日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Mexiletine prevents transient heart failure in a polymicrogyria child with an ATP1A3 variant: a case report

美西律可预防伴有 ATP1A3 变异的多小脑回畸形患儿的短暂性心力衰竭:病例报告

Aida, Mai; Ozawa, Junichi; Takahashi, Yuya; Miyatake, Satoko; Watanabe, Kenichi

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay

基因组测序能够提供高诊断率,并为智力障碍和发育迟缓的病因学研究提供新的见解。

Hamanaka, Kohei; Fujita, Atsushi; Miyatake, Satoko; Misawa, Kazuharu; Koshimizu, Eriko; Uchiyama, Yuri; Tsuchida, Naomi; Seyama, Rie; Sakamoto, Masamune; Iwama, Kazuhiro; Nishimura, Naoto; Utsuno, Yasuhiro; Fu, Li; Takizawa, Marina; Liang, Qiaowei; Itai, Toshiyuki; Saida, Ken; Ohori, Sachiko; Kameyama, Shinichi; Fukuda, Hiromi; Hayashi, Yukina; Inoue, Yuta; Goto, Tomohide; Ichikawa, Kazushi; Kuki, Ichiro; Fukuoka, Masataka; Kim, Kiyohiro; Shiohama, Tadashi; Shimoda, Konomi; Otsuka, Kosuke; Ueda, Yuki; Cho, Kazutoshi; Yuge, Kotaro; Tachi, Nobutada; Yoshida, Masaki; Daida, Atsuro; Hirasawa, Kyoko; Yanagishita, Tomoe; Yamamoto, Toshiyuki; Shirai, Kentaro; Mehr, Tammar Fixler; Fattal-Valevski, Aviva; Lev, Dorit; Yokoyama, Haruna; Iwabuchi, Emi; Saito, Yoshihiko; Miura, Masaki; Sugai, Kenji; Ishiyama, Akihiko; Sasaki, Masayuki; Watanabe, Yoshihiro; Takanashi, Jun-Ichi; Kim, Chong Ae; Yokochi, Kenji; Tohyama, Jun; Mori, Tatsuo; Izumi, Yuishin; Hasegawa, Yuiko; Okamoto, Nobuhiko; Ikeda, Takahiro; Osaka, Hitoshi; Kawai, Yosuke; Omae, Yosuke; Tokunaga, Katsushi; Kato, Mitsuhiro; Mizuguchi, Takeshi; Matsumoto, Naomichi

Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature

基于纳米孔测序的表观遗传标记在Sotos综合征诊断中的应用价值

Mizuguchi, Takeshi; Okamoto, Nobuhiko; Hara, Taiki; Nishimura, Naoto; Sakamoto, Masamune; Fu, Li; Uchiyama, Yuri; Tsuchida, Naomi; Hamanaka, Kohei; Koshimizu, Eriko; Fujita, Atsushi; Misawa, Kazuharu; Nakabayashi, Kazuhiko; Miyatake, Satoko; Matsumoto, Naomichi

KNTC1 introduces segmental heterogeneity to mitochondria.

KNTC1 使线粒体产生节段异质性

Tsukamura Atsushi, Ariyama Hirotaka, Hayashi Natsuki, Miyatake Satoko, Okado Satoko, Sultana Sara, Terakado Ichiro, Yamamoto Takefumi, Yamanaka Shoji, Fujii Satoshi, Hamanoue Haruka, Asano Ryoko, Mizushima Taichi, Matsumoto Naomichi, Maruo Yoshihiro, Mori Masaki

Non-coding repeat analyses in patients with Parkinson's disease

帕金森病患者的非编码重复序列分析

Hirano, Makito; Samukawa, Makoto; Miyatake, Satoko; Yamagishi, Yuko; Isono, Chiharu; Yoshikawa, Rino; Saigoh, Kazumasa; Terayama, Atsushi; Higashimoto, Yuji; Koshimizu, Eriko; Mizuguchi, Takeshi; Fujii, Kanako; Mitsui, Yoshiyuki; Matsumoto, Naomichi; Nagai, Yoshitaka

A practical framework for predicting splicing single nucleotide variants in exome sequencing

用于预测外显子组测序中剪接单核苷酸变异的实用框架

Utsuno, Yasuhiro; Hamanaka, Kohei; Sakamoto, Masamune; Tsuchida, Naomi; Uchiyama, Yuri; Koshimizu, Eriko; Fujita, Atsushi; Miyatake, Satoko; Mizuguchi, Takeshi; Matsumoto, Naomichi

ACNP 63rd Annual Meeting: Keyword Index

ACNP 第 63 届年会:关键词索引

Miyake, Noriko; Tsurusaki, Yoshinori; Fukai, Ryoko; Kushima, Itaru; Okamoto, Nobuhiko; Ohashi, Kei; Nakamura, Kazuhiko; Hashimoto, Ryota; Hiraki, Yoko; Son, Shuraku; Kato, Mitsuhiro; Sakai, Yasunari; Osaka, Hitoshi; Deguchi, Kimiko; Matsuishi, Toyojiro; Takeshita, Saoko; Fattal-Valevski, Aviva; Ekhilevitch, Nina; Tohyama, Jun; Yap, Patrick; Keng, Wee Teik; Kobayashi, Hiroshi; Takubo, Keiyo; Okada, Takashi; Saitoh, Shinji; Yasuda, Yuka; Murai, Toshiya; Nakamura, Kazuyuki; Ohga, Shouichi; Matsumoto, Ayumi; Inoue, Ken; Saikusa, Tomoko; Hershkovitz, Tova; Kobayashi, Yu; Morikawa, Mako; Ito, Aiko; Hara, Toshiro; Uno, Yota; Seiwa, Chizuru; Ishizuka, Kanako; Shirahata, Emi; Fujita, Atsushi; Koshimizu, Eriko; Miyatake, Satoko; Takata, Atsushi; Mizuguchi, Takeshi; Ozaki, Norio; Matsumoto, Naomichi

A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine-Derived Cells-Based Functional Analysis

基于尿液衍生细胞的功能分析揭示,SQSTM1基因中一种新的同义变异会导致神经退行性变,并伴有共济失调、肌张力障碍和凝视麻痹。

Masuko, Shinji; Sato, Mitsuto; Nakamura, Katsuya; Hamanaka, Kohei; Miyatake, Satoko; Inaba, Yuji; Kosho, Tomoki; Matsumoto, Naomichi; Sekijima, Yoshiki

Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report

一种与新型 MORC2 变异相关的介于 CMT2Z 和 DIGFAN 之间的中间表型:病例报告

Hanada, Kenta; Osaki, Yusuke; Miyamoto, Ryosuke; Muto, Kohei; Haji, Shotaro; Nazere, Keyoumu; Kuwano, Yuki; Morino, Hiroyuki; Azuma, Yoshiteru; Miyatake, Satoko; Matsumoto, Naomichi; Izumi, Yuishin

A Novel Mutation of VPS13D-related Disorders with Parkinsonism

一种与帕金森综合征相关的VPS13D相关疾病的新突变

Harada, Shizuka; Azuma, Yoshiteru; Misumi, Yohei; Hayashi, Hirotaka; Matsubara, Soichiro; Nakahara, Keiichi; Miyatake, Satoko; Matsumoto, Naomichi; Ueda, Mitsuharu