Transmission Ratio Distortion in Genetic Prion Diseases: Clarifying Methodological Considerations.

D178N prion protein mutation endows RML prions with new strain properties that do not mimic human genetic prion diseases.

Mutant knock-in mice display enhanced susceptibility to pure prion protein fibrils.

Genetic causes and modifiers of prion diseases.

Advancing prion diagnostics: full-length human E200K RT-QuIC substrate facilitates prion detection in tear fluid and improves sensitivity in cerebrospinal fluid.

The Risk of Transmission of Genetic Prion Diseases is Greater Than 50.

Parkinsonism in Gerstmann-Sträussler-Scheinker disease: A case report.

Pedigree analysis and genetic inheritance of fatal familial insomnia (FFI) in a Portuguese multigenerational family.

Infecting human brain organoids with FFI or sCJD preserves prion traits regardless of host genotype.

Follow-up multimodal changes on PET/MRI in fatal familial insomnia patient: a case report.

A review on current theories and potential therapies for prion diseases.

The Glycine-Rich Region as a Flexible Molecular Glue Promoting hPrP106-145 Aggregation into β-Sheet Structures.

Doxycycline: An essential tool for Alzheimer's disease.

National Creutzfeldt-Jakob disease research biobank, a novel approach to the establishment of the scientific platform: collaboration between patient advocacy group, scientists, regulators and physicians.

β-synuclein in cerebrospinal fluid as a potential biomarker for distinguishing human prion diseases from Alzheimer's and Parkinson's disease.

Fatal familial insomnia: A new case description with response to thoracic sympathetic nerve thermocoagulation and stellate ganglion block.

A fatal familial insomnia patient initially misdiagnosed as Alzheimer's disease: a case report.

Fatal familial insomnia: Reporting a case of the rare nightmare.

Dopaminergic neurodegeneration in Gerstmann-Sträussler-Scheinker (P102L) disease: insights from imaging and pathological examination.

Agrypnia excitata: a human model to explore the derailment of sleep-wake cycle integrated control.

Creutzfeldt-Jakob Disease and Fatal Familial Insomnia: Demographics and In-Hospital Mortality in Spain.

Updated global epidemiology atlas of human prion diseases.

Anti-prion drugs do not improve survival in novel knock-in models of inherited prion disease.

[Clinical characteristics and diagnostics of human spongiform encephalopathies: an update].

[Fatal Familial Insomnia With Significant Correlations Between Involuntary Movements and Postural Changes:Report of One Case].

Selective Vulnerability to Neurodegenerative Disease: Insights from Cell Type-Specific Translatome Studies.

A case report of fatal familial insomnia with cerebrospinal fluid leukocytosis during the COVID-19 epidemic and review of the literature.

Human prion diseases and the prion protein - what is the current state of knowledge?

Anti-prion drugs do not improve survival in knock-in models of inherited prion disease.

A Theoretical Framework on the Biology of Prion Diseases.

Genetic Variants Associated with the Age of Onset Identified by Whole-Exome Sequencing in Fatal Familial Insomnia.

Sleep in Gerstmann-Straüssler-Scheinker disease.

V180I genetic Creutzfeldt-Jakob disease: Severe degeneration of the inferior olivary nucleus in an autopsied patient with identification of the M2T prion strain.

Human prion diseases: An overview.

From parasomnia to agrypnia excitata - An illustrative case on diagnostic approach.

Altered energy metabolism in Fatal Familial Insomnia cerebral organoids is associated with astrogliosis and neuronal dysfunction.

Clinical profiles and ethnic heterogeneity of sporadic fatal insomnia.

Prion Mutations in Republic of Republic of Korea, China, and Japan.

Dysfunction of the cardiac parasympathetic system in fatal familial insomnia: a heart rate variability study.

Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value.

Genetic aspects of human prion diseases.

Translatome profiling in fatal familial insomnia implicates TOR signaling in somatostatin neurons.

Sleep architecture and sleep-disordered breathing in fatal insomnia.

Met/Val129 polymorphism of the full-length human prion protein dictates distinct pathways of amyloid formation.

Genetic counseling for prion disease: Updates and best practices.

Estimation of the number of inherited prion disease mutation carriers in the UK.

Preventive pharmacological treatment in subjects at risk for fatal familial insomnia: science and public engagement.

Specific structuro-metabolic pattern of thalamic subnuclei in fatal familial insomnia: A PET/MRI imaging study.

Proposal of new diagnostic criteria for fatal familial insomnia.

Can insomnia be fatal? An Australian case of fatal familial insomnia.

Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases.

Postural instability and backward leaning in a patient of familial fatal insomnia with positive SOX1 antibodies.

Plasma neurofilament light chain as a biomarker for fatal familial insomnia.

Calcineurin Controls Cellular Prion Protein Expression in Mouse Astrocytes.

A case of fatal familial insomnia: diagnostic and therapeutic approaches.

A fatal familial insomnia patient newly diagnosed as having depression: A case report.

Defining the Prion Type of Fatal Familial Insomnia.

Clinical profile of fatal familial insomnia: phenotypic variation in 129 polymorphisms and geographical regions.

Genetic Prion Disease: Insight from the Features and Experience of China National Surveillance for Creutzfeldt-Jakob Disease.

Doxycycline rescues recognition memory and circadian motor rhythmicity but does not prevent terminal disease in fatal familial insomnia mice.

Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification.

Diagnostic and prognostic performance of CSF α-synuclein in prion disease in the context of rapidly progressive dementia.

MicroRNAs in Prion Diseases-From Molecular Mechanisms to Insights in Translational Medicine.

Fatal insomnia: the elusive prion disease.

[Prion diseases or transmissible spongiform encephalopathies].

Mediodorsal thalamus lesion increases paradoxical sleep in rats.

TREM2 expression in the brain and biological fluids in prion diseases.

PMCA-generated prions from the olfactory mucosa of patients with Fatal Familial Insomnia cause prion disease in mice.

Genetic prion disease: D178N with 129MV disease modifying polymorphism-a clinical phenotype.

Activation of Src family kinase ameliorates secretory trafficking in mutant prion protein cells.

Clinical manifestations and polysomnography-based analysis in nine cases of probable sporadic Creutzfeldt-Jakob disease.

Thirty years of fatal familial insomnia and autonomic research: celebrating the past, embracing the future.

Fatal Familial Insomnia: A Rare Disease with Unique Clinico-Neurophysiological Features.

Neuro-Ophthalmological Findings in Early Fatal Familial Insomnia.

Fatal Familial Insomnia with Early Dysautonomia and Diabetes.

Stridor during sleep: description of 81 consecutive cases diagnosed in a tertiary sleep disorders center.

Two distinct prions in fatal familial insomnia and its sporadic form.

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

The rhythms of AMBEs (arousal-related motor behavioral episodes) in Agrypnia Excitata: a video motor analysis.

Fatal familial insomnia: A new case description with early response to immunotherapy.

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

Diagnosis of prion diseases by RT-QuIC results in improved surveillance.

Movement Disorders in Prionopathies: A Systematic Review.

Significant enhanced expressions of aquaporin-1, -4 and -9 in the brains of various prion diseases.

Evaluation of Human Cerebrospinal Fluid Malate Dehydrogenase 1 as a Marker in Genetic Prion Disease Patients.

Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review.

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

Fatal familial insomnia and Agrypnia Excitata: Autonomic dysfunctions and pathophysiological implications.

c-Fos expression in the limbic thalamus following thermoregulatory and wake-sleep changes in the rat.

T188K-Familial Creutzfeldt-Jacob Disease, Predominant Among Chinese, has a Reactive Pattern in CSF RT-QuIC Different from D178N-Fatal Familial Insomnia and E200K-Familial CJD.

Prion dimer is heterogenous and is modulated by multiple negative and positive motifs.

Stimulations of the Culture Medium of Activated Microglia and TNF-Alpha on a Scrapie-Infected Cell Line Decrease the Cell Viability and Induce Marked Necroptosis That Also Occurs in the Brains from the Patients of Human Prion Diseases.

A simple in vitro assay for assessing the efficacy, mechanisms and kinetics of anti-prion fibril compounds.

Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases.

[Clinical, neuroimaging and genetic features of two Chinese families with fatal familial insomnia].

Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion Diseases.

[Human prion diseases: current issues].

Case of fatal familial insomnia caused by a d178n mutation with phenotypic similarity to Hashimoto's encephalopathy.

Expert Consensus on Clinical Diagnostic Criteria for Fatal Familial Insomnia.

Fatal familial insomnia and sporadic fatal insomnia.

Human transmissible spongiform encephalopathies: historic view.

18F-FDG PET Brain in a Patient With Fatal Familial Insomnia.

Mutations Alter RNA-Mediated Conversion of Human Prions.

Fatal familial insomnia presenting with agrypnia excitata and very low atonia index level: A case report and literature review.

Fatal Familial Insomnia Initially Developing Parkinsonism Mimicking Dementia with Lewy Bodies.

Decrease of RyR2 in the prion infected cell line and in the brains of the scrapie infected mice models and the patients of human prion diseases.

The clinical features in Chinese patients with PRNP D178N mutation.

An in vivo 11C-PK PET study of microglia activation in Fatal Familial Insomnia.

Regional and subtype-dependent miRNA signatures in sporadic Creutzfeldt-Jakob disease are accompanied by alterations in miRNA silencing machinery and biogenesis.

Genetic and Rare Disease of the CNS. Part I: Fatal Familial Insomnia (FFI).

Agrypnia excitata and obstructive apnea in a patient with fatal familial insomnia from China: A case report.

The associations of two SNPs in miRNA-146a and one SNP in ZBTB38-RASA2 with the disease susceptibility and the clinical features of the Chinese patients of sCJD and FFI.

The Role of the Mammalian Prion Protein in the Control of Sleep.

Differential overexpression of SERPINA3 in human prion diseases.

YKL-40 in the brain and cerebrospinal fluid of neurodegenerative dementias.

Reduced Abundance and Subverted Functions of Proteins in Prion-Like Diseases: Gained Functions Fascinate but Lost Functions Affect Aetiology.

A review of drug therapy for sporadic fatal insomnia.

INTESTINAL HISTOPLASMOSIS IN A CAPTIVE REINDEER (RANGIFER TARANDUS), MISSOURI, USA.

High diagnostic value of second generation CSF RT-QuIC across the wide spectrum of CJD prions.

Methods for Molecular Diagnosis of Human Prion Disease.

Purification and Fibrillation of Full-Length Recombinant PrP.

Generation of a new infectious recombinant prion: a model to understand Gerstmann-Sträussler-Scheinker syndrome.

Neuropathology of Human Prion Diseases.

Genetic human prion disease modelled in PrP transgenic Drosophila.

Genetic PrP Prion Diseases.

Clinical Features and Sleep Analysis of Chinese Patients with Fatal Familial Insomnia.

Fatal familial insomnia with abnormal signals on routine MRI: a case report and literature review.

Fatal familial insomnia: a video-polysomnographic case report.

Lysosomal Quality Control in Prion Diseases.

Detection of prion seeding activity in the olfactory mucosa of patients with Fatal Familial Insomnia.

Fatal Familial Insomnia: Clinical Aspects and Molecular Alterations.

Fluorodeoxyglucose Positron Emission Tomography (FDG-PET) Correlation of Histopathology and MRI in Prion Disease.

Neuroradiology of human prion diseases, diagnosis and differential diagnosis.

Experimental Models of Inherited PrP Prion Diseases.

Clinical and neuroimaging features of a Chinese patient with fatal familial insomnia.

Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.

Oxidative stress and mitochondrial dysfunction-linked neurodegenerative disorders.

Quantitative Magnetic Resonance Abnormalities in Creutzfeldt-Jakob Disease and Fatal Insomnia.

Prion diseases: immunotargets and therapy.

Sexual disinhibition and agrypnia excitata in fatal familial insomnia.

Human prion diseases: surgical lessons learned from iatrogenic prion transmission.

Towards authentic transgenic mouse models of heritable PrP prion diseases.

Losing sleep over mitochondria: a new player in the pathophysiology of fatal familial insomnia.

Fatal familial insomnia: mitochondrial and protein synthesis machinery decline in the mediodorsal thalamus.

Hereditary Human Prion Diseases: an Update.

Circadian disruption: New clinical perspective of disease pathology and basis for chronotherapeutic intervention.

Epidemiological characteristics of human prion diseases.

Prions in dentistry: A need to be concerned and known.

Atypical parkinsonism caused by Pro105Leu mutation of prion protein: A broad clinical spectrum.

Identification of new molecular alterations in fatal familial insomnia.

Transgenic mice recapitulate the phenotypic heterogeneity of genetic prion diseases without developing prion infectivity: Role of intracellular PrP retention in neurotoxicity.

Creutzfeldt-Jakob disease: updated diagnostic criteria, treatment algorithm, and the utility of brain biopsy.

Clinical, histopathological and genetic studies in a case of fatal familial insomnia with review of the literature.

Proteomic Analyses for the Global S-Nitrosylated Proteins in the Brain Tissues of Different Human Prion Diseases.

Cardiovascular autonomic dysfunctions and sleep disorders.

Molecular dynamics studies on the buffalo prion protein.

Metabolic patterns in prion diseases: an FDG PET voxel-based analysis.

Preventive study in subjects at risk of fatal familial insomnia: Innovative approach to rare diseases.

Transgenic fatal familial insomnia mice indicate prion infectivity-independent mechanisms of pathogenesis and phenotypic expression of disease.

New insights into structural determinants of prion protein folding and stability.

Proteomics analyses for the global proteins in the brain tissues of different human prion diseases.