Literature DB >> 28899011

Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma.

Ellen Gelpi1, Teresa Botta-Orfila2,3, Laia Bodi4, Stefanie Marti2,3, Gabor Kovacs5, Oriol Grau-Rivera1,6, Manuel Lozano7, Raquel Sánchez-Valle6, Esteban Muñoz8, Francesc Valldeoriola8, Javier Pagonabarraga9, Gian-Gaetano Tartaglia2,3,10, Montserrat Milà4.   

Abstract

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Year:  2017        PMID： 28899011     DOI： 10.1093/brain/awx156

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


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  14 in total

1.  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

Review 2.  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

Review 3.  Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions.

Authors:  Zhi-Dong Zhou; Joseph Jankovic; Tetsuo Ashizawa; Eng-King Tan
Journal:  Nat Rev Neurol       Date:  2022-01-12       Impact factor: 44.711

4.  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

5.  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

6.  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

7.  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

8.  Neuronal intranuclear inclusion disease is genetically heterogeneous.

Authors:  Zhongbo Chen; Wai Yan Yau; Zane Jaunmuktane; Arianna Tucci; Prasanth Sivakumar; Sarah A Gagliano Taliun; Chris Turner; Stephanie Efthymiou; Kristina Ibáñez; Roisin Sullivan; Farah Bibi; Alkyoni Athanasiou-Fragkouli; Thomas Bourinaris; David Zhang; Tamas Revesz; Tammaryn Lashley; Michael DeTure; Dennis W Dickson; Keith A Josephs; Ellen Gelpi; Gabor G Kovacs; Glenda Halliday; Dominic B Rowe; Ian Blair; Pentti J Tienari; Anu Suomalainen; Nick C Fox; Nicholas W Wood; Andrew J Lees; Matti J Haltia; John Hardy; Mina Ryten; Jana Vandrovcova; Henry Houlden
Journal:  Ann Clin Transl Neurol       Date:  2020-08-10       Impact factor: 4.511

9.  Neuropathology of RAN translation proteins in fragile X-associated tremor/ataxia syndrome.

Authors:  Amy Krans; Geena Skariah; Yuan Zhang; Bryana Bayly; Peter K Todd
Journal:  Acta Neuropathol Commun       Date:  2019-10-30       Impact factor: 7.578

10.  Reply to: No evidence supports genetic heterogeneity of neuronal intranuclear inclusion disease.

Authors:  Zhongbo Chen; Mina Ryten; Henry Houlden
Journal:  Ann Clin Transl Neurol       Date:  2020-10-30       Impact factor: 5.430
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