Literature DB >> 28314738

Rare genetic Creutzfeldt-Jakob disease with T188K mutation: analysis of clinical, genetic and laboratory features of30 Chinese patients.

Qi Shi1,2, Wei Zhou1,2, Cao Chen1,2, Kang Xiao1,2, Yuan Wang1,2, Chen Gao1,2, Xiao-Ping Dong1,2.   

Abstract

Entities:  

Keywords:  CLINICAL NEUROLOGY; CREUTZFELDT-JAKOB DISEASE

Mesh：

Substances：

Year:  2017        PMID： 28314738     DOI： 10.1136/jnnp-2016-314868

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  7 in total

1.  Genetic Prion Disease: Insight from the Features and Experience of China National Surveillance for Creutzfeldt-Jakob Disease.

Authors:  Qi Shi; Cao Chen; Kang Xiao; Wei Zhou; Li-Ping Gao; Dong-Dong Chen; Yue-Zhang Wu; Yuan Wang; Chao Hu; Chen Gao; Xiao-Ping Dong
Journal:  Neurosci Bull       Date:  2021-09-06       Impact factor: 5.203

2.  T188K-Familial Creutzfeldt-Jacob Disease, Predominant Among Chinese, has a Reactive Pattern in CSF RT-QuIC Different from D178N-Fatal Familial Insomnia and E200K-Familial CJD.

Authors:  Kang Xiao; Qi Shi; Wei Zhou; Bao-Yun Zhang; Yuan Wang; Cao Chen; Yue Ma; Chen Gao; Xiao-Ping Dong
Journal:  Neurosci Bull       Date:  2019-03-05       Impact factor: 5.203

3.  Profiles of 14-3-3 and Total Tau in CSF Samples of Chinese Patients of Different Genetic Prion Diseases.

Authors:  Cao Chen; Chao Hu; Qi Shi; Wei Zhou; Kang Xiao; Yuan Wang; Lian Liu; Jia Chen; Ying Xia; Xiao-Ping Dong
Journal:  Front Neurosci       Date:  2019-09-04       Impact factor: 4.677

4.  The genetic Creutzfeldt-Jakob disease with E200K mutation: analysis of clinical, genetic and laboratory features of 30 Chinese patients.

Authors:  Li-Ping Gao; Qi Shi; Kang Xiao; Jing Wang; Wei Zhou; Cao Chen; Xiao-Ping Dong
Journal:  Sci Rep       Date:  2019-02-12       Impact factor: 4.379

Review 5.  Creutzfeldt-Jakob disease associated with a T188K homozygous mutation in the prion protein gene: a case report and review of the literature.

Authors:  Yuheng Shan; Jiatang Zhang; Yuying Cen; Xiaojiao Xu; Ruishu Tan; Jiahua Zhao; Shengyuan Yu
Journal:  Prion       Date:  2022-12       Impact factor: 3.931

6.  Characteristics of Chinese patients with genetic CJD who have E196A or E196K mutation in PRNP: comparative analysis of patients identified in the Chinese National CJD Surveillance System.

Authors:  Qi Shi; Kang Xiao; Cao Chen; Wei Zhou; Li-Ping Gao; Yue-Zhang Wu; Yuan Wang; Chao Hu; Chen Gao; Xiao-Ping Dong
Journal:  BMJ Open       Date:  2021-11-15       Impact factor: 2.692

7.  Validation and Application of Skin RT-QuIC to Patients in China with Probable CJD.

Authors:  Kang Xiao; Xuehua Yang; Wei Zhou; Cao Chen; Qi Shi; Xiaoping Dong
Journal:  Pathogens       Date:  2021-12-19
  7 in total

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