STIM1の新規変異は細管集合体ミオパチーにおけるCa2+ホメオスタシスの調節不全を引き起こす(Novel mutation of STIM1 causes dysregulation of Ca2+ homeostasis in tubular aggregate myopathy)

Saito Fumiaki; Okuma Hidehiko; Hara Yuji; Mitsui Jun; Hatanaka Yuki; Hagiwara Hiroki; Masaki Toshihiro; Shimizu Teruo; Shimizu Jun; Tsuji Shoji; Matsumura Kiichiro; Sonoo Masahiro

STIM1の新規変異は細管集合体ミオパチーにおけるCa2+ホメオスタシスの調節不全を引き起こす(Novel mutation of STIM1 causes dysregulation of Ca2+ homeostasis in tubular aggregate myopathy)

Saito Fumiaki
, Okuma Hidehiko
, Hara Yuji
, Mitsui Jun
, Hatanaka Yuki
, Hagiwara Hiroki
, Masaki Toshihiro
, Shimizu Teruo
, Shimizu Jun
, Tsuji Shoji
, Matsumura Kiichiro
, Sonoo Masahiro

Research output: Contribution to journal › Conference article › peer-review

Original language	American English
Pages (from-to)	S303
Journal	Rinsho shinkeigaku = Clinical neurology
Volume	56
Issue number	Suppl.
State	Published - Dec 2016

Keywords

Calcium Channels
変異
ホメオスタシス
*筋障害-先天性構造性(遺伝学)
*Stromal Interaction Molecule 1
ヒト

Cite this

Fumiaki, S., Hidehiko, O., Yuji, H., Jun, M., Yuki, H., Hiroki, H., Toshihiro, M., Teruo, S., Jun, S., Shoji, T., Kiichiro, M., & Masahiro, S. (2016). STIM1の新規変異は細管集合体ミオパチーにおけるCa2+ホメオスタシスの調節不全を引き起こす(Novel mutation of STIM1 causes dysregulation of Ca2+ homeostasis in tubular aggregate myopathy). Rinsho shinkeigaku = Clinical neurology, 56(Suppl.), S303.

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title = "STIM1の新規変異は細管集合体ミオパチーにおけるCa2+ホメオスタシスの調節不全を引き起こす(Novel mutation of STIM1 causes dysregulation of Ca2+ homeostasis in tubular aggregate myopathy)",

keywords = "Calcium Channels, 変異, ホメオスタシス, *筋障害-先天性構造性(遺伝学), *Stromal Interaction Molecule 1, ヒト",

author = "Saito Fumiaki and Okuma Hidehiko and Hara Yuji and Mitsui Jun and Hatanaka Yuki and Hagiwara Hiroki and Masaki Toshihiro and Shimizu Teruo and Shimizu Jun and Tsuji Shoji and Matsumura Kiichiro and Sonoo Masahiro",

year = "2016",

month = dec,

language = "American English",

volume = "56",

pages = "S303",

journal = "Rinsho shinkeigaku = Clinical neurology",

issn = "0009-918X",

number = "Suppl.",

}

Fumiaki, S, Hidehiko, O, Yuji, H, Jun, M, Yuki, H, Hiroki, H, Toshihiro, M, Teruo, S, Jun, S, Shoji, T, Kiichiro, M & Masahiro, S 2016, 'STIM1の新規変異は細管集合体ミオパチーにおけるCa2+ホメオスタシスの調節不全を引き起こす(Novel mutation of STIM1 causes dysregulation of Ca2+ homeostasis in tubular aggregate myopathy)', Rinsho shinkeigaku = Clinical neurology, vol. 56, no. Suppl., pp. S303.

STIM1の新規変異は細管集合体ミオパチーにおけるCa2+ホメオスタシスの調節不全を引き起こす(Novel mutation of STIM1 causes dysregulation of Ca2+ homeostasis in tubular aggregate myopathy). / Fumiaki, Saito; Hidehiko, Okuma; Yuji, Hara et al.
In: Rinsho shinkeigaku = Clinical neurology, Vol. 56, No. Suppl., 12.2016, p. S303.

Research output: Contribution to journal › Conference article › peer-review

TY - JOUR

T1 - STIM1の新規変異は細管集合体ミオパチーにおけるCa2+ホメオスタシスの調節不全を引き起こす(Novel mutation of STIM1 causes dysregulation of Ca2+ homeostasis in tubular aggregate myopathy)

AU - Fumiaki, Saito

AU - Hidehiko, Okuma

AU - Yuji, Hara

AU - Jun, Mitsui

AU - Yuki, Hatanaka

AU - Hiroki, Hagiwara

AU - Toshihiro, Masaki

AU - Teruo, Shimizu

AU - Jun, Shimizu

AU - Shoji, Tsuji

AU - Kiichiro, Matsumura

AU - Masahiro, Sonoo

PY - 2016/12

Y1 - 2016/12

KW - Calcium Channels

KW - 変異

KW - ホメオスタシス

KW - 筋障害-先天性構造性(遺伝学)

KW - Stromal Interaction Molecule 1

KW - ヒト

M3 - Conference article

SN - 0009-918X

VL - 56

SP - S303

JO - Rinsho shinkeigaku = Clinical neurology

JF - Rinsho shinkeigaku = Clinical neurology

IS - Suppl.

ER -