2017-09-08

原著

Ishiyama A, Sakai C, Matsushima Y, Noguchi S, Mitsuhashi S, Endo Y, Hayashi YK, Saito Y, Nakagawa E, Komaki H, Sugai K, Sasaki M, Sato N, Nonaka I, Goto YI, Nishino I.
IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy.
Neurol Genet. 2017 Sep 8;3(5):e184.

2017-09-02

原著

Nagata Y, Bundo M, Sugiura S, Kamita M, Ono M, Hattori K, Yoshida S, Goto YI, Urakami K, Niida S.
PTPRQ as a potential biomarker for idiopathic normal pressure hydrocephalus.
Mol Med Rep. 2017 Sep;16(3):3034-3040.

2017-09-01

原著

Yoon HS, Hattori K, Ogawa S, Sasayama D, Ota M, Teraishi T, Kunugi H.
Relationships of Cerebrospinal Fluid Monoamine Metabolite Levels With Clinical Variables in Major Depressive Disorder.
J Clin Psychiatry. 2017 Sep/Oct;78(8):e947-e956.

2017-09-01

原著

Liang WC, Lin YF, Liu TY, Chang SC, Chen BH, Nishino I, Jong YJ.
Neurite growth could be impaired by ETFDH mutation but restored by mitochondrial cofactors.
Muscle Nerve. 2017 Sep;56(3):479-485.

2017-08-31

原著

Okubo M, Goto K, Komaki H, Nakamura H, Mori-Yoshimura M, Hayashi YK, Mitsuhashi S, Noguchi S, Kimura E, Nishino I.
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
Orphanet J Rare Dis. 2017 Aug 31;12(1):149.

2017-08-15

原著

Cho A, Malicdan MCV, Miyakawa M, Nonaka I, Nishino I, Noguchi S.
Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy.
Hum Mol Genet. 2017 Aug 15;26(16):3081-3093.

2017-08-05

学会発表

[一般学会]
林晋一郎: 骨格筋の再生・発生における新規分化制御機構. 第3回日本筋学会学術集会,小平, 8.5, 2017

2017-08-04

学会発表

[一般学会]
宮川美保, 米川貴博, Malicdan MC, Lach-Trifilieff E, 埜中征哉, 西野一三, 野口悟: Activin type II 受容体阻害による筋成長はGNEミオパチーマウスの筋力低下を抑制する. 第3回日本筋学会学術集会, 小平, 8.4, 2017

2017-08-04

学会発表

[一般学会]
野口悟: 遺伝性筋疾患の新たな原因遺伝子の探索と変異機能解析. 第3回日本筋学会学術集会, 小平, 8.4, 2017

2017-08-04

原著

Ishiwata S, Hattori K, Sasayama D, Teraishi T, Miyakawa T, Yokota Y, Matsumura R, Yoshida F, Nishikawa T, Kunugi H.
Plasma and cerebrospinal fluid G72 protein levels in schizophrenia and major depressive disorder.
Psychiatry Res. 2017 Aug;254:244-250.