A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia-Reference-Cited by-同舟云学术

A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia

Published:2019 Issue:2 Volume:15 Page:271
ISSN:1738-6586
Container-title:Journal of Clinical Neurology
language:en
Short-container-title:J Clin Neurol

Author:

Chen You¹,Cen Zhidong¹,Zheng Xiaosheng¹²,Xie Fei¹³,Chen Si¹⁴,Luo Wei¹

Affiliation:

1. Department of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.

2. Intensive Care Unit, Zhejiang Hospital, Hangzhou, China.

3. Department of Neurology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, China.

4. Cancer Institute, Key Laboratory of Cancer Prevention and Intervention, China National Ministry of Education, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.

Funder

Science and Technology Department of Zhejiang Province

National Natural Science Foundation of China

Publisher

Korean Neurological Association

Subject

Neurology (clinical),Neurology

Link

https://synapse.koreamed.org/pdf/10.3988/jcn.2019.15.2.271

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1. Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review;neurogenetics;2023-07-19

2. Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement;Frontiers in Neurology;2022-09-30

3. Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia;Annals of Clinical and Translational Neurology;2020-08-29

4. CAPN1 and hereditary spastic paraplegia: a novel variant in an Iranian family and overview of the genotype-phenotype correlation;International Journal of Neuroscience;2020-05-13

5. Mutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases;Journal of the Neurological Sciences;2020-04