Associated Papers
Enhanced Sensitivity of a Modified Quaking-Induced Conversion Diagnostic Test for the Broad Detection of Sporadic and Inherited Prion Diseases: A Retrospective Study.
Myskiw J et al.
Annals of Neurology, 2026
White matter abnormalities in healthy E200K carriers may serve as an early biomarker for genetic Creutzfeldt-Jakob disease (gCJD).
Omer N et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2025
Biomarker changes preceding symptom onset in genetic prion disease.
Vallabh SM et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.
Oyama N et al.
Journal of Medical Genetics, 2023
Prion Mutations in Republic of Republic of Korea, China, and Japan.
Kim DY et al.
International Journal of Molecular Sciences, 2022
Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases.
Schmitz M et al.
Brain : a Journal of Neurology, 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
Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease.
Ximelis T et al.
Alzheimer's Research & Therapy, 2021
Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification.
Baiardi S et al.
Acta Neuropathologica, 2021
Sporadic Creutzfeldt-Jakob disease with tau pathology mimicking new-onset refractory non-convulsive status epilepticus: Case report and review of the literature.
Gonzalez-Martinez A et al.
European Journal of Neurology, 2021
Cerebrospinal fluid and plasma biomarkers in individuals at risk for genetic prion disease.
Vallabh SM et al.
Bmc Medicine, 2020
Plasma total prion protein as a potential biomarker for neurodegenerative dementia: diagnostic accuracy in the spectrum of prion diseases.
Llorens F et al.
Neuropathology and Applied Neurobiology, 2020
CSF Ubiquitin Levels Are Higher in Alzheimer's Disease than in Frontotemporal Dementia and Reflect the Molecular Subtype in Prion Disease.
Abu-Rumeileh S et al.
Biomolecules, 2020
Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion Diseases.
Villar-Piqué A et al.
Molecular Neurobiology, 2019
Cerebrospinal fluid neurofilament light levels in neurodegenerative dementia: Evaluation of diagnostic accuracy in the differential diagnosis of prion diseases.
Zerr I et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2018
Genetic PrP Prion Diseases.
Kim MO et al.
Cold Spring Harbor Perspectives in Biology, 2018
Genetic Creutzfeldt-Jakob disease.
Ladogana A et al.
Handbook of Clinical Neurology, 2018
Atypical Creutzfeldt-Jakob disease with PrP-amyloid plaques in white matter: molecular characterization and transmission to bank voles show the M1 strain signature.
Rossi M et al.
Acta Neuropathologica Communications, 2017
Experimental Models of Inherited PrP Prion Diseases.
Watts JC et al.
Cold Spring Harbor Perspectives in Medicine, 2017
High diagnostic value of second generation CSF RT-QuIC across the wide spectrum of CJD prions.
Franceschini A et al.
Scientific Reports, 2017
Evaluation of α-synuclein as a novel cerebrospinal fluid biomarker in different forms of prion diseases.
Llorens F et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2017
Prion-specific and surrogate CSF biomarkers in Creutzfeldt-Jakob disease: diagnostic accuracy in relation to molecular subtypes and analysis of neuropathological correlates of p-tau and Aβ42 levels.
Lattanzio F et al.
Acta Neuropathologica, 2017
Diagnostic and prognostic value of human prion detection in cerebrospinal fluid.
Foutz A et al.
Annals of Neurology, 2017
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
Neurofilaments in blood and CSF for diagnosis and prediction of onset in Creutzfeldt-Jakob disease.
Steinacker P et al.
Scientific Reports, 2016
Towards authentic transgenic mouse models of heritable PrP prion diseases.
Watts JC et al.
Acta Neuropathologica, 2016
The Levels of Tau Isoforms Containing Exon-2 and Exon-10 Segments Increased in the Cerebrospinal Fluids of the Patients with Sporadic Creutzfeldt-Jakob Disease.
Chen C et al.
Molecular Neurobiology, 2016
Clinical findings and diagnosis in genetic prion diseases in Germany.
Krasnianski A et al.
European Journal of Epidemiology, 2016
NEURODEGENERATION. Alzheimer's and Parkinson's diseases: The prion concept in relation to assembled Aβ, tau, and α-synuclein.
Goedert M
Science (new York, N.y.), 2015
Cyclin-dependent kinase 5 phosphorylation of familial prion protein mutants exacerbates conversion into amyloid structure.
Rouget R et al.
The Journal of Biological Chemistry, 2015
Invited review: Neuropathology of tauopathies: principles and practice.
Kovacs GG
Neuropathology and Applied Neurobiology, 2015
Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies.
Ladogana A et al.
Journal of Neurology, 2009
[Genetic basis for dementia].
Kuwano R et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2009
ApoE distribution and family history in genetic prion diseases in Germany.
Krasnianski A et al.
Journal of Molecular Neuroscience : Mn, 2008
Alteration of the serotonergic nervous system in fatal familial insomnia.
Wanschitz J et al.
Annals of Neurology, 2000
[Familial mitochondrial encephalopathy. A clinicopathologic study].
Estournet B et al.
Revue Neurologique, 1991