2015-04-28

原著

Endo Y, Noguchi S, Hara Y, Hayashi YK, Motomura K, Miyatake S, Murakami N, Tanaka S, Yamashita S, Kizu R, Bamba M, Goto YI, Matsumoto N, Nonaka I, Nishino I.
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels.
Hum Mol Genet. 2015 Feb 1;24(3):637-648.

2015-04-27

原著

Ohsawa N, Koebis M, Mitsuhashi H, Nishino I, Ishiura S.
ABLIM1 splicin g is abnormal in skeletal muscle of patients with DM1 and regulated by MBNL, CELF and PTBP1.
Genes Cells. 2015 Feb;20(2):121-134.

2015-04-26

原著

Endo Y, Furuta A, Nishino I. .
Danon disease: a phenotypic expression of LAMP-2 deficiency.
Acta Neuropathol. 2015 Mar;129(3):391-398.

2015-04-25

原著

Yonekawa T , Nishino I.
Ullrich congen ital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).
J Neurol Neurosurg Psychiatry. 2015 Mar;86(3):280-287.

2015-04-24

原著

Sanmaneechai O, Likasitwattanakul S, Sangruchi T, Nishino I.
Ophthalmoplegi a in congenital neuromuscular disease with uniform type 1 fiber.
Brain Dev. 2015 Apr;37(4):459-462.

2015-04-23

原著

Nishino I, Carrillo-Carrasco N, Argov Z.
GNE myopathy: current update and future therapy.
J Neurol Neurosurg Psychiatry. 2015 Apr;86(4):385-392.

2015-04-22

原著

Uruha A, Hayashi YK, Oya Y, Mori -Yoshimura M, Kanai M, Murata M, Kawamura M, Ogata K, Matsumura T, Suzuki S, Takahashi Y, Kondo T, Kawarabayashi T, Ishii Y, Kokubun N, Yokoi S, Yasuda R, Kira JI, Mitsuhashi S, Noguchi S, Nonaka I, Nishino I.
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.
J Neurol Neurosurg Psychiatry. 2015 Apr;86(5): 483-489.

2015-04-21

総説・著書

[著書]
大久保真理子，西野一三：筋疾患の診断手順と遺伝子検査．続・イメージからせまる小児神経疾患 －症例から学ぶ 診断・治療プロセス－(監修：後藤知英，林　雅晴，画像監修：豊田圭子，編集：日本小児神経学会), 診断と治療社，東京，pp15-18, 2015

2015-04-21

原著

Puppo F, Dionnet E, Gaillard MC, Gaildrat P, Castro C, Vovan C, Karine B, Bernard R, Attarian S, Goto K, Nishino I, Hayashi YK, Magdinier F, Krahn M, Helmbacher F, Bartoli M, Lévy N.
Identification of variants in the 4q35 gene FAT1 in patients with a Facioscapulohumeral dystrophy (FSHD)-like phenotype.
Hum Mutat. 2015 Apr;36(4):443-453.

2015-04-20

総説・著書

[総説]
漆葉章典：早期呼吸不全を伴う遺伝性ミオパチー(HMERF)．骨格筋症候群(第2版)－その他の神経筋疾患を含めて－別冊日本臨牀 新領域別症候群シリーズ．(32): 460-463, 2015