2015-10-02

学会発表

[国際学会]
Aartsma-Rus A, Hoffman E, Bucella F, Flanigan K, Kirschner J, Kole A, Mercuri E, Nishino I, North K, Pereda Alonso A, Rahbek J, Sejersen T, Wood M, Lynn S, Robertson A, Lochmuller H, Straub V, Bushby K: TREAT-NMD (translational research in Europe, assessment and treatment for neuromuscular disorders). 20th International Congress of the World Muscle Society, Brighton, UK, 10.2, 2015

2015-10-02

学会発表

[国際学会]
Nishikawa A, Mitsuhashi S, Mitsuhashi H, Noguchi S, Nishino I: Severe congenital myofibrillar myopathy with intranuclear rods due to LMNA E383K mutation. 20th International Congress of the World Muscle Society, Brighton, UK, 10.2, 2015

2015-10-02

学会発表

[国際学会]
Mitsuhashi S, Nishikawa A, Zhu W, Termglinchan T, Shin JY, Takayama K, Uruha A, Endo Y, Noguchi S, Nishino I: High-throughput genetic testing for muscle disease and an exome database of the undiagnosed in Japan. 20th International Congress of the World Muscle Society, Brighton, UK, 10.2, 2015

2015-10-02

学会発表

[国際学会]
Zhu W, Ito T, Tanboon J, Mitsuhashi S, Noguchi S, Nishino I: Variant to mutation －pathology, next generation sequencing, cellular biology. 20th International Congress of the World Muscle Society, Brighton, UK, 10.2, 2015

2015-10-01

学会発表

[国際学会]
Takayama K, Mitsuhashi S, Nonaka I, Noguchi S, Nishino I: Gene mutation screening using whole exome sequencing in lipid storage myopathy. 20th International Congress of the World Muscle Society, Brighton, UK, 10.1, 2015

2015-10-01

学会発表

[国際学会]
Ishiyama A, Sakai C, Endo Y, Mitsuhashi S, Noguchi S, Matsushima Y, Hayashi YK, Komaki H, Sugai K, Sasaki M, Nonaka I, Goto YI, Nishino I: Mutations in iron-sulfur cluster assembly gene IBA57 cause progressive cavitating leukoencephalopathy. 20th International Congress of the World Muscle Society, Brighton, UK, 10.1, 2015

2015-10-01

学会発表

[国際学会]
Liang WC, Chou P, Kan T, Su Y, Hayashi Y, Nishino I, Jong Y: Probable high prevalence of limb-girdle muscular dystrophy type 2D in the aboriginal tribes settled in southern Taiwan. 20th International Congress of the World Muscle Society, Brighton, UK, 10.1, 2015

2015-09-24

原著

Izumi R, Warita H, Niihori T, Takahashi T, Tateyama M, Suzuki N, Nishiyama A, Shirota M, Funayama R, Nakayama K, Mitsuhashi S, Nishino I, Aoki Y, Aoki M.
Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutation.
Neurol Genet. 2015 Sep 24;1(3):e23.

2015-09-18

学会発表

[特別講演、シンポジウム]
Nishino I: Next generation sequencing analysis on hereditary muscle diseases. 11th Asia-Pacific Conference on Human Genetics, Hanoi, Vietnam, 9.18, 2015

2015-09-12

学会発表

[一般学会]
漆葉章典, 野口悟, 三橋里美, 西村洋昭, 後藤加奈子, 西野一三: Plasma IP-10 level distinguishes inflammatory myopathy. 第7回筋炎ワークショップ, 新宿, 9.12, 2015