2017-01-12

原著

Yokota M, Hatakeyama H, Ono Y, Kanazawa M, Goto Y.
Mitochondrial respiratory dysfunctjon disturbs neuronal and cardiac lineage commitment of human iPSCs.
Cell Death Dis. 2017 Jan 12;8(1):e2551

2017-01-10

原著

Mukai M, Nagata E, Mizuma A, Yamano M, Sugaya K, Nishino I, Goto YI, Takizawa S.
Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like Encephalopathy Diagnosed Based on the Complete Sequencing of Mitochondrial DNA Extracted from Biopsied Muscle without any Myopathic Changes.
Intern Med. 2017 Jan; 56(1):95-99.

2017-01-09

原著

Tanaka T, Suzuki S, Nishino I, Hamaguchi Y, Fujimoto T.
What is the third serological marker associated with immune-mediated necrotizing myopathy?
Scand J Rheumatol.2017 Sep;46(5):416-417. Epub 2017 Jan 9.

2017-01-07

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.
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.

2017-01-06

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