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Analysis of Conformational Stability of Abnormal Prion Protein Aggregates across the Spectrum of Creutzfeldt-Jakob Disease PrionsHuman prion diseases in the Netherlands (1998-2009): clinical, genetic and molecular aspects.Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP.Brain magnetic resonance metabolic and microstructural changes in adult-onset autosomal dominant leukodystrophy.A subtype of sporadic prion disease mimicking fatal familial insomnia.Lamin B1 overexpression increases nuclear rigidity in autosomal dominant leukodystrophy fibroblasts.Variably protease-sensitive prionopathy: a new sporadic disease of the prion protein.Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients.Lack of association between five serotonin metabolism-related genes and medication overuse headache.Quantifying prion disease penetrance using large population control cohortsAnalysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.Revisiting the Heidenhain Variant of Creutzfeldt-Jakob Disease: Evidence for Prion Type Variability Influencing Clinical Course and Laboratory FindingsMagnetic resonance diagnostic markers in clinically sporadic prion disease: a combined brain magnetic resonance imaging and spectroscopy study.Incidence and spectrum of sporadic Creutzfeldt-Jakob disease variants with mixed phenotype and co-occurrence of PrPSc types: an updated classificationDiagnostic 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.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.Characterization of the F198S prion protein mutation: enhanced glycosylation and defective refolding.Towards an early clinical diagnosis of sporadic CJD VV2 (ataxic type).Spine Topographical Distribution of Skin α-Synuclein Deposits in Idiopathic Parkinson Disease.Messenger RNA processing is altered in autosomal dominant leukodystrophyHigh diagnostic value of second generation CSF RT-QuIC across the wide spectrum of CJD prions.An atypical phenotype of CJD associated with the E200K mutation in the prion protein gene.Type 1 protease resistant prion protein and valine homozygosity at codon 129 of PRNP identify a subtype of sporadic Creutzfeldt-Jakob disease.Molecular evidence of founder effects of fatal familial insomnia through SNP haplotypes around the D178N mutation.Insomnia associated with thalamic involvement in E200K Creutzfeldt-Jakob disease.Gait disorders in fatal familial insomnia.R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease.Prion disease: diagnostic value of cerebrospinal fluid markers.Behçet disease presenting with movement disorders and antibasal ganglia antibodies.Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.Mixed brain pathologies in dementia: the BrainNet Europe consortium experience.Striatal [123I] FP-CIT SPECT demonstrates dopaminergic deficit in a sporadic case of Creutzfeldt-Jakob disease.The first case of fatal familial insomnia (FFI) in the Netherlands: a patient from Egyptian descent with concurrent four repeat tau deposits.Pterandric acid--its isolation, synthesis and stereochemistry.Mutant PrPCJD prevails over wild-type PrPCJD in the brain of V210I and R208H genetic Creutzfeldt-Jakob disease patients.Atypical Creutzfeldt-Jakob disease with PrP-amyloid plaques in white matter: molecular characterization and transmission to bank voles show the M1 strain signature.An in vivo 11C-PK PET study of microglia activation in Fatal Familial Insomnia.Mice overexpressing lamin B1 in oligodendrocytes recapitulate the age-dependent motor signs, but not the early autonomic cardiovascular dysfunction of autosomal-dominant leukodystrophy (ADLD).Creutzfeldt-Jakob disease with long duration and panencephalopathic lesions: molecular analysis of one case.Prion encephalopathy with insertion of octapeptide repeats: the number of repeats determines the type of cerebellar deposits.
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researcher ORCID ID = 0000-0003-1631-1439
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Sabina Capellari
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Sabina Capellari
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Sabina Capellari
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Sabina Capellari
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Sabina Capellari
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Sabina Capellari
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Sabina Capellari
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Sabina Capellari
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sabina capellari
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Sabina Capellari
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Sabina Capellari
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Sabina Capellari
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Sabina Capellari
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0000-0003-1631-1439