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Journal Abstract Search

141 related items for PubMed ID: 11704932

  • 21. 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; 61(1):49-55. PubMed ID: 14732620
    [Abstract] [Full Text] [Related]

  • 22. Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation.
    McDermott CJ, Grierson AJ, Wood JD, Bingley M, Wharton SB, Bushby KM, Shaw PJ.
    Ann Neurol; 2003 Dec; 54(6):748-59. PubMed ID: 14681884
    [Abstract] [Full Text] [Related]

  • 23. SPG4-related hereditary spastic paraplegia: frequency and mutation spectrum in Brazil.
    França MC, Dogini DB, D'Abreu A, Teive HA, Munhoz RP, Raskin S, Moro A, Melo CC, Gomes AP, Saute JA, Jardim LB, Lopes-Cendes I.
    Clin Genet; 2014 Aug; 86(2):194-6. PubMed ID: 24033003
    [No Abstract] [Full Text] [Related]

  • 24. [Hereditary spastic paraplegia].
    Kanda T, Kobayashi H.
    Nihon Rinsho; 2002 Apr; 60 Suppl 4():429-32. PubMed ID: 12013904
    [No Abstract] [Full Text] [Related]

  • 25. 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
    [Abstract] [Full Text] [Related]

  • 26. Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.
    Errico A, Ballabio A, Rugarli EI.
    Hum Mol Genet; 2002 Jan 15; 11(2):153-63. PubMed ID: 11809724
    [Abstract] [Full Text] [Related]

  • 27. Spastin accumulation and motor neuron defects caused by a novel SPAST splice site mutation.
    Luo M, Wang Y, Liang J, Wan X.
    J Transl Med; 2024 Sep 27; 22(1):872. PubMed ID: 39334479
    [Abstract] [Full Text] [Related]

  • 28. The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B.
    Reid E, Connell J, Edwards TL, Duley S, Brown SE, Sanderson CM.
    Hum Mol Genet; 2005 Jan 01; 14(1):19-38. PubMed ID: 15537668
    [Abstract] [Full Text] [Related]

  • 29. [Recent progress in genetic study of hereditary spastic paraplegia].
    Takano H, Kasuga K, Kobayashi H, Nishizawa M.
    No To Shinkei; 2003 Sep 01; 55(9):757-63. PubMed ID: 14571837
    [No Abstract] [Full Text] [Related]

  • 30. Novel human pathological mutations. Gene symbol: SPAST. Disease: Hereditary spastic paraplegia.
    Tamm R.
    Hum Genet; 2010 Jan 01; 127(1):112. PubMed ID: 20108387
    [No Abstract] [Full Text] [Related]

  • 31. [Spastin gene mutation in Chinese patients with hereditary spastic paraplegia].
    Zhao GH, Tang BS, Luo W, Xia K, Zhuang MY, Kong FB, Yan XX, Deng HX, Xiao JF, Xia JH.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Jun 01; 20(3):177-80. PubMed ID: 12778437
    [Abstract] [Full Text] [Related]

  • 32. Spastic paraplegia in Romania: high prevalence of SPG4 mutations.
    Orlacchio A, Patrono C, Borreca A, Babalini C, Bernardi G, Kawarai T.
    J Neurol Neurosurg Psychiatry; 2008 May 01; 79(5):606-7. PubMed ID: 17971434
    [No Abstract] [Full Text] [Related]

  • 33. Novel splice site mutation of SPG4 in a Chinese family with hereditary spastic paraplegia.
    Liu X, Tang J.
    Neurol Sci; 2014 Sep 01; 35(9):1453-5. PubMed ID: 24659419
    [No Abstract] [Full Text] [Related]

  • 34. No correlation between amount of aberrant transcript and severity of phenotype in hereditary spastic paraplegia patients with a c.1242A > G splice mutation in the SPG4 gene.
    Sauter SM, Dörwald N, Engel W, Neesen J.
    J Neurol; 2006 Jun 01; 253(6):804-5. PubMed ID: 16362530
    [No Abstract] [Full Text] [Related]

  • 35. 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 01; 70(6):490-5. PubMed ID: 17100993
    [Abstract] [Full Text] [Related]

  • 36. 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 01; 74(8):1109-12. PubMed ID: 12876245
    [Abstract] [Full Text] [Related]

  • 37. Molecular basis of inherited spastic paraplegias.
    Casari G, Rugarli E.
    Curr Opin Genet Dev; 2001 Jun 01; 11(3):336-42. PubMed ID: 11377972
    [Abstract] [Full Text] [Related]

  • 38. [From gene to disease; spastin and hereditary spastic paraparesis].
    Bruyn RP, Frants RR.
    Ned Tijdschr Geneeskd; 2004 Jan 24; 148(4):179-81. PubMed ID: 14974310
    [Abstract] [Full Text] [Related]

  • 39. 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 24; 14(11):750-3. PubMed ID: 15482961
    [Abstract] [Full Text] [Related]

  • 40. Spastin gene mutation in Japanese with hereditary spastic paraplegia.
    Yabe I, Sasaki H, Tashiro K, Matsuura T, Takegami T, Satoh T.
    J Med Genet; 2002 Aug 24; 39(8):e46. PubMed ID: 12161613
    [No Abstract] [Full Text] [Related]

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