All Stories

  1. Improving protocols for α-synuclein seed amplification assays: analysis of preanalytical and analytical variables and identification of candidate parameters for seed quantification
  2. Cerebrospinal fluid biormarkers in the frontotemporal dementia spectrum
  3. Clinical Reasoning: Rapidly progressive dementia in a patient with HIV after an exotic journey
  4. Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum
  5. Sporadic Fatal Insomnia in Europe: Phenotypic Features and Diagnostic Challenges
  6. Age of onset in genetic prion disease and the design of preventive clinical trials
  7. Unusual Clinical Presentations Challenging the Early Clinical Diagnosis of Creutzfeldt-Jakob Disease
  8. Age at onset of genetic (E200K) and sporadic Creutzfeldt-Jakob diseases is modulated by theCYP4X1gene
  9. A novel prion protein gene-truncating mutation causing autonomic neuropathy and diarrhea
  10. LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study
  11. Identification of rare genetic variants in patients with dementia by targeted gene sequencing.
  12. Rapidly Progressive Alzheimer’s Disease: Contributions to Clinical-Pathological Definition and Diagnosis
  13. Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis
  14. Prion protein quantification in cerebrospinal fluid as a tool for prion disease drug development
  15. Regional pattern of microgliosis in sporadic Creutzfeldt-Jakob disease in relation to phenotypic variants and disease progression
  16. The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on C9orf72 RE: Clinical Heterogeneity and Oligogenic Inheritance
  17. Familial human prion diseases associated with prion protein mutations Y226X and G131V are transmissible to transgenic mice expressing human prion protein
  18. Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy
  19. The CSF neurofilament light signature in rapidly progressive neurodegenerative dementias
  20. Iatrogenic Creutzfeldt-Jakob disease with Amyloid-β pathology: an international study
  21. Sporadic Creutzfeldt–Jakob disease
  22. An in vivo 11 C-PK PET study of microglia activation in Fatal Familial Insomnia
  23. Atypical Creutzfeldt-Jakob disease with PrP-amyloid plaques in white matter: molecular characterization and transmission to bank voles show the M1 strain signature
  24. High diagnostic value of second generation CSF RT-QuIC across the wide spectrum of CJD prions
  25. Towards an early clinical diagnosis of sporadic CJD VV2 (ataxic type)
  26. Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature
  27. Iodine-123-meta-iodobenzylguanidine Myocardial Scintigraphy in Isolated Autonomic Failure: Potential Red Flag for Future Multiple System Atrophy
  28. Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutation
  29. 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
  30. Diagnostic Accuracy of a Combined Analysis of Cerebrospinal Fluid t-PrP, t-tau, p-tau, and Aβ42 in the Differential Diagnosis of Creutzfeldt-Jakob Disease from Alzheimer’s Disease with Emphasis on Atypical Disease Variants
  31. Patient with rapidly evolving neurological disease with neuropathological lesions of Creutzfeldt-Jakob disease, Lewy body dementia, chronic subcortical vascular encephalopathy and meningothelial meningioma
  32. Cerebrospinal fluid real-time quaking-induced conversion is a robust and reliable test for sporadic creutzfeldt-jakob disease: An international study
  33. Analysis of Conformational Stability of Abnormal Prion Protein Aggregates across the Spectrum of Creutzfeldt-Jakob Disease Prions
  34. Distinctive properties of plaque-type dura mater graft-associated Creutzfeldt–Jakob disease in cell-protein misfolding cyclic amplification
  35. Quantifying prion disease penetrance using large population control cohorts
  36. Neuropathological and biochemical criteria to identify acquired Creutzfeldt-Jakob disease among presumed sporadic cases
  37. Revisiting the Heidenhain Variant of Creutzfeldt-Jakob Disease: Evidence for Prion Type Variability Influencing Clinical Course and Laboratory Findings
  38. Messenger RNA processing is altered in autosomal dominant leukodystrophy
  39. Transmission Properties of Atypical Creutzfeldt-Jakob Disease: a Clue to Disease Etiology?
  40. Creutzfeldt–Jakob disease masked by head trauma and features of Wilson's disease
  41. Wait and see: a 5 year history of 'recurrent dementia'
  42. Mutant PrPCJD prevails over wild-type PrPCJD in the brain of V210I and R208H genetic Creutzfeldt–Jakob disease patients
  43. Creutzfeldt–Jakob disease manifesting as stroke mimic in a 78-year-old patient: Pitfalls and tips in the diagnosis
  44. Primary progressive narcolepsy type 1: The other side of the coin
  45. Neuropathological assessments of the pathology in frontotemporal lobar degeneration with TDP43-positive inclusions: an inter-laboratory study by the BrainNet Europe consortium
  46. Pearls & Oy-sters: Rapidly progressive dementia: Prions or immunomediated?
  47. Narcolepsy is a common phenotype in HSAN IE and ADCA-DN
  48. Maternally inherited genetic variants ofCADPS2are present in Autism Spectrum Disorders and Intellectual Disability patients
  49. A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder
  50. Gait disorders in fatal familial insomnia
  51. R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease
  52. Analyses of Protease Resistance and Aggregation State of Abnormal Prion Protein across the Spectrum of Human Prions
  53. CSF biomarker variability in the Alzheimer's Association quality control program
  54. Prion Protein Misfolding, Strains, and Neurotoxicity: An Update from Studies on Mammalian Prions
  55. Diagnostic value of cerebrospinal fluid markers
  56. The need to unify neuropathological assessments of vascular alterations in the ageing brain
  57. Atypical neuropathological sCJD-MM phenotype with abundant white matter Kuru-type plaques sparing the cerebellar cortex
  58. Selection of novel reference genes for use in the human central nervous system: a BrainNet Europe Study
  59. Consensus classification of human prion disease histotypes allows reliable identification of molecular subtypes: an inter-rater study among surveillance centres in Europe and USA
  60. Human Prion Diseases in The Netherlands (1998–2009): Clinical, Genetic and Molecular Aspects
  61. Divergent clinical and neuropathological phenotype in a Gerstmann-Sträussler-Scheinker P102L family
  62. Creutzfeldt-Jakob Disease: an under-Recognized Cause of Dementia
  63. Sporadic Creutzfeldt-Jakob Disease
  64. Fatal Familial and Sporadic Insomnia
  65. Genetic Creutzfeldt-Jakob Disease
  66. A Second Case of Gerstmann-Sträussler-Scheinker Disease Linked to the G131V Mutation in the Prion Protein Gene in a Dutch Patient
  67. The first case of fatal familial insomnia (FFI) in the Netherlands: a patient from Egyptian descent with concurrent four repeat tau deposits
  68. New lexicon and criteria for the diagnosis of Alzheimer's disease
  69. Phenotypic variability of sporadic human prion disease and its molecular basis: past, present, and future
  70. Genetic Creutzfeldt–Jakob disease and fatal familial insomnia: insights into phenotypic variability and disease pathogenesis
  71. Agent strain variation in human prion disease: insights from a molecular and pathological review of the National Institutes of Health series of experimentally transmitted disease
  72. An atypical phenotype of CJD associated with the E200K mutation in the prion protein gene
  73. Variably protease-sensitive prionopathy: A new sporadic disease of the prion protein
  74. Reply to Kascsak: Definition of the PrP 3F4 Epitope Revisited
  75. A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann–Sträussler–Scheinker disease phenotype: comparison with similar cases from the literature
  76. PrP Conformational Transitions Alter Species Preference of a PrP-specific Antibody
  77. Multiorgan Detection and Characterization of Protease-Resistant Prion Protein in a Case of Variant CJD Examined in the United States
  78. Cathepsin D (C224T) Polymorphism in Sporadic and Genetic Creutzfeldt-Jakob Disease
  79. Inherited Creutzfeldt-Jakob disease in a Dutch patient with a novel five octapeptide repeat insertion and unusual cerebellar morphology
  80. Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP
  81. Magnetic resonance diagnostic markers in clinically sporadic prion disease: a combined brain magnetic resonance imaging and spectroscopy study
  82. Co-existence of scrapie prion protein types 1 and 2 in sporadic Creutzfeldt–Jakob disease: its effect on the phenotype and prion-type characteristics
  83. Incidence and spectrum of sporadic Creutzfeldt–Jakob disease variants with mixed phenotype and co-occurrence of PrPSc types: an updated classification
  84. Creutzfeldt–Jakob disease with E200K PRNP mutation: a case report and revision of the literature
  85. Inter-Laboratory Assessment of PrPScTyping in Creutzfeldt-Jakob Disease: A Western Blot Study within the NeuroPrion Consortium
  86. A case of fatal familial insomnia in Africa
  87. Pathologic correlates of diffusion MRI changes in Creutzfeldt-Jakob disease
  88. Staging/typing of Lewy body related α-synuclein pathology: a study of the BrainNet Europe Consortium
  89. Assessment of β-amyloid deposits in human brain: a study of the BrainNet Europe Consortium
  90. 'Agrypnia excitata' in a case of sporadic Creutzfeldt-Jakob disease VV2
  91. Striatal [123I] FP-CIT SPECT demonstrates dopaminergic deficit in a sporadic case of Creutzfeldt-Jakob disease
  92. Diffusion-weighted brain imaging study of patients with clinical diagnosis of corticobasal degeneration, progressive supranuclear palsy and Parkinson's disease
  93. Staging of Neurofibrillary Pathology in Alzheimer's Disease: A Study of the BrainNet Europe Consortium
  94. Characterization of Truncated Forms of Abnormal Prion Protein in Creutzfeldt-Jakob Disease
  95. Brain banks: benefits, limitations and cautions concerning the use of post-mortem brain tissue for molecular studies
  96. Management of a twenty-first century brain bank: experience in the BrainNet Europe consortium
  97. Inter-laboratory comparison of neuropathological assessments of β-amyloid protein: a study of the BrainNet Europe consortium
  98. SPORADIC FATAL INSOMNIA IN A FATAL FAMILIAL INSOMNIA PEDIGREE
  99. Erratum
  100. Assessment of α-Synuclein Pathology: A Study of the BrainNet Europe Consortium
  101. Mixed Brain Pathologies in Dementia: The BrainNet Europe Consortium Experience
  102. A refined method for molecular typing reveals that co-occurrence of PrPSc types in Creutzfeldt–Jakob disease is not the rule
  103. Effects of Formalin Fixation, Paraffin Embedding, and Time of Storage on DNA Preservation in Brain Tissue: A BrainNet Europe Study
  104. Brain Protein Preservation Largely Depends on the Postmortem Storage Temperature
  105. MV2 subtype of sporadic Creutzfeldt-Jakob disease presenting as corticobasal syndrome
  106. How a neuropsychiatric brain bank should be run: a consensus paper of Brainnet Europe II
  107. Classification of sporadic Creutzfeldt-Jakob disease revisited
  108. Interlaboratory Comparison of Assessments of Alzheimer Disease-Related Lesions: A Study of the BrainNet Europe Consortium
  109. Molecular Pathology of Fatal Familial Insomnia
  110. Neuronal Apoptosis in Fatal Familial Insomnia
  111. Prions in Humans and Animals
  112. Pre-symptomatic diagnosis in fatal familial insomnia: serial neurophysiological and 18FDG-PET studies
  113. Expression of Excitatory Amino Acid Transporter-1 (EAAT-1) in Brain Macrophages and Microglia of Patients with Prion Diseases
  114. Effects of Different Experimental Conditions on the PrPScCore Generated by Protease Digestion
  115. Identification of Novel Proteinase K-resistant C-terminal Fragments of PrP in Creutzfeldt-Jakob Disease
  116. Sporadic and familial CJD: classification and characterisation
  117. Abbreviated incubation times for human prions in mice expressing a chimeric mouse–human prion protein transgene
  118. Hereditary Creutzfeldt-Jakob disease and fatal familial insomnia
  119. A French cluster of Creutzfeldt-Jakob disease: a molecular analysis
  120. Effect of the E200K Mutation on Prion Protein Metabolism
  121. Intracerebral distribution of the abnormal isoform of the prion protein in sporadic Creutzfeldt-Jakob disease and fatal insomnia
  122. PrPSc typing by N-terminal sequencing and mass spectrometry
  123. Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects
  124. A novel phenotype in familial Creutzfeldt-Jakob disease: Prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein
  125. Insomnia in Prion Diseases: Sporadic and Familial
  126. Abnormal Diffusion-Weighted Magnetic Resonance Images in Creutzfeldt-Jakob Disease
  127. Tau gene mutation in familial progressive subcortical gliosis
  128. Different patterns of truncated prion protein fragments correlate with distinct phenotypes in P102L Gerstmann–Sträussler–Scheinker disease
  129. Prion encephalopathy with insertion of octapeptide repeats: the number of repeats determines the type of cerebellar deposits
  130. Mechanisms of Phenotypic Heterogeneity in Human Prion Diseases
  131. Power Spectral Analysis of Heart Rate and Diastolic Blood Pressure Variability in Migraine with and Without Aura
  132. Allelic origin of the abnormal prion protein isoform in familial prion diseases
  133. Biopsy diagnosis of Creutzfeldt-Jakob disease by western blot: A case report
  134. Typing prion isoforms
  135. Prion Diseases and Dementia
  136. Evidence for the Conformation of the Pathologic Isoform of the Prion Protein Enciphering and Propagating Prion Diversity
  137. Molecular basis of phenotypic variability in sporadc creudeldt-jakob disease
  138. New topics in familial prion diseases
  139. The neuropathology of chromosome 17-linked dementia
  140. Effect of the D178N Mutation and the Codon 129 Polymorphism on the Metabolism of the Prion Protein
  141. Truncated Forms of the Human Prion Protein in Normal Brain and in Prion Diseases
  142. Human prion diseases
  143. Creutzfeldt-Jakob disease after liver transplantation
  144. Regional distribution of protease-resistant prion protein in fatal familial insomnia
  145. Fatal Familial Insomnia and Familial Creutzfeldt-Jakob Disease: Clinical, Pathological and Molecular Features
  146. Cardiovascular autonomic dysfunction in normotensive awake subjects with obstructive sleep apnoea syndrome
  147. Do Autonomic Cardiovascular Reflexes Predict the Nocturnal Rise in Blood Pressure in Obstructive Sleep Apnea Syndrome?
  148. Isolated failure of noradrenergic transmission in a case with orthostatic hypotension and hyperactivity of gastro-colic reflex
  149. Cardiovascular dysautonomia in fatal familial insomnia
  150. Daily changes of neuropeptide Y-like immunoreactivity in the suprachiasmatic nucleus of the rat
  151. Iodinated-NPY binding sites: Autoradiographic study in the rat brain
  152. History and state of the art of PrP-res “typing” in Creutzfeldt-Jakob disease