2017-02-02

原著

Inui T, Anzai M, Takezawa Y, Endo W, Kakisaka Y, Kikuchi A, Onuma A, Kure S, Nishino I, Ohba C, Saitsu H, Matsumoto N, Haginoya K.
A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.
J Hum Genet. 2017 Jun;62(6):653-655. Epub 2017 Feb 2.

2017-02-02

原著

Munteanu I, Kalimo H, Saraste A, Nishino I, Minassian BA.
Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy.
Neuromuscul Disord. 2017 Feb;27(2):185-187.

2017-02-01

原著

Nakamura K, Hamaguchi T, Sakai K, Noto D, Ono K, Hayashi YK, Nishino I, Yamada M.
Granuloma formation in a patient with GNE myopathy: A case report.
Neuromuscul Disord. 2017 Feb;27(2):183-184.

2017-01-31

原著

Uruha A, Nishikawa A, Tsuburaya RS, Hamanaka K, Kuwana M, Watanabe Y, Suzuki S, Suzuki N, Nishino I.
Sarcoplasmic MxA expression: A valuable marker of dermatomyositis.
Neurology. 2017 Jan 31;88(5):493-500.

2017-01-18

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.

2017-01-12

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.

2017-01-12

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.