2018-12-01

原著

Sasaki-Honda M, Jonouchi T, Arai M, Hotta A, Mitsuhashi S, Nishino I, Matsuda R, Sakurai H.
A Patient-derived iPSC Model Revealed Oxidative Stress Increases Facioscapulohumeral Muscular Dystrophy-causative DUX4.
Hum Mol Genet. 2018 Dec 1;27(23):4024-4035

2018-11-23

原著

Hamanaka K, Miyatake S, Koshimizu E, Tsurusaki Y, Mitsuhashi S, Iwama K, Alkanaq AN, Fujita A, Imagawa E, Uchiyama Y, Tawara N, Ando Y, Misumi Y, Okubo M, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Iida A, Nishino I, Matsumoto N.
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy.
Genet Med. 2019 Jul;21(7):1629-1638. Epub 2018 Nov 23.

2018-11-22

原著

Uruha A, Allenbach Y, Charuel JL, Musset L, Aussy A, Boyer O, Mariampillai K, Landon-Cardinal O, Rasmussen C, Bolko L, Maisonobe T, Leonard-Louis S, Suzuki S, Nishino I, Stenzel W, Benveniste O.
Diagnostic potential of sarcoplasmic MxA expression in subsets of dermatomyositis.
Neuropathol Appl Neurobiol. 2019 Aug;45(5):513-522. Epub 2018 Nov 22.

2018-11-12

学会発表

[一般学会]
Hayashi S: Klf regulates myoblast differentiation and apoptosis during fetal muscle development. 第6回若手による骨格筋細胞研究会, 大阪, 11.12, 2018

2018-11-08

原著

Sugie K, Komaki H, Eura N, Shiota T, Onoue K, Tsukaguchi H, Minami N, Ogawa M, Kiriyama T, Kataoka H, Saito Y, Nonaka I, Nishino I.
A Nationwide Survey on Danon Disease in Japan.
Int J Mol Sci. 2018 Nov 8;19(11).

2018-11-07

学会発表

[国際学会]
Omori W, Hattori K, Okada-Tsuchioka M, Itagaki K. Kajitani N, Abe H, Kunugi H, Takebayashi M: Altered cerebrospinal fluid matrix metalloproteinases levels in mood disorders and schizophrenia, Society for Neuroscience Sandiego, 11.7, 2018

2018-10-17

原著

Oitani Y, Ishiyama A, Kosuga M, Iwasawa K, Ogata A, Tanaka F, Takeshita E, Shimizu-Motohashi Y, Komaki H, Nishino I, Okuyama T, Sasaki M.
Interpretation of acid α-glucosidase activity in creatine kinase elevation: A case of Becker muscular dystrophy.
Brain Dev. 2018 Oct;40(9):837-840.

2018-10-16

原著

Ishiguro K, Nakayama T, Yoshioka M, Murakami T, Kajino S, Shichiji M, Sato T, Hino-Fukuyo N, Kuru S, Osawa M, Nagata S, Okubo M, Murakami N, Hayashi YK, Nishino I, Ishigaki K.
Characteristic findings of skeletal muscle MRI in caveolinopathies.
Neuromuscul Disord. 2018 Oct;28(10):857-862.

2018-10-15

原著

Tadokoro K, Ohta Y, Sasaki R, Takahashi Y, Sato K, Shang J, Takemoto M, Hishikawa N, Yamashita T, Nakamura K, Nishino I, Abe K.
Congenital myopathy with fiber-type disproportion accompanied by dilated cardiomyopathy in a patient with a novel p.G48A ACTA1 mutation.
J Neurol Sci. 2018 Oct 15;393:142-144.

2018-10-05

学会発表

[国際学会]
Chen Y, Xi J, Zhu W, Lin J, Luo S, Yue D, Cai S, Sun C, Zhao C, Mitsuhashi S, Nishino I, Xu M, Lu J: GNE myopathy in Chinese population: hotspot and novel mutations. 23rd INTERNATIONAL CONGRESS OF THE WORLD MUSCLE SOCIETY, Mendoza, Argentina, 10.5, 2018