Mie University · University Hospital

Research keywordsUllrich congenital muscular dystrophy・GNE myopathy・inclusion body myositis・inflammatory myopathies・alpha-dystroglycan glycosylation・rhabdomyosarcoma matriglycan・polyglutamine disease models

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• Beltrán D, Anderson ME, Bharathy N, Settelmeyer TP, Svalina MN, Bajwa Z, Shern JF, Gultekin SH, Cuellar MA, Yonekawa T, Keller C, Campbell KP. Exogenous expression of the glycosyltransferase LARGE1 restores α-dystroglycan matriglycan and laminin binding in rhabdomyosarcoma. Skelet Muscle 2019; 9: 11.2019 · 主な業績等
• Tomioka I, Ishibashi H, Minakawa EN, Motohashi HH, Takayama O, Saito Y, Popiel HA, Puentes S, Owari K, Nakatani T, Nogami N, Yamamoto K, Noguchi S, Yonekawa T, Tanaka Y, Fujita N, Suzuki H, Kikuchi H, Aizawa S, Nagano S, Yamada D, Nishino I, Ichinohe N, Wada K, Kohsaka S, Nagai Y, Seki K. Transgenic monkey model of the polyglutamine diseases recapitulating progressive neurological symptoms. eNeuro 2017; 4.2017 · 主な業績等
• Zhu W, Mitsuhashi S, Yonekawa T, Noguchi S, Huei JC, Nalini A, Preethish-Kumar V, Yamamoto M, Murakata K, Mori-Yoshimura M, Kamada S, Yahikozawa H, Karasawa M, Kimura S, Yamashita F, Nishino I. Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele. J Hum Genet. 2017; 62: 159-166.2017 · 主な業績等
• Uruha A, Noguchi S, Hayashi YK, Tsuburaya RS, Yonekawa T, Nonaka I, Nishino I. Hepatitis C virus infection in inclusion body myositis: A case-control study. Neurology. 2016; 86: 211-7.2016 · 主な業績等

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