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6/6/2019 5:44:00 PM | Browse: 29 | Download: 26
Publication Name World Journal of Clinical Cases
Manuscript ID 46157
Country of Manuscript Source China
Received
2019-02-02 07:23
Peer-Review Started
2019-02-11 01:30
To Make the First Decision
2019-03-14 00:14
Return for Revision
2019-03-19 03:12
Revised
2019-03-23 05:36
Second Decision
2019-03-28 00:53
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2019-04-09 18:12
Articles in Press
2019-04-09 18:12
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2019-06-05 10:01
Publish the Manuscript Online
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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Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Specialty Medicine, Research and 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
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
Author(s) ORCID Number
Xue-Wen Xiao http://orcid.org/0000-0001-9151-8937
Juan Du http://orcid.org/0000-0002-0051-6125
Bin Jiao http://orcid.org/0000-0002-6337-0784
Xin-Xin Liao http://orcid.org/0000-0003-1461-900X
Lu Zhou http://orcid.org/0000-0001-7499-3971
Xi-Xi Liu http://orcid.org/0000-0002-0854-9677
Zhen-Hua Yuan http://orcid.org/0000-0003-0957-0280
Li-Na Guo http://orcid.org/0000-0002-3752-6079
Xin Wang http://orcid.org/0000-0001-7254-0100
Lu Shen http://orcid.org/0000-0002-3393-8578
Zhang-Yuan Lin http://orcid.org/0000-0002-0777-8347
Funding Agency and Grant Number
Funding Agency Grant Number
National Natural Science Foundation of China 81171068
Correspondence To 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
Keywords 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
Full Article (PDF) WJCC-7-1358.pdf
Full Article (Word) WJCC-7-1358.docx
Manuscript File 46157-Review.docx
Answering Reviewers 46157-Answering reviewers.pdf
Audio Core Tip 46157-Audio core tip.mp3
Conflict-of-Interest Disclosure Form 46157-Conflict-of-interest statement.pdf
Copyright License Agreement 46157-Copyright license agreement.pdf
Signed Informed Consent Form(s) or Document(s) 46157-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 46157-Language certificate.pdf
Supplementary Material 46157-Supplementary material.docx
Peer-review Report 46157-Peer-review(s).pdf
Scientific Misconduct Check 46157-Scientific misconduct check.pdf
Scientific Editor Work List 46157-Scientific editor work list.pdf