620
    [Abstract] [Full Text] [Related]

  • 8. Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.
    Svenson IK, Ashley-Koch AE, Gaskell PC, Riney TJ, Cumming WJ, Kingston HM, Hogan EL, Boustany RM, Vance JM, Nance MA, Pericak-Vance MA, Marchuk DA.
    Am J Hum Genet; 2001 May 15; 68(5):1077-85. PubMed ID: 11309678
    [Abstract] [Full Text] [Related]

  • 9. Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene.
    Bönsch D, Schwindt A, Navratil P, Palm D, Neumann C, Klimpe S, Schickel J, Hazan J, Weiller C, Deufel T, Liepert J.
    J Neurol Neurosurg Psychiatry; 2003 Aug 15; 74(8):1109-12. PubMed ID: 12876245
    [Abstract] [Full Text] [Related]

  • 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 15; 70(6):490-5. PubMed ID: 17100993
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  • 14. Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection.
    Nielsen JE, Koefoed P, Kjaergaard S, Jensen LN, Nørremølle A, Hasholt L.
    Prenat Diagn; 2004 May 15; 24(5):363-6. PubMed ID: 15164410
    [Abstract] [Full Text] [Related]

  • 15. Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis.
    Lindsey JC, Lusher ME, McDermott CJ, White KD, Reid E, Rubinsztein DC, Bashir R, Hazan J, Shaw PJ, Bushby KM.
    J Med Genet; 2000 Oct 15; 37(10):759-65. PubMed ID: 11015453
    [Abstract] [Full Text] [Related]

  • 16. A novel mutation in the spastin gene in a family with spastic paraplegia.
    Morita M, Ho M, Hosler BA, McKenna-Yasek D, Brown RH.
    Neurosci Lett; 2002 May 31; 325(1):57-61. PubMed ID: 12023066
    [Abstract] [Full Text] [Related]

  • 17. 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 31; 249(2):200-5. PubMed ID: 11985387
    [Abstract] [Full Text] [Related]

  • 18. 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 31; 59(2):281-6. PubMed ID: 11843700
    [Abstract] [Full Text] [Related]

  • 19. Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation.
    Del-Favero J, Goossens D, De Jonghe P, Benson K, Michalik A, Van den Bossche D, Horwitz M, Van Broeckhoven C.
    Hum Genet; 1999 Sep 31; 105(3):217-25. PubMed ID: 10987648
    [Abstract] [Full Text] [Related]

  • 20. Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia.
    Solowska JM, Garbern JY, Baas PW.
    Hum Mol Genet; 2010 Jul 15; 19(14):2767-79. PubMed ID: 20430936
    [Abstract] [Full Text] [Related]

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