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Genetic Creutzfeldt-Jakob disease shows fatal family insomnia phenotype

期刊: PRION, 2021; 15 (1)

We report a case of genetic Creutzfeldt-Jakob disease (gCJD), which has a clinical phenotype that is highly similar to Fatal Family Insomnia (FFI) and......

A Chinese patient with the clinical features of Parkinson's disease contains a single copy of octarepeat deletion in PRNP case report

期刊: PRION, 2021; 15 (1)

Insertion or deletion of single copy of octapeptide repeat (OR) in human PrP protein are considered as polymorphism, while of insertions of more numbe......

Cloning and analysis of PRNP gene of Vulpes corsac in Qinghai plateau, China

期刊: PRION, 2020; 14 (1)

PRNP gene encodes PrP protein, which is conservative among different species and associates with the susceptibility of prion disease. In this report, ......

Analysis of Chinese patients with sporadic Creutzfeldt-Jakob disease

期刊: PRION, 2020; 14 (1)

Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare, incurable, and fatal neurodegenerative disorder. The objective of this study was to describe the ......

Rare genetic E196A mutation in a patient with Creutzfeldt-Jakob disease: a case report and literature

期刊: PRION, 2020; 14 (1)

Genetic Creutzfeldt-Jakob disease (gCJD) is characterized by mutations in the PRNP gene and represents approximately 10-15% of the human prion disease......

Different post-mortem brain regions from three Chinese FFI patients induce different reactive profiles both in the first and second generation RT-QuIC assays

期刊: PRION, 2020; 14 (1)

Fatal Familial Insomnia (FFI) is one of the most popular genetic prion disease (gPrD) in China. Unlike the other types of human prion diseases, FFI pa......

Association of chronic wasting disease susceptibility with prion protein variation in white-tailed deer (Odocoileus virginianus)

期刊: PRION, 2020; 14 (1)

Chronic wasting disease (CWD) is caused by prions, infectious proteinaceous particles, PrPCWD. We sequenced thePRNPgene of 2,899 white-tailed deer (WT......

Corticobasal manifestations of Creutzfeldt-Jakob disease with D178N-homozygous 129M genotype

期刊: PRION, 2020; 14 (1)

Creutzfeldt-Jakob disease (CJD) is a prion disease, usually presented with memory loss, ataxia, dementia, myoclonus, involuntary movements and psychia......

Enrichment of miR-126 enhances the effects of endothelial progenitor cell-derived microvesicles on modulating MC3T3-E1 cell function via Erk1/2-Bcl-2 signalling pathway

期刊: PRION, 2019; 13 (1)

Objective: To evaluate whether EPC-MVs could promote bone regeneration by directly regulating osteoblast through miR-126. The underlying mechanisms we......

JIF:1.6

Clinical features and genetic characteristics of two Chinese pedigrees with fatal family insomnia

期刊: PRION, 2019; 13 (1)

Background: Fatal familial insomnia (FFI) is a rare autosomal-dominant inherited prion disease characterized clinically by severe sleep disorder, moto......

JIF:1.6

Rare genetic Creutzfeldt-Jakob disease with E196A mutation: a case report

期刊: PRION, 2019; 13 (1)

Genetic Creutzfeldt-Jakob disease (gCJD) accounts for approximately 10-15% of human prion diseases. It is an autosomal dominant disease caused by miss......

JIF:1.6

Genetic effects of PRNP gene insertion/deletion (indel) on phenotypic traits in sheep

期刊: PRION, 2018; 12 (1)

Prion protein (PRNP) gene is well known for affecting mammal transmissible spongiform encephalopathies (TSE), and is also reported to regulate phenoty......

JIF:1.6

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