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Articles Published Processes
6/6/2019 5:44:00 PM | Browse: 660 | Download: 1259
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Received |
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2019-02-02 07:23 |
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Peer-Review Started |
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2019-02-11 01:30 |
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To Make the First Decision |
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2019-03-14 00:14 |
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Return for Revision |
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2019-03-19 03:12 |
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Revised |
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2019-03-23 05:36 |
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Second Decision |
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2019-03-28 00:53 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2019-04-09 18:12 |
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Articles in Press |
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2019-04-09 18:12 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2019-06-05 10:01 |
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Publish the Manuscript Online |
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2019-06-06 17:44 |
ISSN |
2307-8960 (online) |
Open Access |
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ |
Copyright |
© The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved. |
Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
Website |
http://www.wjgnet.com |
Category |
Medicine, Research & Experimental |
Manuscript Type |
Case Report |
Article Title |
Novel ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature
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Manuscript Source |
Unsolicited Manuscript |
All Author List |
Xue-Wen Xiao, Juan Du, Bin Jiao, Xin-Xin Liao, Lu Zhou, Xi-Xi Liu, Zhen-Hua Yuan, Li-Na Guo, Xin Wang, Lu Shen and Zhang-Yuan Lin |
ORCID |
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Funding Agency and Grant Number |
Funding Agency |
Grant Number |
National Natural Science Foundation of China |
81171068 |
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Corresponding Author |
Zhang-Yuan Lin, MD, PhD, Surgeon, Department of Orthopedics, Xiangya Hospital, Central South University, No. 87 Xiangya Rd., Kaifu District, Changsha 410008, Hunan Province, China. linzhangyuan2505@sina.com |
Key Words |
Hereditary spastic paraplegia; SPG3A; Atlastin-1 (ATL1) gene; Hearing loss; Case report |
Core Tip |
Hereditary spastic paraplegias are a group of genetically and clinically heterogeneous neurodegenerative diseases characterized by lower limbs spasticity and weakness. Here we reported a novel ATL1 Q251R mutation predicted to be pathogenic and a novel clinical phenotype of hearing loss in a Chinese SPG3A family, which expands the clinical and genetic spectrum of ATL1 mutations. |
Publish Date |
2019-06-06 17:44 |
Citation |
Xiao XW, Du J, Jiao B, Liao XX, Zhou L, Liu XX, Yuan ZH, Guo LN, Wang X, Shen L, Lin ZY. Novel ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature. World J Clin Cases 2019; 7(11): 1358-1366 |
URL |
URL: https://www.wjgnet.com/2307-8960/full/v7/i11/1358.htm |
DOI |
DOI: https://dx.doi.org/10.12998/wjcc.v7.i11.1358 |
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