Literature DB >> 35402653

Neuronal Intranuclear Inclusion Disease Presenting with Voice Tremor.

Tomone Taneda1, Masato Kanazawa1, Yo Higuchi1,2, Hironori Baba3, Aiko Isami1, Masahiro Uemura1, Takuya Konno1, Arata Horii3, Takeshi Ikeuchi2, Osamu Onodera1.   

Abstract

Entities:  

Keywords:  NOTCH2NLC gene‐related repeat expansion disorder; hereditary essential tremor‐6; initial symptom; neuronal intranuclear inclusion disease; voice tremor

Year:  2021        PMID： 35402653      PMCID： PMC8974887          DOI： 10.1002/mdc3.13382

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  5 in total

1.  NOTCH2NLC GGC Repeat Expansions Are Associated with Sporadic Essential Tremor: Variable Disease Expressivity on Long-Term Follow-up.

Authors:  Adeline S L Ng; Weng Khong Lim; Zheyu Xu; Helen L Ong; Yi Jayne Tan; Wei Ying Sim; Ebonne Y L Ng; Jing Xian Teo; Jia Nee Foo; Tchoyoson C C Lim; Wai-Yung Yu; Ling-Ling Chan; Hwei-Yee Lee; Zhiyong Chen; Ee-Wei Lim; Simon K S Ting; Kumar M Prakash; Louis C S Tan; Zhao Yi; Eng-King Tan
Journal:  Ann Neurol       Date:  2020-07-16       Impact factor: 10.422

2.  Essential tremor and cerebellar dysfunction clinical and kinematic analysis of intention tremor.

Authors:  G Deuschl; R Wenzelburger; K Löffler; J Raethjen; H Stolze
Journal:  Brain       Date:  2000-08       Impact factor: 13.501

3.  Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor.

Authors:  Qi-Ying Sun; Qian Xu; Yun Tian; Zheng-Mao Hu; Li-Xia Qin; Jin-Xia Yang; Wen Huang; Jin Xue; Jin-Chen Li; Sheng Zeng; Ying Wang; Hao-Xuan Min; Xiao-Yu Chen; Jun-Pu Wang; Bin Xie; Fan Liang; Hai-Nan Zhang; Chun-Yu Wang; Li-Fang Lei; Xin-Xiang Yan; Hong-Wei Xu; Ran-Hui Duan; Kun Xia; Jing-Yu Liu; Hong Jiang; Lu Shen; Ji-Feng Guo; Bei-Sha Tang
Journal:  Brain       Date:  2020-01-01       Impact factor: 13.501

4.  Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.

Authors:  Jun Sone; Satomi Mitsuhashi; Atsushi Fujita; Takeshi Mizuguchi; Kohei Hamanaka; Keiko Mori; Haruki Koike; Akihiro Hashiguchi; Hiroshi Takashima; Hiroshi Sugiyama; Yutaka Kohno; Yoshihisa Takiyama; Kengo Maeda; Hiroshi Doi; Shigeru Koyano; Hideyuki Takeuchi; Michi Kawamoto; Nobuo Kohara; Tetsuo Ando; Toshiaki Ieda; Yasushi Kita; Norito Kokubun; Yoshio Tsuboi; Kazutaka Katoh; Yoshihiro Kino; Masahisa Katsuno; Yasushi Iwasaki; Mari Yoshida; Fumiaki Tanaka; Ikuo K Suzuki; Martin C Frith; Naomichi Matsumoto; Gen Sobue
Journal:  Nat Genet       Date:  2019-07-22       Impact factor: 38.330

5.  Clinicopathological features of adult-onset neuronal intranuclear inclusion disease.

Authors:  Jun Sone; Keiko Mori; Tomonori Inagaki; Ryu Katsumata; Shinnosuke Takagi; Satoshi Yokoi; Kunihiko Araki; Toshiyasu Kato; Tomohiko Nakamura; Haruki Koike; Hiroshi Takashima; Akihiro Hashiguchi; Yutaka Kohno; Takashi Kurashige; Masaru Kuriyama; Yoshihisa Takiyama; Mai Tsuchiya; Naoyuki Kitagawa; Michi Kawamoto; Hajime Yoshimura; Yutaka Suto; Hiroyuki Nakayasu; Naoko Uehara; Hiroshi Sugiyama; Makoto Takahashi; Norito Kokubun; Takuya Konno; Masahisa Katsuno; Fumiaki Tanaka; Yasushi Iwasaki; Mari Yoshida; Gen Sobue
Journal:  Brain       Date:  2016-10-25       Impact factor: 13.501
  5 in total

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