2016-10-07

学会発表

[一般学会]
後藤雄一: ナショナルセンター・バイオバンクネットワークの特徴と最近の話題. 第23回日本遺伝子診療学会大会, 東京, 10.07, 2016

2016-10-07

原著

Watanabe Y, Uruha A, Suzuki S, Nakahara J, Hamanaka K, Takayama K, Suzuki N, Nishino I.
Clinical features and prognosis in anti-SRP and anti-HMGCR necrotizing myopathy.
J Neurol Neurosurg Psychiatry. 2016 Oct;87(10):1038-44.

2016-10-06

学会発表

[国際学会]
Takayama K, Mitsuhashi S, Noguchi S, Nonaka I, Nishino I: Genotype-phenotype correlation in VLCAD deficiency. 21st International Congress of the World Muscle Society, Gradana, Spain, 10.6, 2016

2016-10-06

学会発表

[国際学会]
Lee J, Nishikawa A, Mitsuhashi S, Miyatake S, Koshimizu E, Matsumoto N, Noguchi S, Nishino I: The novel STIM1 mutation with tubular aggregate myopathy and its pathogenicity. 21st International Congress of the World Muscle Society, Gradana, Spain, 10.6, 2016

2016-10-06

学会発表

[国際学会]
Miyakawa M, Cho A, Malicdan M, Nishino I, Noguchi S: S-nitrosylation of muscle contractile proteins and metabolic enzymes causes muscle atrophy and weakness in GNE myopathy. 21st International Congress of the World Muscle Society, Gradana, Spain, 10.6, 2016

2016-10-06

学会発表

[国際学会]
Zhu W, Mitsuhashi S, Yonekawa T, Noguchi S, Chai Yui Huei J, Nalini A, Preethish-Kumar V, Yamamoto M, Murakata K, Mori-Yoshimura M, Kamada S, Yahikozawa H, Karasawa M, Kimura S, Yamashita F, Nishino I: Alu-mediated copy number variants in GNE myopathy. 21st International Congress of the World Muscle Society, Gradana, Spain, 10.6, 2016

2016-10-06

学会発表

[国際学会]
El Sherif R, Nishino I, Nonaka I, Zaitoon S: Clinical, muscle pathology and genetic features of GNE myopathy patients in Egypt; case report. 21st International Congress of the World Muscle Society, Gradana, Spain, 10.6, 2016

2016-10-06

学会発表

[国際学会]
Van der Maarel S, Van den Boogaard M, Lemmers R, Balog J, Mitsuhashi S, Kriek M, Wohlgemuth M, Van der Kooi E, Auranen M, Udd B, Van Tol M, Nishino I, Tawil R, Tapscott S, van Engelen B: Gene variants in SMCHD1 and DNMT3B modify the risk for FSHD. 21st International Congress of the World Muscle Society, Gradana, Spain, 10.6, 2016

2016-10-06

学会発表

[国際学会]
Nishikawa A, Mitsuhashi S, Nishino I: Comprehensive screening for genetic diagnosis in large Japanese congenital myopathy cohort. 21st International Congress of the World Muscle Society, Gradana, Spain, 10.6, 2016

2016-10-06

原著

Miyake N, Fukai R, Ohba C, Chihara T, Miura M, Shimizu H, Kakita A, Imagawa E, Shiina M, Ogata K, Okuno-Yuguchi J, Fueki N, Ogiso Y, Suzumura H, Watabe Y, Imataka G, Leong HY, Fattal-Valevski A, Kramer U, Miyatake S, Kato M, Okamoto N, Sato Y, Mitsuhashi S, Nishino I, Kaneko N, Nishiyama A, Tamura T, Mizuguchi T, Nakashima M, Tanaka F, Saitsu H, Matsumoto N.
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.
Am J Hum Genet. 2016 Oct 6;99(4):950-961.