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Articles Published Processes
9/20/2023 4:48:38 PM | Browse: 137 | Download: 387
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Received |
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2023-06-30 01:40 |
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Peer-Review Started |
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2023-06-30 01:40 |
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To Make the First Decision |
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Return for Revision |
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2023-08-09 08:40 |
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Revised |
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2023-08-15 08:18 |
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Second Decision |
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2023-08-23 02:48 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2023-08-23 08:07 |
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Articles in Press |
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2023-08-23 08:07 |
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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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2023-09-12 07:12 |
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Publish the Manuscript Online |
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2023-09-20 16:48 |
| 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: https://creativecommons.org/Licenses/by-nc/4.0/ |
| Copyright |
© The Author(s) 2023. 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 |
Neurosciences |
| Manuscript Type |
Case Report |
| Article Title |
Compound heterozygous mutations in tripeptidyl peptidase 1 cause rare autosomal recessive spinocerebellar ataxia type 7: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Rui-Han Liu, Xin-Yu Wang, Yuan-Yuan Jia, Xing-Chen Wang, Min Xia, Qiong Nie, Jia Guo and Qing-Xia Kong |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Postdoctoral program of the Affiliated Hospital of Jining Medical University |
No. JYFY303573 |
| Health Commission of Shandong Province |
No. 202006010928 |
| Academician Lin He New Medicine in Jining Medical University |
No. JYHL2018FMS05 |
| Affiliated Hospital of Jining Medical University |
No. 2018-BS-004 |
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| Corresponding Author |
Qing-Xia Kong, PhD, Chief Physician, Doctor, Doctor, Department of Neurology, Affiliated Hospital of Jining Medical University, No. 89 Guhuai Road, Jining 272000, Shandong Province, China. kxdqy8@sohu.com |
| Key Words |
Spinocerebellar ataxia recessive type 7; Tripeptidyl peptidase 1; Compound heterozygous variant; Case report |
| Core Tip |
A Chinese woman presented with progressive walking difficulties, falling easily, slurred speech, and coughing when drinking. Magnetic resonance imaging revealed cerebellar atrophy. Whole exome sequencing detected novel compound heterozygous mutations in the tripeptidyl peptidase 1 gene. Clinical manifestations and bioinformatics analysis showed that the mutations caused spinocerebellar ataxia recessive type 7. |
| Publish Date |
2023-09-20 16:48 |
| Citation |
Liu RH, Wang XY, Jia YY, Wang XC, Xia M, Nie Q, Guo J, Kong QX. Compound heterozygous mutations in tripeptidyl peptidase 1 cause rare autosomal recessive spinocerebellar ataxia type 7: A case report. World J Clin Cases 2023; 11(27): 6618-6623 |
| URL |
https://www.wjgnet.com/2307-8960/full/v11/i27/6618.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v11.i27.6618 |
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