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Journal Abstract Search

131 related items for PubMed ID: 9153525

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  • 8. A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype.
    Navon R, Khosravi R, Korczyn T, Masson M, Sonnino S, Fardeau M, Eymard B, Lefevre M, Turpin JC, Rondot P.
    Neurology; 1995 Mar; 45(3 Pt 1):539-43. PubMed ID: 7898712
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  • 9. Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect.
    Santoro M, Modoni A, Sabatelli M, Madia F, Piemonte F, Tozzi G, Ricci E, Tonali PA, Silvestri G.
    Mol Genet Metab; 2007 May; 91(1):111-4. PubMed ID: 17251047
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  • 10. [Molecular basis of spinal muscular atrophy: th SMN gene].
    Tizzano E, Baiget M.
    Neurologia; 2000 Nov; 15(9):393-400. PubMed ID: 11195146
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  • 11. [Neonatal muscular spinal atrophy: a case report].
    Pavone P, Velardita M, Trigilia T, Luca G, Lucenti C, Romeo G, Falsaperla R.
    Pediatr Med Chir; 2004 Nov; 26(2):139-41. PubMed ID: 15700740
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  • 12. [Late infantile and juvenile form of GM2-gangliosidosis variant B1].
    Eirís J, Chabás A, Coll MJ, Castro-Gago M.
    Rev Neurol; 2004 Nov; 29(5):435-8. PubMed ID: 10584247
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  • 16. Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA.
    Wicklow BA, Ivanovich JL, Plews MM, Salo TJ, Noetzel MJ, Lueder GT, Cartegni L, Kaback MM, Sandhoff K, Steiner RD, Triggs-Raine BL.
    Am J Med Genet A; 2004 Jun 01; 127A(2):158-66. PubMed ID: 15108204
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  • 17. Restoration of hexosaminidase A activity in human Tay-Sachs fibroblasts via adenoviral vector-mediated gene transfer.
    Akli S, Guidotti JE, Vigne E, Perricaudet M, Sandhoff K, Kahn A, Poenaru L.
    Gene Ther; 1996 Sep 01; 3(9):769-74. PubMed ID: 8875224
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  • 18. A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease.
    Kuroki Y, Itoh K, Nadaoka Y, Tanaka T, Sakuraba H.
    Biochem Biophys Res Commun; 1995 Jul 17; 212(2):564-71. PubMed ID: 7626071
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  • 19. A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.
    Cuscó I, López E, Soler-Botija C, Jesús Barceló M, Baiget M, Tizzano EF.
    Hum Mutat; 2003 Aug 17; 22(2):136-43. PubMed ID: 12872254
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  • 20. [Spinal muscular atrophy: a hexosaminidase A deficiency phenotype].
    Kawanami T, Kato T.
    Ryoikibetsu Shokogun Shirizu; 1999 Aug 17; (27 Pt 2):379-81. PubMed ID: 10434678
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