2018-04-01

総説・著書

[総説]
後藤雄一：ミトコンドリア病．小児科診療．81(1):93-97, 2018

2018-04-01

原著

Mori-Yoshimura M, Mitsuhashi S, Nakamura H, Komaki H, Goto K, Yonemoto N, Takeuchi F, Hayashi YK, Murata M, Takahashi Y, Nishino I, Takeda S, Kimura E.
Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clinical Variation.
J Neuromuscul Dis. 2018;5(2):193-203.

2018-03-15

原著

Kubota A, Ishiura H, Mitsui J, Sakuishi K, Iwata A, Yamamoto T, Nishino I, Tsuji S, Shimizu J.
A Homozygous LAMA2 Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese patient.
Intern Med. 2018 Mar 15;57(6):877-882.

2018-03-04

原著

Ishii T, Hattori K, Miyakawa T, Watanabe K, Hidese S, Sasayama D, Ota M, Teraishi T, Hori H, Yoshida S, Nunomura A, Nakagome K, Kunugi H.
Increased cerebrospinal fluid complement C5 levels in major depressive disorder and schizophrenia.
Biochem Biophys Res Commun. 2018 Mar 4;497(2):683-688.

2018-03-03

原著

Matsubara S, Bokuda K, Asano Y, Morishima R, Sugaya K, Miyamoto K, Koide R, Komori T, Suzuki S, Nishino I.
Mitophagy in three cases of immune-mediated necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase autoantibodies: ultrastructural and immunohistochemical studies.
Neuromuscul Disord. 2018 Mar;28(3):283-288.

2018-03-02

原著

Hatazawa Y, Ono Y, Hirose Y, Kanai S, Fujii NL, Machida S, Nishino I, Shimizu T, Okano M, Kamei Y, Ogawa Y.
Reduced Dnmt3a increases Gdf5 expression with suppressed satellite cell differentiation and impaired skeletal muscle regeneration.
FASEB J. 2018 Mar;32(3):1452-1467.

2018-03-01

原著

Kageyama Y, Kasahara T, Nakamura T, Hattori K, Deguchi Y, Tani M, Kuroda K, Yoshida S, Goto YI, Inoue K, Kato T.
Plasma Nervonic Acid Is a Potential Biomarker for Major Depressive Disorder: A Pilot Study.
Int J Neuropsychopharmacol. 2018 Mar 1;21(3):207-215.

2018-03-01

原著

Thavorntanaburt S, Tanboon J, Likasitwattanakul S, Sangruchi T, Nishino I, Ngerncham M, Tantemsapya N, Sanmaneechai O.
Impact of muscle biopsy on diagnosis and management of children with neuromuscular diseases: A 10-year retrospective critical review.
J Pediatr Surg. 2018 Mar;53(3):489-492.

2018-02-20

原著

Nguyen HT, Noguchi S, Sugie K, Matsuo Y, Nguyen CTH, Koito H, Shiojima I, Nishino I, Tsukaguchi H.
Small-Vessel Vasculopathy Due to Aberrant Autophagy in LAMP-2 Deficiency.
Sci Rep. 2018 Feb 20;8(1):3326.

2018-02-02

原著

Zhu W, Eto M, Mitsuhashi S, Takata K, Beck G, Sumi-Akamaru H, Mochizuki H, Sakoda S, Takahashi MP, Nishino I.
GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing.
Neuromuscul Disord. 2018 Feb;28(2):154-157.