An AOA2 patient with a novel compound heterozygous SETX frame shift mutations

Emi Motokura; Toru Yamashita; Yoshiaki Takahashi; Keiichiro Tsunoda; Kota Sato; Mami Takemoto; Nozomi Hishikawa; Yasuyuki Ohta; Akihiro Hashiguchi; Hiroshi Takashima; Koji Abe

doi:10.1016/j.jns.2016.11.074

An AOA2 patient with a novel compound heterozygous SETX frame shift mutations

Emi Motokura
, Toru Yamashita
, Yoshiaki Takahashi
, Keiichiro Tsunoda
, Kota Sato
, Mami Takemoto
, Nozomi Hishikawa
, Yasuyuki Ohta
, Akihiro Hashiguchi
, Hiroshi Takashima
, Koji Abe

研究成果 › 査読

本文言語	English
ページ（範囲）	294-296
ページ数	3
ジャーナル	Journal of the neurological sciences
巻	372
DOI	https://doi.org/10.1016/j.jns.2016.11.074
出版ステータス	Published - 1月 15 2017

ASJC Scopus subject areas

神経学
臨床神経学

文献へのアクセス

10.1016/j.jns.2016.11.074

他のファイルとリンク

引用スタイル

@article{138a168108594de9b449bcb45acaaeb2,

title = "An AOA2 patient with a novel compound heterozygous SETX frame shift mutations",

keywords = "AOA2, Compound heterozygote, Frame shift mutation, SETX",

author = "Emi Motokura and Toru Yamashita and Yoshiaki Takahashi and Keiichiro Tsunoda and Kota Sato and Mami Takemoto and Nozomi Hishikawa and Yasuyuki Ohta and Akihiro Hashiguchi and Hiroshi Takashima and Koji Abe",

note = "Funding Information: We appreciate the cooperation of the patient. This work was partly supported by Grant-in-Aid for Scientific Research (B) 25293202 , (C) 15K09316 and Challenging Research 15K15527 and Young Research 15K21181 , and by Grants-in-Aid from the Research Committees (Mizusawa H, Nakashima K, Nishizawa M, Sasaki H, and Aoki M) from the Ministry of Health, Labour and Welfare of Japan. Copyright: Copyright 2017 Elsevier B.V., All rights reserved.",

year = "2017",

month = jan,

day = "15",

doi = "10.1016/j.jns.2016.11.074",

language = "English",

volume = "372",

pages = "294--296",

journal = "Journal of the neurological sciences",

issn = "0022-510X",

publisher = "Elsevier B.V.",

}

TY - JOUR

T1 - An AOA2 patient with a novel compound heterozygous SETX frame shift mutations

AU - Motokura, Emi

AU - Yamashita, Toru

AU - Takahashi, Yoshiaki

AU - Tsunoda, Keiichiro

AU - Sato, Kota

AU - Takemoto, Mami

AU - Hishikawa, Nozomi

AU - Ohta, Yasuyuki

AU - Hashiguchi, Akihiro

AU - Takashima, Hiroshi

AU - Abe, Koji

N1 - Funding Information: We appreciate the cooperation of the patient. This work was partly supported by Grant-in-Aid for Scientific Research (B) 25293202 , (C) 15K09316 and Challenging Research 15K15527 and Young Research 15K21181 , and by Grants-in-Aid from the Research Committees (Mizusawa H, Nakashima K, Nishizawa M, Sasaki H, and Aoki M) from the Ministry of Health, Labour and Welfare of Japan. Copyright: Copyright 2017 Elsevier B.V., All rights reserved.

PY - 2017/1/15

Y1 - 2017/1/15

KW - AOA2

KW - Compound heterozygote

KW - Frame shift mutation

KW - SETX

UR - https://www.scopus.com/pages/publications/85002134608

UR - https://www.scopus.com/pages/publications/85002134608#tab=citedBy

U2 - 10.1016/j.jns.2016.11.074

DO - 10.1016/j.jns.2016.11.074

M3 - Letter

C2 - 28017231

AN - SCOPUS:85002134608

SN - 0022-510X

VL - 372

SP - 294

EP - 296

JO - Journal of the neurological sciences

JF - Journal of the neurological sciences

ER -