Novel mutations in <scp> <i>HTRA1</i> </scp> ‐related cerebral small vessel disease and comparison with <scp>CADASIL</scp>-Reference-Cited by-同舟云学术

Novel mutations in HTRA1 ‐related cerebral small vessel disease and comparison with CADASIL

Published:2022-09 Issue:10 Volume:9 Page:1586-1595
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Zhang Chen¹^ORCID,Zheng Honghua²,Li Xin²,Li Shaowu³,Li Wei⁴,Wang Ziwei²,Niu Songtao¹,Wang Xingao¹,Zhang Zaiqiang¹^ORCID

Affiliation:

1. Department of Neurology, China National Clinical Research Center for Neurological Diseases Beijing Tiantan Hospital, Capital Medical University Beijing China

2. Fujian Provincial Key Laboratory of Neurodegenerative Disease and Aging Research Institute of Neuroscience, School of Medicine, Xiamen University Xiamen Fujian China

3. Beijing Neurosurgical Institute, Beijing Tiantan Hospital, Capital Medical University Beijing 100070 China

4. Monogenic Disease Research Center for Neurological Disorders Beijing Tiantan Hospital, Capital Medical University Beijing China

Funder

Beijing Municipal Science and Technology Commission

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51654

Reference28 articles.

1. Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease

2. Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease

3. Characteristic features and progression of abnormalities on MRI for CARASIL

5. Loss of the serine protease HTRA1 impairs smooth muscle cells maturation

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1. Reply to: “Inappropriate interpretation of non‐pathogenic HTRA1 variant as pathogenic”;Annals of Clinical and Translational Neurology;2023-05-31

2. Inappropriate interpretation of non‐pathogenic HTRA1 variant as pathogenic;Annals of Clinical and Translational Neurology;2023-05-31

3. Heterozygous Pathogenic and Likely Pathogenic Symptomatic HTRA1 Variant Carriers in Cerebral Small Vessel Disease;International Journal of General Medicine;2023-03