• 18F-FDG PET Brain in a Patient With Fatal Familial Insomnia
• A case of fatal familial insomnia: diagnostic and therapeutic approaches
• A case report of fatal familial insomnia with cerebrospinal fluid leukocytosis during the COVID-19 epidemic and review of the literature
• A fatal familial insomnia patient newly diagnosed as having depression: A case report
• A simple in vitro assay for assessing the efficacy, mechanisms and kinetics of anti-prion fibril compounds
• A Theoretical Framework on the Biology of Prion Diseases
• Activation of Src family kinase ameliorates secretory trafficking in mutant prion protein cells
• Altered energy metabolism in Fatal Familial Insomnia cerebral organoids is associated with astrogliosis and neuronal dysfunction
• Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value
• Anti-prion drugs do not improve survival in knock-in models of inherited prion disease
• Anti-prion drugs do not improve survival in novel knock-in models of inherited prion disease
• c-Fos expression in the limbic thalamus following thermoregulatory and wake-sleep changes in the rat
• Calcineurin Controls Cellular Prion Protein Expression in Mouse Astrocytes
• Can insomnia be fatal? An Australian case of fatal familial insomnia
• Case of fatal familial insomnia caused by a d178n mutation with phenotypic similarity to Hashimoto's encephalopathy
• Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion Diseases
• Characterization of mutations in <em>PRNP</em> (prion) gene and their possible roles in neurodegenerative diseases
• Clinical characteristics and diagnostics of human spongiform encephalopathies: an update
• Clinical features and genetic characteristics of two Chinese pedigrees with fatal family insomnia
• Clinical manifestations and polysomnography-based analysis in nine cases of probable sporadic Creutzfeldt-Jakob disease
• Clinical profile of fatal familial insomnia: phenotypic variation in 129 polymorphisms and geographical regions
• Clinical profiles and ethnic heterogeneity of sporadic fatal insomnia
• Clinical Reasoning: A 45-year-old man with progressive insomnia and psychiatric and motor symptoms
• Clinical, neuroimaging and genetic features of two Chinese families with fatal familial insomnia
• Cortical and bithalamic hypometabolism by FDG-PET/CT in a patient with sporadic fatal insomnia
• Corticobasal manifestations of Creutzfeldt-Jakob disease with D178N-homozygous 129M genotype
• Creutzfeldt-Jakob Disease and Fatal Familial Insomnia: Demographics and In-Hospital Mortality in Spain
• 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
• Defining the Prion Type of Fatal Familial Insomnia
• Diagnosis of prion diseases by RT-QuIC results in improved surveillance
• Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases
• Diagnostic and prognostic performance of CSF α-synuclein in prion disease in the context of rapidly progressive dementia
• Different post-mortem brain regions from three Chinese FFI patients induce different reactive profiles both in the first and second generation RT-QuIC assays
• Doxycycline rescues recognition memory and circadian motor rhythmicity but does not prevent terminal disease in fatal familial insomnia mice
• Dysfunction of the cardiac parasympathetic system in fatal familial insomnia: a heart rate variability study
• Efficient transmission of human prion diseases to a glycan-free prion protein-expressing host
• Estimation of the number of inherited prion disease mutation carriers in the UK
• Evaluation of Human Cerebrospinal Fluid Malate Dehydrogenase 1 as a Marker in Genetic Prion Disease Patients
• Expert Consensus on Clinical Diagnostic Criteria for Fatal Familial Insomnia
• Fatal Familial Insomnia
• Fatal Familial Insomnia
• Fatal familial insomnia and Agrypnia Excitata: Autonomic dysfunctions and pathophysiological implications
• Fatal familial insomnia and sporadic fatal insomnia
• Fatal Familial Insomnia Initially Developing Parkinsonism Mimicking Dementia with Lewy Bodies
• Fatal familial insomnia presenting with agrypnia excitata and very low atonia index level: A case report and literature review
• Fatal Familial Insomnia with Early Dysautonomia and Diabetes
• Fatal Familial Insomnia With Significant Correlations Between Involuntary Movements and Postural Changes:Report of One Case
• Fatal familial insomnia: A new case description with early response to immunotherapy
• Fatal Familial Insomnia: A Rare Disease with Unique Clinico-Neurophysiological Features
• Fatal insomnia: the elusive prion disease
• From parasomnia to agrypnia excitata - An illustrative case on diagnostic approach
• Genetic and Rare Disease of the CNS. Part II: Holoprosencephaly (HPE)
• Genetic aspects of human prion diseases
• Genetic counseling for prion disease: Updates and best practices
• Genetic Creutzfeldt-Jakob disease shows fatal family insomnia phenotype
• Genetic prion disease: D178N with 129MV disease modifying polymorphism-a clinical phenotype
• Genetic Prion Disease: Insight from the Features and Experience of China National Surveillance for Creutzfeldt-Jakob Disease
• Genetic Variants Associated with the Age of Onset Identified by Whole-Exome Sequencing in Fatal Familial Insomnia
• Human prion diseases and the prion protein - what is the current state of knowledge?
• Human prion diseases: An overview
• Human prion diseases: current issues
• Human transmissible spongiform encephalopathies: historic view
• JNO Literature Commentary
• Kuru
• Kuru
• Mediodorsal thalamus lesion increases paradoxical sleep in rats
• Met/Val129 polymorphism of the full-length human prion protein dictates distinct pathways of amyloid formation
• MicroRNAs in Prion Diseases-From Molecular Mechanisms to Insights in Translational Medicine
• Movement Disorders in Prionopathies: A Systematic Review
• Mutations Alter RNA-Mediated Conversion of Human Prions
• Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review
• Neuro-Ophthalmological Findings in Early Fatal Familial Insomnia
• Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification
• Plasma neurofilament light chain as a biomarker for fatal familial insomnia
• PMCA-generated prions from the olfactory mucosa of patients with Fatal Familial Insomnia cause prion disease in mice
• Postural instability and backward leaning in a patient of familial fatal insomnia with positive SOX1 antibodies
• Preventive pharmacological treatment in subjects at risk for fatal familial insomnia: science and public engagement
• Prion dimer is heterogenous and is modulated by multiple negative and positive motifs
• Prion Disease
• Prion diseases or transmissible spongiform encephalopathies
• Prion Mutations in Republic of Republic of Korea, China, and Japan
• Proposal of new diagnostic criteria for fatal familial insomnia
• Reply to: Fatal Familial Insomnia: A Rare Disease with Unique Clinico-Neurophysiological Features
• Selective Vulnerability to Neurodegenerative Disease: Insights from Cell Type-Specific Translatome Studies
• Significant enhanced expressions of aquaporin-1, -4 and -9 in the brains of various prion diseases
• Sleep architecture and sleep-disordered breathing in fatal insomnia
• Sleep in Gerstmann-Straüssler-Scheinker disease
• Specific structuro-metabolic pattern of thalamic subnuclei in fatal familial insomnia: A PET/MRI imaging study
• 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
• Stridor during sleep: description of 81 consecutive cases diagnosed in a tertiary sleep disorders center
• 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
• The rhythms of AMBEs (arousal-related motor behavioral episodes) in Agrypnia Excitata: a video motor analysis
• Thirty years of fatal familial insomnia and autonomic research: celebrating the past, embracing the future
• Translatome profiling in fatal familial insomnia implicates TOR signaling in somatostatin neurons
• TREM2 expression in the brain and biological fluids in prion diseases
• Two distinct prions in fatal familial insomnia and its sporadic form
• Updated global epidemiology atlas of human prion diseases
• V180I genetic Creutzfeldt-Jakob disease: Severe degeneration of the inferior olivary nucleus in an autopsied patient with identification of the M2T prion strain
• Variably protease-sensitive prionopathy
• Virus Infection, Genetic Mutations, and Prion Infection in Prion Protein Conversion