Concepedia

Muscular Dystrophy and Neuronal Migration Disorder Caused by Mutations in a Glycosyltransferase, POMGnT1

Aruto Yoshida, Kazuhiro Kobayashi, Hiroshi Manya, Kiyomi Taniguchi, Hiroki Kano, Mamoru Mizuno, Toshiyuki Inazu, Hideyo Mitsuhashi, Seiichiro Takahashi, Makoto Takeuchi,

Developmental Cell · 2001 · 710 citations · 20 references

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Dystrophin: The protein product of the duchenne muscular dystrophy locus

Eric P. Hoffman, Robert H. Brown, Louis M. Kunkel · Cell · 1987 · 4.7K citations

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Fringe is a glycosyltransferase that modifies Notch

Daniel J. Moloney, Vladislav M. Panin, Stuart H. Johnston et al. · Nature · 2000 · 846 citations

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An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

Kazuhiro Kobayashi, Yutaka Nakahori, Masashi Miyake et al. · Nature · 1998 · 804 citations

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Congenital progressive muscular dystrophy of the fukuyama type — clinical, genetic and pathological considerations —

Yukio Fukuyama, Makiko Ōsawa, Haruko Suzuki · Brain and Development · 1981 · 471 citations

, , +13

Diagnostic criteria for Walker‐Warburg syndrome

William B. Dobyns, Roberta A Pagon, Dawna Armstrong et al. · American Journal of Medical Genetics · 1989 · 448 citations

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