Literature DB >> 24039026

Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy.

Jun Sone1, Naoyuki Kitagawa, Eriko Sugawara, Masaaki Iguchi, Ryoichi Nakamura, Haruki Koike, Yasushi Iwasaki, Mari Yoshida, Tatsuya Takahashi, Susumu Chiba, Masahisa Katsuno, Fumiaki Tanaka, Gen Sobue.   

Abstract

Entities:  

Keywords:  Clinical Neurology; Dementia; MRI; Neuropathology; Neuroradiology

Mesh：

Year:  2013        PMID： 24039026     DOI： 10.1136/jnnp-2013-306084

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  27 in total

1.  A case of recurrent vomiting: extending the spectrum of neuronal intranuclear inclusion disease.

Authors:  Xiaoyun Liu; Xiaohui Liu; Yifeng Du; Youting Lin; Chunxia Li; Cuicui Liu; Lin Lu
Journal:  Neurol Sci       Date:  2019-07-02       Impact factor: 3.307

2.  Identifying patients with neuronal intranuclear inclusion disease in Singapore using characteristic diffusion-weighted MR images.

Authors:  Wai-Yung Yu; Zheyu Xu; Hwei-Yee Lee; Aya Tokumaru; Jeanne M M Tan; Adeline Ng; Shigeo Murayama; C C Tchoyoson Lim
Journal:  Neuroradiology       Date:  2019-07-11       Impact factor: 2.804

3.  A multimodal imaging features of the brain in adult-onset neuronal intranuclear inclusion disease.

Authors:  Yajing Liu; Jiancong Lu; Kai Li; Hai Zhao; Yanyun Feng; Zaiqiang Zhang; Lang Hu; Guode Li; Yan Shao; Yukai Wang
Journal:  Neurol Sci       Date:  2019-02-06       Impact factor: 3.307

4.  CGG repeat expansion in NOTCH2NLC causes mitochondrial dysfunction and progressive neurodegeneration in Drosophila model.

Authors:  Jiaxi Yu; Tongling Liufu; Yilei Zheng; Jin Xu; Lingchao Meng; Wei Zhang; Yun Yuan; Daojun Hong; Nicolas Charlet-Berguerand; Zhaoxia Wang; Jianwen Deng
Journal:  Proc Natl Acad Sci U S A       Date:  2022-10-03       Impact factor: 12.779

5.  Cognitive profiles in adult-onset neuronal intranuclear inclusion disease: a case series from the memory clinic.

Authors:  Fen Wang; Xiaowei Ma; Yuqing Shi; Longfei Jia; Xiumei Zuo; Yueyi Yu; Hongmei Jin; Yi Tang; Dongmei Guo; Jianping Jia
Journal:  Neurol Sci       Date:  2020-11-02       Impact factor: 3.307

6.  GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy.

Authors:  Jiaxi Yu; Xing-Hua Luan; Meng Yu; Wei Zhang; He Lv; Li Cao; Lingchao Meng; Min Zhu; Binbin Zhou; Xiao-Rong Wu; Pidong Li; Qiang Gang; Jing Liu; Xin Shi; Wei Liang; Zhirong Jia; Sheng Yao; Yun Yuan; Jianwen Deng; Daojun Hong; Zhaoxia Wang
Journal:  Ann Clin Transl Neurol       Date:  2021-05-04       Impact factor: 4.511

7.  Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases.

Authors:  Manon Boivin; Jianwen Deng; Véronique Pfister; Erwan Grandgirard; Mustapha Oulad-Abdelghani; Bastien Morlet; Frank Ruffenach; Luc Negroni; Pascale Koebel; Hugues Jacob; Fabrice Riet; Anke A Dijkstra; Kathryn McFadden; Wiley A Clayton; Daojun Hong; Hiroaki Miyahara; Yasushi Iwasaki; Jun Sone; Zhaoxia Wang; Nicolas Charlet-Berguerand
Journal:  Neuron       Date:  2021-04-21       Impact factor: 17.173

8.  Comprehensive diagnostics in a case of hereditary diffuse leukodystrophy with spheroids.

Authors:  Marie Meyer-Ohlendorf; Anne Braczynski; Omar Al-Qaisi; Florian Gessler; Saskia Biskup; Lutz Weise; Joachim P Steinbach; Marlies Wagner; Michel Mittelbronn; Oliver Bähr
Journal:  BMC Neurol       Date:  2015-07-04       Impact factor: 2.474

9.  Neuronal intranuclear inclusion disease presenting with resting tremor.

Authors:  Naoyuki Kitagawa; Jun Sone; Gen Sobue; Masahiko Kuroda; Michio Sakurai
Journal:  Case Rep Neurol       Date:  2014-05-28

10.  Coexistence of neuronal intranuclear inclusion disease and amyotrophic lateral sclerosis: an autopsy case.

Authors:  Atsuhiko Sugiyama; Takahiro Takeda; Mizuho Koide; Hajime Yokota; Hiroki Mukai; Yoshihisa Kitayama; Kazumoto Shibuya; Nobuyuki Araki; Ai Ishikawa; Sagiri Isose; Kimiko Ito; Kazuhiro Honda; Yoshitaka Yamanaka; Terunori Sano; Yuko Saito; Kimihito Arai; Satoshi Kuwabara
Journal:  BMC Neurol       Date:  2021-07-09       Impact factor: 2.474
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