2017-02-24

学会発表

[特別講演・シンポジウム]
Noguchi S, Ogawa M, Malicdan MC, Nonaka I, Nishino I: Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy.International Conference on Collagen VI Disorders, Virginia, USA, 2.24, 2017

2017-02-18

原著

Nakamura K, Hamaguchi T, Sakai K, Noto D, Ono K, Hayashi YK, Nishino I, Yamada M.
Granuloma formation in a patient with GNE myopathy: A case report.
Neuromuscul Disord. 2017 Feb;27(2):183-184.

2017-02-17

原著

Nishikawa A, Mitsuhashi S, Miyata N, Nishino I.
Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders.
J Med Genet. 2017 Feb;54(2):104-110.

2017-02-16

原著

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 Feb;62(2):159-166.

2017-02-16

原著

Liang WC, Uruha A, Suzuki S, Murakami N, Takeshita E, Chen WZ, Jong YJ, Endo Y, Komaki H, Fujii T, Kawano Y, Mori-Yoshimura M, Oya Y, Xi J, Zhu W, Zhao C, Watanabe Y, Ikemoto K, Nishikawa A, Hamanaka K, Mitsuhashi S, Suzuki N, Nishino I.
Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies.
Rheumatology (Oxford). 2017 Feb;56(2):287-293.

2017-02-15

原著

Noguchi S, Ogawa M, Malicdan MC, Nonaka I, Nishino I.
Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy.
EBioMedicine. 2017 Feb;15:193-202.

2017-02-15

原著

Tsunoda K, Yamashita T, Motokura E, Takahashi Y, Sato K, Takemoto M, Hishikawa N, Ohta Y, Nishikawa A, Nishino I, Abe K.
A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene.
J Neurol Sci. 2017 Feb 15;373:254-257.

2017-02-09

原著

Liang WC, Tian X, Yuo CY, Chen WZ, Kan TM, Su YN, Nishino I, Wong LC, Jong YJ.
Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.
PLoS One. 2017 Feb 9;12(2):e0170517.

2017-02-08

学会発表

[特別講演・シンポジウム]
Nishino I: Development of Therapy for GNE Myopathy. 3rd International Rare Diseases Research Consortium Conference. Paris, France, 2.8, 2017

2017-02-03

原著

Liang WC, Uruha A, Suzuki S, Murakami N, Takeshita E, Chen WZ, Jong YJ, Endo Y, Komaki H, Fujii T, Kawano Y, Mori-Yoshimura M, Oya Y, Xi J, Zhu W, Zhao C, Watanabe Y, Ikemoto K, Nishikawa A, Hamanaka K, Mitsuhashi S, Suzuki N, Nishino I.
Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies.
Rheumatology (Oxford). 2017 Feb;56(2):287-293.