Literature DB >> 32516806

GGC repeat expansion in NOTCH2NLC is rare in European patients with essential tremor.

Wai Yan Yau1, Emer O'Connor1, Zhongbo Chen1,2, Jana Vandrovcova1, Nicholas W Wood3,4, Henry Houlden1,3.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2020        PMID： 32516806      PMCID： PMC7791963          DOI： 10.1093/brain/awaa144

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


× No keyword cloud information.
  12 in total

1.  Inclusion-positive cell types in adult-onset intranuclear inclusion body disease: implications for clinical diagnosis.

Authors:  Ying Liu; Maya Mimuro; Mari Yoshida; Yoshio Hashizume; Hisayoshi Niwa; Shinichi Miyao; Nobuko Ujihira; Hiroyasu Akatsu
Journal:  Acta Neuropathol       Date:  2008-10-16       Impact factor: 17.088

2.  Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.

Authors:  Hiroyuki Ishiura; Shota Shibata; Jun Yoshimura; Yuta Suzuki; Wei Qu; Koichiro Doi; M Asem Almansour; Junko Kanda Kikuchi; Makiko Taira; Jun Mitsui; Yuji Takahashi; Yaeko Ichikawa; Tatsuo Mano; Atsushi Iwata; Yasuo Harigaya; Miho Kawabe Matsukawa; Takashi Matsukawa; Masaki Tanaka; Yuichiro Shirota; Ryo Ohtomo; Hisatomo Kowa; Hidetoshi Date; Aki Mitsue; Hiroyuki Hatsuta; Satoru Morimoto; Shigeo Murayama; Yasushi Shiio; Yuko Saito; Akihiko Mitsutake; Mizuho Kawai; Takuya Sasaki; Yusuke Sugiyama; Masashi Hamada; Gaku Ohtomo; Yasuo Terao; Yoshihiko Nakazato; Akitoshi Takeda; Yoshio Sakiyama; Yumi Umeda-Kameyama; Jun Shinmi; Katsuhisa Ogata; Yutaka Kohno; Shen-Yang Lim; Ai Huey Tan; Jun Shimizu; Jun Goto; Ichizo Nishino; Tatsushi Toda; Shinichi Morishita; Shoji Tsuji
Journal:  Nat Genet       Date:  2019-07-22       Impact factor: 38.330

3.  A light and electron microscopy study of an unusual widespread nuclear inclusion body disease. A possible residuum of an old herpesvirus infection.

Authors:  R Lindenberg; L J Rubinstein; M M Herman; G B Haydon
Journal:  Acta Neuropathol       Date:  1968-01-02       Impact factor: 17.088

4.  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

5.  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

6.  GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy.

Authors:  Masaki Okubo; Hiroshi Doi; Ryoko Fukai; Atsushi Fujita; Satomi Mitsuhashi; Shunta Hashiguchi; Hitaru Kishida; Naohisa Ueda; Keisuke Morihara; Akihiro Ogasawara; Yuko Kawamoto; Tatsuya Takahashi; Keita Takahashi; Haruko Nakamura; Misako Kunii; Mikiko Tada; Atsuko Katsumoto; Hiromi Fukuda; Takeshi Mizuguchi; Satoko Miyatake; Noriko Miyake; Junichiro Suzuki; Yasuhiro Ito; Jun Sone; Gen Sobue; Hideyuki Takeuchi; Naomichi Matsumoto; Fumiaki Tanaka
Journal:  Ann Neurol       Date:  2019-10-22       Impact factor: 10.422

7.  Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia.

Authors:  Isabelle Le Ber; Agnès Camuzat; Giovanni Castelnovo; Jean-Philippe Azulay; Pierre Genton; Jean-Louis Gastaut; Dominique Broglin; Pierre Labauge; Alexis Brice; Alexandra Durr
Journal:  Arch Neurol       Date:  2003-08

Review 8.  Consensus Statement on the classification of tremors. from the task force on tremor of the International Parkinson and Movement Disorder Society.

Authors:  Kailash P Bhatia; Peter Bain; Nin Bajaj; Rodger J Elble; Mark Hallett; Elan D Louis; Jan Raethjen; Maria Stamelou; Claudia M Testa; Guenther Deuschl
Journal:  Mov Disord       Date:  2017-11-30       Impact factor: 10.338

9.  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

10.  Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.

Authors:  Yun Tian; Jun-Ling Wang; Wen Huang; Sheng Zeng; Bin Jiao; Zhen Liu; Zhao Chen; Yujing Li; Ying Wang; Hao-Xuan Min; Xue-Jing Wang; Yong You; Ru-Xu Zhang; Xiao-Yu Chen; Fang Yi; Ya-Fang Zhou; Hong-Yu Long; Chao-Jun Zhou; Xuan Hou; Jun-Pu Wang; Bin Xie; Fan Liang; Zhuan-Yi Yang; Qi-Ying Sun; Emily G Allen; Andrew Mark Shafik; Ha Eun Kong; Ji-Feng Guo; Xin-Xiang Yan; Zheng-Mao Hu; Kun Xia; Hong Jiang; Hong-Wei Xu; Ran-Hui Duan; Peng Jin; Bei-Sha Tang; Lu Shen
Journal:  Am J Hum Genet       Date:  2019-06-06       Impact factor: 11.025
View more
  3 in total

Review 1.  The Phenotypes and Mechanisms of NOTCH2NLC-Related GGC Repeat Expansion Disorders: a Comprehensive Review.

Authors:  Xiu-Rong Huang; Bei-Sha Tang; Peng Jin; Ji-Feng Guo
Journal:  Mol Neurobiol       Date:  2021-10-31       Impact factor: 5.590

2.  Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy.

Authors:  Jun-Hui Yuan; Yujiro Higuchi; Masahiro Ando; Eiji Matsuura; Akihiro Hashiguchi; Akiko Yoshimura; Tomonori Nakamura; Yusuke Sakiyama; Jun Mitsui; Hiroyuki Ishiura; Shoji Tsuji; Hiroshi Takashima
Journal:  Front Neurol       Date:  2022-08-17       Impact factor: 4.086

Review 3.  Genomic Markers for Essential Tremor.

Authors:  Félix Javier Jiménez-Jiménez; Hortensia Alonso-Navarro; Elena García-Martín; Ignacio Álvarez; Pau Pastor; José A G Agúndez
Journal:  Pharmaceuticals (Basel)       Date:  2021-05-27
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.