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11,993 results

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Page 1
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. Kano H, et al. Among authors: kobayashi k. Biochem Biophys Res Commun. 2002 Mar 15;291(5):1283-6. doi: 10.1006/bbrc.2002.6608. Biochem Biophys Res Commun. 2002. PMID: 11883957
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T. Taniguchi K, et al. Among authors: kobayashi k. Hum Mol Genet. 2003 Mar 1;12(5):527-34. doi: 10.1093/hmg/ddg043. Hum Mol Genet. 2003. PMID: 12588800
A new mutation of the fukutin gene in a non-Japanese patient.
Silan F, Yoshioka M, Kobayashi K, Simsek E, Tunc M, Alper M, Cam M, Guven A, Fukuda Y, Kinoshita M, Kocabay K, Toda T. Silan F, et al. Among authors: kobayashi k. Ann Neurol. 2003 Mar;53(3):392-6. doi: 10.1002/ana.10491. Ann Neurol. 2003. PMID: 12601708
Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development.
Takeda S, Kondo M, Sasaki J, Kurahashi H, Kano H, Arai K, Misaki K, Fukui T, Kobayashi K, Tachikawa M, Imamura M, Nakamura Y, Shimizu T, Murakami T, Sunada Y, Fujikado T, Matsumura K, Terashima T, Toda T. Takeda S, et al. Among authors: kobayashi k. Hum Mol Genet. 2003 Jun 15;12(12):1449-59. doi: 10.1093/hmg/ddg153. Hum Mol Genet. 2003. PMID: 12783852
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. Toda T, et al. Among authors: kobayashi k. Congenit Anom (Kyoto). 2003 Jun;43(2):97-104. doi: 10.1111/j.1741-4520.2003.tb01033.x. Congenit Anom (Kyoto). 2003. PMID: 12893968 Review.
11,993 results
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