Literature DB >> 32449905

Essential tremor as the early symptom of NOTCH2NLC gene-related repeat expansion disorder.

Hao Chen1,2, Likui Lu3, Bin Wang4, Xiaodong Hua5,6, Bo Wan4, Miao Sun3, Xingshun Xu1,4,7.   

Abstract

Entities:  

Year:  2020        PMID： 32449905     DOI： 10.1093/brain/awaa142

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


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  9 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.  Deep Brain Stimulation on Neuronal Intranuclear Inclusion Disease-Related Tremor: A Double-Edged Impact?

Authors:  Kazuhiro Fukushima; Takao Hashimoto; Takehiro Yako; Akinori Nakamura; Kenya Oguchi; Ryoichi Hayashi; Jun Sone; Yo-Ichi Takei
Journal:  Mov Disord Clin Pract       Date:  2022-08-05

3.  Exploring Interrater Disagreement on Essential Tremor Using a Standardized Tremor Elements Assessment.

Authors:  Jos Becktepe; Felix Gövert; Bettina Balint; Christian Schlenstedt; Kailash Bhatia; Rodger Elble; Günther Deuschl
Journal:  Mov Disord Clin Pract       Date:  2021-02-12

4.  Case report: Adult-onset neuronal intranuclear inclusion disease with an amyotrophic lateral sclerosis phenotype.

Authors:  Masako Fujita; Tatsuya Ueno; Yasuo Miki; Akira Arai; Hidekachi Kurotaki; Koichi Wakabayashi; Masahiko Tomiyama
Journal:  Front Neurosci       Date:  2022-08-10       Impact factor: 5.152

Review 5.  Clinical and mechanism advances of neuronal intranuclear inclusion disease.

Authors:  Yueqi Liu; Hao Li; Xuan Liu; Bin Wang; Hao Yang; Bo Wan; Miao Sun; Xingshun Xu
Journal:  Front Aging Neurosci       Date:  2022-09-13       Impact factor: 5.702

Review 6.  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

7.  The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3.

Authors:  Jiaxi Yu; Jianwen Deng; Xueyu Guo; Jingli Shan; Xinghua Luan; Li Cao; Juan Zhao; Meng Yu; Wei Zhang; He Lv; Zhiying Xie; LingChao Meng; Yiming Zheng; Yawen Zhao; Qiang Gang; Qingqing Wang; Jing Liu; Min Zhu; Binbin Zhou; Pidong Li; Yinzhe Liu; Yang Wang; Chuanzhu Yan; Daojun Hong; Yun Yuan; Zhaoxia Wang
Journal:  Brain       Date:  2021-07-28       Impact factor: 13.501

8.  Re-defining the clinicopathological spectrum of neuronal intranuclear inclusion disease.

Authors:  Hao Chen; Likui Lu; Bin Wang; Guiyun Cui; Xingqi Wang; Yujing Wang; Hafiz Khuram Raza; Yan Min; Keke Li; Yingying Cui; Zhigang Miao; Bo Wan; Miao Sun; Xingshun Xu
Journal:  Ann Clin Transl Neurol       Date:  2020-09-15       Impact factor: 4.511

9.  Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders.

Authors:  Wai Yan Yau; Jana Vandrovcova; Roisin Sullivan; Zhongbo Chen; Anna Zecchinelli; Roberto Cilia; Stefano Duga; Malgorzata Murray; Susana Carmona; Viorica Chelban; Hiroyuki Ishiura; Shoji Tsuji; Zane Jaunmuktane; Chris Turner; Nicholas W Wood; Henry Houlden
Journal:  Mov Disord       Date:  2020-10-07       Impact factor: 9.698
  9 in total

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