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Journal Abstract Search

120 related items for PubMed ID: 12013904

  • 21. [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
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  • 22. Novel SPG3A and SPG4 mutations in two patients with Silver syndrome.
    Salameh JS, Shenoy AM, David WS.
    J Clin Neuromuscul Dis; 2009 Sep 24; 11(1):57-9. PubMed ID: 19730024
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  • 23. 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
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  • 24. 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 24; 20(2):127-32. PubMed ID: 12124993
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  • 30. A novel phenotype of hereditary spastic paraplegia type 7 associated with a compound heterozygous mutation in paraplegin.
    Mahoney CJ, Dharmadasa T, Huynh W, Halpern JP, Vucic S, Mowat D, Kiernan MC.
    Muscle Nerve; 2020 Jul 24; 62(1):E44-E45. PubMed ID: 32270516
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  • 31. A second leaky splice-site mutation in the spastin gene.
    Svenson IK, Ashley-Koch AE, Pericak-Vance MA, Marchuk DA.
    Am J Hum Genet; 2001 Dec 24; 69(6):1407-9. PubMed ID: 11704932
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  • 32. Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia.
    Muglia M, Magariello A, Nicoletti G, Patitucci A, Gabriele AL, Conforti FL, Mazzei R, Caracciolo M, Ardito B, Lastilla M, Tedeschi G, Quattrone A.
    Ann Neurol; 2002 Jun 24; 51(6):794-5. PubMed ID: 12112092
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  • 33. The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia.
    Ciccarelli FD, Proukakis C, Patel H, Cross H, Azam S, Patton MA, Bork P, Crosby AH.
    Genomics; 2003 Apr 24; 81(4):437-41. PubMed ID: 12676568
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  • 34. 'When atlastin meets spastin'.
    Di Fabio R, Tessa A, Marcotulli C, Leonardi L, Pierelli F, Santorelli FM, Casali C.
    Clin Genet; 2014 Nov 24; 86(5):504-5. PubMed ID: 24417445
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  • 35. Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.
    Park SH, Zhu PP, Parker RL, Blackstone C.
    J Clin Invest; 2010 Apr 24; 120(4):1097-110. PubMed ID: 20200447
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  • 36. 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 24; 86(2):194-6. PubMed ID: 24033003
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  • 37. Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A.
    Abel A, Fonknechten N, Hofer A, Dürr A, Cruaud C, Voit T, Weissenbach J, Brice A, Klimpe S, Auburger G, Hazan J.
    Neurogenetics; 2004 Dec 24; 5(4):239-43. PubMed ID: 15517445
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  • 38. 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 24; 54(6):748-59. PubMed ID: 14681884
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  • 39. A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia.
    Matsui M, Kawarai T, Hase Y, Tomimoto H, Iseki K, Rogaeva E, Orlacchio A, Bernardi G, St George-Hyslop P, Takahashi R, Matsui M.
    J Neurol; 2007 Jul 24; 254(7):972-4. PubMed ID: 17380240
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