Clinical and genetic investigation of 17 Japanese patients with hyperekplexia

Mine Jun; Taketani Takeshi; Yoshida Kazushi; Yokochi Fusako; Kobayashi Junpei; Maruyama Koichi; Nanishi Etsuro; Ono Mayumi; Yokoyama Atsushi; Arai Hidee; Tamaura Shiho; Suzuki Yasuhiro; Otsubo Shusuke; Hayashi Takashi; Kimura Masahiko; Kishi Kazuko; Yamaguchi Seiji

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Clinical and genetic investigation of 17 Japanese patients with hyperekplexia

机译：17例日本高发性高血压患者的临床和基因研究

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摘要

AimThe aim of the study was to determine clinical and genetic characteristics of Japanese patients with hyperekplexia.

机译：目的这项研究的目的是确定日本患有重性肌无力的患者的临床和遗传特征。

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《Developmental Medicine and Child Neurology 》 |2015年第4期| 共6页
作者
Mine Jun; Taketani Takeshi; Yoshida Kazushi; Yokochi Fusako; Kobayashi Junpei; Maruyama Koichi; Nanishi Etsuro; Ono Mayumi; Yokoyama Atsushi; Arai Hidee; Tamaura Shiho; Suzuki Yasuhiro; Otsubo Shusuke; Hayashi Takashi; Kimura Masahiko; Kishi Kazuko; Yamaguchi Seiji;
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中图分类神经病学 ;
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1. Clinical and genetic investigation of 17 Japanese patients with hyperekplexia [J] . Mine Jun, Taketani Takeshi, Yoshida Kazushi, Developmental Medicine and Child Neurology . 2015 ,第4期

机译：17例日本高发性高血压患者的临床和基因研究
2. Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism [J] . TatsushiTanaka, KoheiAoyama, AtsushiSuzuki, Journal of pediatric endocrinology & metabolism: JPEM . 2020 ,第6期

机译：136名日本甲状腺功能亢进患者的临床和遗传调查
3. IMAGe syndrome: Clinical and genetic implications based on investigations in three Japanese patients [J] . KatoF., HamajimaT., HasegawaT., Clinical Endocrinology . 2014 ,第5期

机译：图像综合征：基于三个日本患者调查的临床和遗传影响
4. The clinical evaluation of the Endeavor zotarolimus-eluting coronary stent in Japanese patients: Final 5-year follow-up of the Endeavor Japan study [C] . Saito S. International Congress on Coronary Artery Disease. . 2013

机译：日本患者促进Zotarolimus洗脱冠军支架的临床评价：最后5年的日本研究
5. Walking in your patient's shoes: An investigation of genetic counselor empathy in clinical practice. [D] . Kao, Juihsien H. 2010

机译：穿上鞋子：对遗传咨询师同理心的临床调查。
6. Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene [O] . Haitian Nan, Ryusuke Takaki, Keisuke Shimozono, 2019

机译：首例日本FTDP-17患者MAPT基因中内含子10突变+3的临床和遗传学研究
7. Clinical and genetic investigation of 17 Japanese patients with hyperekplexia [O] . Jun Mine, Takeshi Taketani, Kazushi Yoshida, 2014

机译：17例日本综合症患者的临床和遗传调查

Clinical and genetic investigation of 17 Japanese patients with hyperekplexia

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