A novel homoplasmic mitochondrial DNA mutation (m.13376T>C, p.I347T) of MELAS presenting characteristic medial temporal lobe atrophy

Ryo Sasaki; Yasuyuki Ohta; Noriko Hatanaka; Koh Tadokoro; Emi Nomura; Jingwei Shang; Mami Takemoto; Nozomi Hishikawa; Toru Yamashita; Yosio Omote; Eisaku Morimoto; Sanae Teshigawara; Jun Wada; Yu ichi Goto; Koji Abe

doi:10.1016/j.jns.2019.116460

A novel homoplasmic mitochondrial DNA mutation (m.13376T>C, p.I347T) of MELAS presenting characteristic medial temporal lobe atrophy

Ryo Sasaki, Yasuyuki Ohta, Noriko Hatanaka, Koh Tadokoro, Emi Nomura, Jingwei Shang, Mami Takemoto, Nozomi Hishikawa, Toru Yamashita, Yosio Omote, Eisaku Morimoto, Sanae Teshigawara, Jun Wada, Yu ichi Goto, Koji Abe

研究成果 › 査読

1 被引用数 (Scopus)

本文言語	English
論文番号	116460
ジャーナル	Journal of the neurological sciences
巻	408
DOI	https://doi.org/10.1016/j.jns.2019.116460
出版ステータス	Published - 1月 15 2020

ASJC Scopus subject areas

神経学
臨床神経学

文献へのアクセス

10.1016/j.jns.2019.116460

他のファイルとリンク

引用スタイル

Sasaki, R., Ohta, Y., Hatanaka, N., Tadokoro, K., Nomura, E., Shang, J., Takemoto, M., Hishikawa, N., Yamashita, T., Omote, Y., Morimoto, E., Teshigawara, S., Wada, J., Goto, Y. I., & Abe, K. (2020). A novel homoplasmic mitochondrial DNA mutation (m.13376T>C, p.I347T) of MELAS presenting characteristic medial temporal lobe atrophy. Journal of the neurological sciences, 408, [116460]. https://doi.org/10.1016/j.jns.2019.116460

Sasaki, R, Ohta, Y, Hatanaka, N, Tadokoro, K, Nomura, E, Shang, J, Takemoto, M, Hishikawa, N, Yamashita, T, Omote, Y, Morimoto, E, Teshigawara, S, Wada, J, Goto, YI & Abe, K 2020, 'A novel homoplasmic mitochondrial DNA mutation (m.13376T>C, p.I347T) of MELAS presenting characteristic medial temporal lobe atrophy', Journal of the neurological sciences, vol. 408, 116460. https://doi.org/10.1016/j.jns.2019.116460

@article{ddf043d505f54dfe93ce5d3d63726999,

title = "A novel homoplasmic mitochondrial DNA mutation (m.13376T>C, p.I347T) of MELAS presenting characteristic medial temporal lobe atrophy",

keywords = "MELAS, brain atrophy, medial temporal lobe, mtDNA, mutation",

author = "Ryo Sasaki and Yasuyuki Ohta and Noriko Hatanaka and Koh Tadokoro and Emi Nomura and Jingwei Shang and Mami Takemoto and Nozomi Hishikawa and Toru Yamashita and Yosio Omote and Eisaku Morimoto and Sanae Teshigawara and Jun Wada and Goto, {Yu ichi} and Koji Abe",

note = "Funding Information: We appreciate the cooperation of the patients. This work was partly supported by Grants-in-Aid for Scientific Research (B) 17H0419619 , (C) 15K0931607 , 17H0419619 and 17K1082709 , and by Grants-in-Aid from the Research Committees (Kaji R, Toba K, and Tsuji S) of the Japan Agency for Medical Research and Development (AMED).",

year = "2020",

month = jan,

day = "15",

doi = "10.1016/j.jns.2019.116460",

language = "English",

volume = "408",

journal = "Journal of the Neurological Sciences",

issn = "0022-510X",

publisher = "Elsevier",

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TY - JOUR

T1 - A novel homoplasmic mitochondrial DNA mutation (m.13376T>C, p.I347T) of MELAS presenting characteristic medial temporal lobe atrophy

AU - Sasaki, Ryo

AU - Ohta, Yasuyuki

AU - Hatanaka, Noriko

AU - Tadokoro, Koh

AU - Nomura, Emi

AU - Shang, Jingwei

AU - Takemoto, Mami

AU - Hishikawa, Nozomi

AU - Yamashita, Toru

AU - Omote, Yosio

AU - Morimoto, Eisaku

AU - Teshigawara, Sanae

AU - Wada, Jun

AU - Goto, Yu ichi

AU - Abe, Koji

N1 - Funding Information: We appreciate the cooperation of the patients. This work was partly supported by Grants-in-Aid for Scientific Research (B) 17H0419619 , (C) 15K0931607 , 17H0419619 and 17K1082709 , and by Grants-in-Aid from the Research Committees (Kaji R, Toba K, and Tsuji S) of the Japan Agency for Medical Research and Development (AMED).

PY - 2020/1/15

Y1 - 2020/1/15

KW - MELAS

KW - brain atrophy

KW - medial temporal lobe

KW - mtDNA

KW - mutation

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U2 - 10.1016/j.jns.2019.116460

DO - 10.1016/j.jns.2019.116460

M3 - Letter

C2 - 31689606

AN - SCOPUS:85074230165

SN - 0022-510X

VL - 408

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

M1 - 116460

ER -