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Journal Abstract Search

127 related items for PubMed ID: 15742100

  • 21. Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.
    Zhu PP, Denton KR, Pierson TM, Li XJ, Blackstone C.
    Hum Mol Genet; 2014 Nov 01; 23(21):5638-48. PubMed ID: 24908668
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  • 23. Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene.
    D'Amico A, Tessa A, Sabino A, Bertini E, Santorelli FM, Servidei S.
    Neurology; 2004 Jun 08; 62(11):2138-9. PubMed ID: 15184642
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  • 25. The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1.
    Botzolakis EJ, Zhao J, Gurba KN, Macdonald RL, Hedera P.
    Mol Cell Neurosci; 2011 Jan 08; 46(1):122-35. PubMed ID: 20816793
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  • 26. Novel mutation in the ATL1 with autosomal dominant hereditary spastic paraplegia presented as dysautonomia.
    Shin JW, Jung KH, Lee ST, Moon J, Seong MW, Park SS, Lee SK, Chu K.
    Auton Neurosci; 2014 Oct 08; 185():141-3. PubMed ID: 24969372
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  • 29. Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis.
    Namekawa M, Muriel MP, Janer A, Latouche M, Dauphin A, Debeir T, Martin E, Duyckaerts C, Prigent A, Depienne C, Sittler A, Brice A, Ruberg M.
    Mol Cell Neurosci; 2007 May 08; 35(1):1-13. PubMed ID: 17321752
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  • 30. Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.
    Willkomm L, Heredia R, Hoffmann K, Wang H, Voit T, Hoffman EP, Cirak S.
    J Hum Genet; 2016 Jun 08; 61(6):571-3. PubMed ID: 26888483
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  • 32. Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype.
    Haberlová J, Claeys KG, Zámecník J, De Jonghe P, Seeman P.
    J Neurol; 2008 Jun 08; 255(6):927-8. PubMed ID: 18446315
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  • 34. A novel insertion mutation in atlastin 1 is associated with spastic quadriplegia, increased membrane tethering, and aberrant conformational switching.
    Kelly CM, Zeiger PJ, Narayanan V, Ramsey K, Sondermann H.
    J Biol Chem; 2022 Jan 08; 298(1):101438. PubMed ID: 34808209
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  • 35. Atlastin-1, the dynamin-like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum.
    Muriel MP, Dauphin A, Namekawa M, Gervais A, Brice A, Ruberg M.
    J Neurochem; 2009 Sep 08; 110(5):1607-16. PubMed ID: 19573020
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  • 36. PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier.
    Rogaeva E, Bergeron C, Sato C, Moliaka I, Kawarai T, Toulina A, Song YQ, Kolesnikova T, Orlacchio A, Bernardi G, St George-Hyslop PH.
    Neurology; 2003 Oct 14; 61(7):1005-7. PubMed ID: 14557582
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  • 37. Thin corpus callosum and amyotrophy in spastic paraplegia--case report and review of literature.
    Winner B, Gross C, Uyanik G, Schulte-Mattler W, Lürding R, Marienhagen J, Bogdahn U, Windpassinger C, Hehr U, Winkler J.
    Clin Neurol Neurosurg; 2006 Oct 14; 108(7):692-8. PubMed ID: 16102895
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  • 38. Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking.
    Zhao J, Hedera P.
    Mol Cell Neurosci; 2013 Jan 14; 52():87-96. PubMed ID: 23079343
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  • 39. A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family.
    Li XH, Song C, Chen SQ, Zhou Y, Guo H, Zhou CL, Yang ZY, Liang YX, Wang YM.
    Chin Med J (Engl); 2007 May 05; 120(9):834-7. PubMed ID: 17531128
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  • 40. A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene.
    Namekawa M, Nelson I, Ribai P, Dürr A, Denis E, Stevanin G, Ruberg M, Brice A.
    Neurogenetics; 2006 May 05; 7(2):131-2. PubMed ID: 16612642
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