2016-11-22

原著

Lee JM, Noguchi S.
Calcium Dyshomeostasis in Tubular Aggregate Myopathy.
Int J Mol Sci. 2016 Nov 22;17(11): E1952.

2016-11-18

原著

Matsuoka T, Miwa Y, Tajika M, Sawada M, Fujimaki K, Soga T, Tomita H, Uemura S, Nishino I, Fukuda T, Sugie H, Kosuga M, Okuyama T, Umeda Y.
Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state.
Mol Genet Metab Rep. 2016 Nov 18;9:98-105.

2016-11-08

原著

Suzuki N, Mori-Yoshimura M, Yamashita S, Nakano S, Murata KY, Inamori Y, Matsui N, Kimura E, Kusaka H, Kondo T, Higuchi I, Kaji R, Tateyama M, Izumi R, Ono H, Kato M, Warita H, Takahashi T, Nishino I, Aoki M.
Multicenter questionnaire survey for sporadic inclusion body myositis in Japan.
Orphanet J Rare Dis. 2016 Nov 8;11(1):146.

2016-11-05

学会発表

[国際学会]
Hamanaka K, Mitsuhashi S, Goto K, Arai M, Oda A, Noguchi S, Nishino I: FSHD1 carrying 5-10 D4Z4 repeats and FSHD2 are disease spectrum. FSH Society Facioscapulohueral Muscular Dystrophy [FSHD] 2016 International Research Consortium & Research Planning Meetings, Boston, USA, 11.5, 2016

2016-11-03

原著

Ota M, Hori H, Sato N, Yoshida F, Hattori K, Teraishi T, Kunugi H.
Effects of ankyrin 3 gene risk variants on brain structures in patients with bipolar disorder and healthy subjects.
Psychiatry Clin Neurosci. 2016 Nov;70(11):498-506.

2016-11-02

原著

Zaha K, Matsumoto H, Itoh M, Saitsu H, Kato K, Kato M, Ogata S, Murayama K, Kishita Y, Mizuno Y, Kohda M, Nishino I, Ohtake A, Okazaki Y, Matsumoto N, Nonoyama S.
DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst.
Clin Genet. 2016 Nov;90(5):472-474.

2016-11-01

原著

Ohnuki Y, Suzuki S, Shiina T, Uruha A, Watanabe Y, Suzuki S, Izumi S, Nakahara J, Hamanaka K, Takayama K, Suzuki N, Nishino I.
HLA-DRB1 alleles in immune-mediated necrotizing myopathy.
Neurology. 2016 Nov 1;87(18):1954-1955.

2016-10-31

学会発表

[国際学会]
Goto Y: Overview -mtDNA medicine. The 13th Conference of Asian Society for Mitoxhonrial Research and Medicine (ASMRM) Tokyo, Japan, 10.31,2016

2016-10-14

学会発表

[特別講演・シンポジウム]
Nishino I: Pathology of IMNM- The Japan experience. 224th ENMC International Workshop: Clinicopathological classification of immune-mediated necrotising myopathies. Naarden, Netherlands, 10.14, 2016

2016-10-08

原著

Watanabe Y, Uruha A, Suzuki S, Nakahara J, Hamanaka K, Takayama K, Suzuki N, Nishino I.
Clinical features and prognosis in anti-SRP and anti-HMGCR necrotising myopathy.
J Neurol Neurosurg Psychiatry. 2016 Oct;87(10):1038-1044.