2017-01-06

原著

Hatakeyama H, Goto Y.
Respiratory chain complex disorganization impairs mitochondrial and cellular integrity: Phenotypic variation in cytochrome c oxidase deficiency.
Am J Pathol. 2017 Jan;187(1):110-121.

2017-01-05

原著

Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, Matsumoto N.
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.
Am J Hum Genet. 2017 Jan 5;100(1):169-178.

2017-01-01

原著

Sasayama D, Hattori K, Ogawa S, Yokota Y, Matsumura R, Teraishi T, Hori H, Ota M, Yoshida S, Kunugi H.
Genome-wide quantitative trait loci mapping of the human cerebrospinal fluid proteome.
Hum Mol Genet. 2017 Jan 1;26(1):44-51.

2016-12-30

原著

Mori-Yoshimura M, Segawa K, Minami N, Oya Y, Komaki H, Nonaka I, Nishino I, Murata M.
Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A.
Muscle Nerve. 2017 Apr;55(4):465-469. Epub 2016 Dec 30

2016-12-24

学会発表

[特別講演・シンポジウム]
Nishino I: Basic Approach to Muscle Diseases & Beyond.
16TH INTERNATIONAL NEUROLOGY UPDATE. Karachi, Pakistan, 12.24, 2016

2016-12-22

学会発表

[特別講演・シンポジウム]
Nishino I: Approach to Neuromuscular Pathology. 16TH INTERNATIONAL NEUROLOGY UPDATE. Karachi, Pakistan, 12.22, 2016

2016-12-16

原著

Setoyama D, Kato TA, Hashimoto R, Kunugi H, Hattori K, Hayakawa K, Sato-Kasai M, Shimokawa N, Kaneko S, Yoshida S, Goto YI, Yasuda Y, Yamamori H, Ohgidani M, Sagata N, Miura D, Kang D, Kanba S.
Plasma Metabolites Predict Severity of Depression and Suicidal Ideation in Psychiatric Patients-A Multicenter Pilot Analysis.
PLoS One. 2016 Dec 16;11(12):e0165267.

2016-12-10

原著

Sugie K, Yoshizawa H, Onoue K, Nakanishi Y, Eura N, Ogawa M, Nakano T, Sakaguchi Y, Hayashi YK, Kishimoto T, Shima M, Saito Y, Nishino I, Ueno S.
Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene.
Neuropathology. 2016 Dec;36(6):561-565.

2016-12-09

原著

Sugie K, Yoshizawa H, Onoue K, Nakanishi Y, Eura N, Ogawa M, Nakano T, Sakaguchi Y, Hayashi YK, Kishimoto T, Shima M, Saito Y, Nishino I, Ueno S.
Early onset of cardiomyopathy and intellectual diability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene.
Neuropathology. 2016 Dec;36(6):561-565.

2016-12-08

原著

Ikeda T, Nakahara A, Nagano R, Utoyama M, Obara M, Moritake H, Uechi T, Mitsui J, Ishiura H, Yoshimura J, Doi K, Kenmochi N, Morishita S, Nishino I, Tsuji S, Nunoi H.
TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy.
J Hum Genet. 2017 Apr;62(4):473-480. Epub 2016 Dec 8.