Associated Papers
Genetic causes and modifiers of prion diseases.
Mead S et al.
The Lancet. Neurology, 2026
M232R Familial Creutzfeldt-Jacob Disease Challenging to Diagnose Due to the Absence of Characteristic Laboratory Findings.
Tanaka Y et al.
Internal Medicine (tokyo, Japan), 2026
Partial Deletion of the Carboxyl-Terminal Signal Sequence of the Cellular Prion Protein Alters Protein Expression via Endoplasmic Reticulum-Associated Degradation.
Yoo M et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025
[Detection of brain MRI abnormalities before symptom onset in case of Creutzfeldt-Jakob disease with compound heterozygous PRNP mutation (V180I/M232R)].
Miura K et al.
Rinsho Shinkeigaku = Clinical Neurology, 2025
Creutzfeldt-Jakob Disease With Double Mutations at Codon 180 and Codon 232 of PRNP.
Kim S et al.
Journal of Clinical Neurology (seoul, Korea), 2025
Generation of an induced pluripotent stem cell line (PNUYHi002-A) from a patient with Alzheimer's disease carrying PRNP M232R variant.
Kim MK et al.
Stem Cell Research, 2024
Spontaneous prion disease in homozygous and heterozygous transgenic mouse models of T188K genetic Creutzfeldt-Jakob disease.
Wu YZ et al.
Neurobiology of Aging, 2023
A point mutation in GPI-attachment signal peptide accelerates the development of prion disease.
Kobayashi A et al.
Acta Neuropathologica, 2023
Preventive or promotive effects of PRNP polymorphic heterozygosity on the onset of prion disease.
Kai H et al.
Heliyon, 2023
Prion Mutations in Republic of Republic of Korea, China, and Japan.
Kim DY et al.
International Journal of Molecular Sciences, 2022
Systematic Review of Clinical and Pathophysiological Features of Genetic Creutzfeldt-Jakob Disease Caused by a Val-to-Ile Mutation at Codon 180 in the Prion Protein Gene.
Matsubayashi T et al.
International Journal of Molecular Sciences, 2022
The First Evaluation of Proteinase K-Resistant Prion Protein (PrPSc) in Korean Appendix Specimens.
Won SY et al.
Medicina (kaunas, Lithuania), 2022
Methionine homozygosity for PRNP polymorphism and susceptibility to human prion diseases.
Kosami K et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2022
Genetic Screening in Korean Patients with Frontotemporal Dementia Syndrome.
Kim EJ et al.
Journal of Alzheimer's Disease Reports, 2022
Genetic Prion Disease: Insight from the Features and Experience of China National Surveillance for Creutzfeldt-Jakob Disease.
Shi Q et al.
Neuroscience Bulletin, 2021
Human Prion Disorders: Review of the Current Literature and a Twenty-Year Experience of the National Surveillance Center in the Czech Republic.
Jankovska N et al.
Diagnostics (basel, Switzerland), 2021
American Association of Neuropathologists, Inc. Abstracts of the 97th Annual Meeting June 10-13, 2021 St. Louis, Missouri.
Unknown Author
Journal of Neuropathology and Experimental Neurology, 2021
Genetic Creutzfeldt-Jakob disease-M232R with the cooccurrence of multiple prion strains, M1 + M2C + M2T: Report of an autopsy case.
Shintaku M et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2021
Clinicopathological findings of a long-term survivor of V180I genetic Creutzfeldt-Jakob disease.
Hayashi Y et al.
Prion, 2020
Clinical and Laboratory Features of Three Rare Chinese V210I gCJD Patients.
Xiao K et al.
Pathogens (basel, Switzerland), 2020
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
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.
Giau VV et al.
Scientific Reports, 2019
Diffusion-weighted imaging negative M232R familial Creutzfeldt-Jakob disease.
Kang YJ et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2019
Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene.
Di Fede G et al.
Acta Neuropathologica Communications, 2019
An autopsied case of MM1-type sporadic Creutzfeldt-Jakob disease with pathology of Wernicke encephalopathy.
Iwasaki Y et al.
Prion, 2019
Next Generation Sequencing Analysis in Early Onset Dementia Patients.
Bonvicini C et al.
Journal of Alzheimer's Disease : Jad, 2019
Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt-Jakob disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2019
Movement Disorders in Prionopathies: A Systematic Review.
Rodriguez-Porcel F et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2019
A valine-to-lysine substitution at position 210 induces structural conversion of prion protein into a β-sheet rich oligomer.
Kakuda K et al.
Biochemical and Biophysical Research Communications, 2018
PrPres deposition in the retina is a common finding of sporadic, familial and iatrogenic Creutzfeldt-Jakob diseases (CJD).
Takao M et al.
Acta Neuropathologica Communications, 2018
Genetic PrP Prion Diseases.
Kim MO et al.
Cold Spring Harbor Perspectives in Biology, 2018
Atypical presentation of probable Creutzfeldt-Jakob disease associated with anti-Zic4 antibody: Literature review of neuronal antibodies in Creutzfeldt-Jakob disease.
Salazar R
Clinical Neurology and Neurosurgery, 2018
Lysosomal Quality Control in Prion Diseases.
Majumder P et al.
Molecular Neurobiology, 2018
Familial human prion diseases associated with prion protein mutations Y226X and G131V are transmissible to transgenic mice expressing human prion protein.
Race B et al.
Acta Neuropathologica Communications, 2018
Biochemical features of genetic Creutzfeldt-Jakob disease with valine-to-isoleucine substitution at codon 180 on the prion protein gene.
Ito Y et al.
Biochemical and Biophysical Research Communications, 2018
Genetic Creutzfeldt-Jakob disease.
Ladogana A et al.
Handbook of Clinical Neurology, 2018
Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases.
Bagyinszky E et al.
Neuropsychiatric Disease and Treatment, 2018
[A case of hereditary sensory and autonomic neuropathy type 1E with frontal lobe dysfunction as an initial symptom].
Watanabe M et al.
Rinsho Shinkeigaku = Clinical Neurology, 2017
Rare genetic Creutzfeldt-Jakob disease with T188K mutation: analysis of clinical, genetic and laboratory features of30 Chinese patients.
Shi Q et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2017
Familial Creutzfeldt-Jakob Disease with M232R Mutation Progressed Slowly like Alzheimer's Disease.
Lee S et al.
Dementia and Neurocognitive Disorders, 2017