Associated Papers
Predominant right temporal and frontal brain atrophy and progressive behavioral dementia. A case of prion gene mutation (PRNP).
Koumasopoulos E et al.
Neurocase, 2025
Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease.
McDonough GA et al.
Acta Neuropathologica, 2024
Neuropathologically-directed profiling of PRNP somatic and germline variants in sporadic human prion disease.
McDonough GA et al.
Biorxiv : the Preprint Server for Biology, 2024
Calabria as a Genetic Isolate: A Model for the Study of Neurodegenerative Diseases.
Bruno F et al.
Biomedicines, 2022
Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge.
Chen Z et al.
Alzheimer's Research & Therapy, 2022
Alterations of Striatal Subregions in a Prion Protein Gene V180I Mutation Carrier Presented as Frontotemporal Dementia With Parkinsonism.
Chen Z et al.
Frontiers in Aging Neuroscience, 2022
Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia.
Sassi C et al.
Scientific Reports, 2021
Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients.
Kim YC et al.
Cells, 2020
First Report of the Potential Bovine Spongiform Encephalopathy (BSE)-Related Somatic Mutation E211K of the Prion Protein Gene (PRNP) in Cattle.
Won SY et al.
International Journal of Molecular Sciences, 2020
Genetic Factors in Mammalian Prion Diseases.
Mead S et al.
Annual Review of Genetics, 2019
Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review.
Bernardi L et al.
International Journal of Molecular Sciences, 2019
Prion dimer is heterogenous and is modulated by multiple negative and positive motifs.
Gao Z et al.
Biochemical and Biophysical Research Communications, 2019
The clinical features in Chinese patients with PRNP D178N mutation.
Chen S et al.
Acta Neurologica Scandinavica, 2018
Genetic PrP Prion Diseases.
Kim MO et al.
Cold Spring Harbor Perspectives in Biology, 2018
Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases.
Bagyinszky E et al.
Neuropsychiatric Disease and Treatment, 2018
Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.
Takada LT et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2017
Mutational analysis of PRNP in Alzheimer's disease and frontotemporal dementia in China.
Zhang W et al.
Scientific Reports, 2016
Transgenic mice recapitulate the phenotypic heterogeneity of genetic prion diseases without developing prion infectivity: Role of intracellular PrP retention in neurotoxicity.
Chiesa R et al.
Prion, 2016
Quantifying prion disease penetrance using large population control cohorts.
Minikel EV et al.
Science Translational Medicine, 2016
PRNP P39L Variant is a Rare Cause of Frontotemporal Dementia in Italian Population.
Oldoni E et al.
Journal of Alzheimer's Disease : Jad, 2016
Novel N-terminal domain mutation in prion protein detected in 2 patients diagnosed with frontotemporal lobar degeneration syndrome.
Bernardi L et al.
Neurobiology of Aging, 2014