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Articles Published Processes
4/24/2020 10:13:26 AM | Browse: 788 | Download: 932
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Received |
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2019-12-23 15:50 |
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Peer-Review Started |
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2019-12-17 04:26 |
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To Make the First Decision |
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Return for Revision |
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2020-04-01 05:47 |
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Revised |
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2020-04-09 11:10 |
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Second Decision |
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2020-04-17 08:20 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2020-04-17 18:03 |
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Articles in Press |
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2020-04-17 18:03 |
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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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2020-04-22 04:05 |
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Publish the Manuscript Online |
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2020-04-24 10:13 |
| ISSN |
2307-8960 (online) |
| Open Access |
This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (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) 2020. 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 |
Clinical Neurology |
| Manuscript Type |
Case Report |
| Article Title |
Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula: A case report and review of literature
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Abdullah Al-Ajmi, Sarah Shamsah, Aleksandar Janicijevic, Michayla Williams and Fahd Al-Mulla |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
Fahd Al-Mulla, FRCPE, MBChB, PhD, Full Professor, Department of Genetics, Genatak Center for Genomic Medicine, Mirqab, Kuwait City 12000, Kuwait. fahd@al-mulla.org |
| Key Words |
Ataxia; Autosomal recessive spastic ataxia of charlevoix-saguenay; Sacsin; Autosomal recessive spastic ataxia of charlevoix-saguenay; SACS mutation; Arabia |
| Core Tip |
Autosomal recessive spastic ataxia of charlevoix-saguenay has not been reported previously in the Arabian peninsula where the consanguinity rate is high. We present herein, the first family with autosomal recessive spastic ataxia of charlevoix-saguenay harboring a novel SACS gene frameshift pathogenic mutation and argue that the disease may be underdiagnosed due to the lack of proper laboratory-clinical integration. This case highlights the importance of integrating the next generation sequencing pipeline for optimal diagnosis of neurological disorders. |
| Publish Date |
2020-04-24 10:13 |
| Citation |
Al-Ajmi A, Shamsah S, Janicijevic A, Williams M, Al-Mulla F. Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula: A case report and review of literature. World J Clin Cases 2020; 8(8): 1477-1488 |
| URL |
https://www.wjgnet.com/2307-8960/full/v8/i8/1477.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v8.i8.1477 |
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