Genetic PrP prion diseases
MO Kim, LT Takada, K Wong… - Cold Spring …, 2018 - cshperspectives.cshlp.org
Genetic prion diseases (gPrDs) caused by mutations in the prion protein gene (PRNP) have
been classified as genetic Creutzfeldt–Jakob disease, Gerstmann–Sträussler–Scheinker …
been classified as genetic Creutzfeldt–Jakob disease, Gerstmann–Sträussler–Scheinker …
Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases
Abnormal prion proteins are responsible for several fatal neurodegenerative diseases in
humans and in animals, including Creutzfeldt–Jakob disease (CJD), Gerstmann–Sträussler …
humans and in animals, including Creutzfeldt–Jakob disease (CJD), Gerstmann–Sträussler …
Genetic prion disease: experience of a rapidly progressive dementia center in the United States and a review of the literature
LT Takada, MO Kim, RW Cleveland… - American Journal of …, 2017 - Wiley Online Library
Although prion diseases are generally thought to present as rapidly progressive dementias
with survival of only a few months, the phenotypic spectrum for genetic prion diseases …
with survival of only a few months, the phenotypic spectrum for genetic prion diseases …
Genetic Creutzfeldt–Jakob disease and fatal familial insomnia: insights into phenotypic variability and disease pathogenesis
S Capellari, R Strammiello, D Saverioni… - Acta …, 2011 - Springer
Human prion diseases are a group of rare neurodegenerative disorders characterized by
the conversion of the constitutively expressed prion protein, PrP C, into an abnormally …
the conversion of the constitutively expressed prion protein, PrP C, into an abnormally …
Genetic Creutzfeldt–Jakob disease
A Ladogana, GG Kovacs - Handbook of Clinical Neurology, 2018 - Elsevier
Abstract Genetic Creutzfeldt–Jakob disease (CJD) is associated with mutations in the
human PrP gene (PRNP) on chromosome 20p12-pter. Pathogenic mutations have been …
human PrP gene (PRNP) on chromosome 20p12-pter. Pathogenic mutations have been …
The features of genetic prion diseases based on Chinese surveillance program
Q Shi, W Zhou, C Chen, BY Zhang, K **ao, XC Zhang… - PloS one, 2015 - journals.plos.org
Objective To identify the features of Chinese genetic prion diseases. Methods Suspected
Creutzfeldt-Jakob disease (CJD) cases that were reported under CJD surveillance were …
Creutzfeldt-Jakob disease (CJD) cases that were reported under CJD surveillance were …
Prion protein: orchestrating neurotrophic activities
PrP C is highly expressed in both the central and peripheral nervous systems from early
stages of development and in adulthood. Its major conformational change and conversion …
stages of development and in adulthood. Its major conformational change and conversion …
The epidemiological, clinical, and laboratory features of sporadic Creutzfeldt-Jakob disease patients in China: surveillance data from 2006 to 2010
Background Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive fatal central
nervous system disorder, which consists of three main catalogues: sporadic, familial, and …
nervous system disorder, which consists of three main catalogues: sporadic, familial, and …
Prion disease
Genetic prion diseases (gPrDs) are caused by autosomal-dominant mutations in the prion
protein gene (PRNP). Although the first PRNP mutations identified, and most since, are …
protein gene (PRNP). Although the first PRNP mutations identified, and most since, are …
[HTML][HTML] Characteristics of different types of prion diseases—China's surveillance
Q Shi, C Chen, K **ao, W Zhou, C Gao, L Gao… - China CDC …, 2022 - ncbi.nlm.nih.gov
This report briefly described the establishment and implementation of national surveillance
for human prion disease (PrD) in China. Reported cases came from Chinese surveillance …
for human prion disease (PrD) in China. Reported cases came from Chinese surveillance …