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300 related items for PubMed ID: 12893968
1. Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy. Toda T, Kobayashi K, Takeda S, Sasaki J, Kurahashi H, Kano H, Tachikawa M, Wang F, Nagai Y, Taniguchi K, Taniguchi M, Sunada Y, Terashima T, Endo T, Matsumura K. Congenit Anom (Kyoto); 2003 Jun; 43(2):97-104. PubMed ID: 12893968 [Abstract] [Full Text] [Related]
2. Fukutin and alpha-dystroglycanopathies. Toda T, Chiyonobu T, Xiong H, Tachikawa M, Kobayashi K, Manya H, Takeda S, Taniguchi M, Kurahashi H, Endo T. Acta Myol; 2005 Oct; 24(2):60-3. PubMed ID: 16550916 [Abstract] [Full Text] [Related]
3. [Alpha-dystroglycanopathy (FCMD, MEB, etc): abnormal glycosylation and muscular dystrophy]. Toda T. Rinsho Shinkeigaku; 2005 Nov; 45(11):932-4. PubMed ID: 16447766 [Abstract] [Full Text] [Related]
6. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG. Am J Hum Genet; 2002 Nov; 71(5):1033-43. PubMed ID: 12369018 [Abstract] [Full Text] [Related]
10. Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Moore SA, Saito F, Chen J, Michele DE, Henry MD, Messing A, Cohn RD, Ross-Barta SE, Westra S, Williamson RA, Hoshi T, Campbell KP. Nature; 2002 Jul 25; 418(6896):422-5. PubMed ID: 12140559 [Abstract] [Full Text] [Related]
11. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F. Hum Mol Genet; 2003 Nov 01; 12(21):2853-61. PubMed ID: 12966029 [Abstract] [Full Text] [Related]
12. Deficiency of alpha-dystroglycan in muscle-eye-brain disease. Kano H, Kobayashi K, Herrmann R, Tachikawa M, Manya H, Nishino I, Nonaka I, Straub V, Talim B, Voit T, Topaloglu H, Endo T, Yoshikawa H, Toda T. Biochem Biophys Res Commun; 2002 Mar 15; 291(5):1283-6. PubMed ID: 11883957 [Abstract] [Full Text] [Related]
14. [Recent Advances in α-dystroglycanopathy]. Kuga A, Kanagawa M, Toda T. Brain Nerve; 2011 Nov 15; 63(11):1189-95. PubMed ID: 22068471 [Abstract] [Full Text] [Related]
15. Glycosylation defects: a new mechanism for muscular dystrophy? Grewal PK, Hewitt JE. Hum Mol Genet; 2003 Oct 15; 12 Spec No 2():R259-64. PubMed ID: 12925572 [Abstract] [Full Text] [Related]
16. [Dystroglycan linkage and muscular dystrophy]. Shimizu T. Rinsho Shinkeigaku; 2002 Nov 15; 42(11):1091-4. PubMed ID: 12784674 [Abstract] [Full Text] [Related]
19. Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan. Xiong H, Kobayashi K, Tachikawa M, Manya H, Takeda S, Chiyonobu T, Fujikake N, Wang F, Nishimoto A, Morris GE, Nagai Y, Kanagawa M, Endo T, Toda T. Biochem Biophys Res Commun; 2006 Dec 01; 350(4):935-41. PubMed ID: 17034757 [Abstract] [Full Text] [Related]
20. The role of defective glycosylation in congenital muscular dystrophy. Schachter H, Vajsar J, Zhang W. Glycoconj J; 2004 Dec 01; 20(5):291-300. PubMed ID: 15229394 [Abstract] [Full Text] [Related] Page: [Next] [New Search]