2017-05-13

学会発表

[国際学会]
Takayama K, Mitsuhashi S, Noguchi S, Nonaka I, Nishino I: Gene mutation screening using whole exome sequencing in lipid storage myopathy (LSM). 14th Asian and Oceanian Congress of Child Neurology 2017, Fukuoka, 5.13, 2017

2017-05-12

学会発表

[その他（講演等）]
Nishino I: Pompe disease – How can we make a diagnosis? 14th Asian and Oceanian Congress of Child Neurology, Luncheon Seminar 6, Fukuoka, 5.12, 2017

2017-05-07

原著

磯部　隆，森まどか，大矢　寧，齊藤祐子，村田美穂，西野一三，高橋祐二：自己免疫性甲状腺疾患とシェーグレン症候群を合併している慢性ミオパチー型筋サルコイドーシスの1例：症例報告及び筋サルコイドーシス自験例の検討．臨床神経学．57(5): 220-224, May, 2017

2017-05-06

原著

Hanai S, Sukigara S, Dai H, Owa T, Horike S, Otsuki T, Saito T, Nakagawa E, Ikegaya N, Kaido T, Takahashi A, Sato N, Sugai K, Saito Y, Sasaki M, Hoshino M, Goto Y, Koizumi S, Itoh M.
Pathological active mTOR mutation in brain malformation with intractable epilepsy leads to cell-autonomous migration delay.
Am J Pathol. 2017 May;187(5):1177-1185.

2017-05-05

原著

Kadoya M, Ogata K, Suzuki M, Honma Y, Momma K, Yatabe K, Tamura T, Kaida K, Miyata N, Nishino I, Nonaka I, Kawai M.
A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties.
Neuromuscul Disord. 2017 May;27(5):477-480.

2017-05-04

原著

Suzuki S, Uruha A, Suzuki N, Nishino I.
Integrated Diagnosis Project for Inflammatory Myopathies: An association between autoantibodies and muscle pathology.
Autoimmun Rev. 2017 Jul;16(7):693-700. Epub 2017 May 4. Review.

2017-05-01

原著

Mizuguchi Y, Hatakeyama H, Sueoka K, Tanaka M, Goto Y.
Low dose resveratrol ameloorates mitochondrial respiratory dysfunction and enhances cellular reprogramming.
Mitochondrion. 2017 May;34:43-48.

2017-04-25

学会発表

[国際学会]
Noguchi S, Yonekawa T, Malicdan MC, Miyakawa M, Lach-Trifilieff E, Nonaka I, Nishino I: Muscle Growth by Activin Type II Receptor Blocking Ameliorates Weakness in GNE Myopathy Mice. ASBMB ANNUAL MEETING/ Experimental Biology 2017, Chicago, USA, 4.25, 2017

2017-04-24

学会発表

[国際学会]
Miyakawa M, Cho A, Malicdan MC, Nishino I, Noguchi S: S-Nitrosylation Is Responsible for Muscle Atrophy and Weakness in GNE Myopathy. ASBMB ANNUAL MEETING/ Experimental Biology 2017, Chicago, USA, 4.24, 2017

2017-04-07

総説・著書

[著書]
後藤雄一：精神神経遺伝カウンセリングの実際（ケーススタディ）ミトコンドリア病. メディカル・ドゥ, 169-174, 2017