Works matching AU Parchi, Piero
Results: 143
Early onset sleep disorders predict severity, progression and death in multiple system atrophy.
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- Journal of Neurology, 2025, v. 272, n. 3, p. 1, doi. 10.1007/s00415-025-12969-6
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- Article
Rapidly progressive multiple system atrophy in a patient carrying LRRK2 G2019S mutation.
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- Neurological Sciences, 2024, v. 45, n. 1, p. 309, doi. 10.1007/s10072-023-07056-5
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- Article
An atypical phenotype of CJD associated with the E200K mutation in the prion protein gene.
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- Neurological Sciences, 2010, v. 31, n. 6, p. 837, doi. 10.1007/s10072-010-0388-0
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- Article
Strain-Dependent Morphology of Reactive Astrocytes in Human- and Animal-Vole-Adapted Prions.
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- Biomolecules (2218-273X), 2023, v. 13, n. 5, p. 757, doi. 10.3390/biom13050757
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- Article
CSF Ubiquitin Levels Are Higher in Alzheimer's Disease than in Frontotemporal Dementia and Reflect the Molecular Subtype in Prion Disease.
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- Biomolecules (2218-273X), 2020, v. 10, n. 4, p. 497, doi. 10.3390/biom10040497
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- Article
Duodenal alpha-Synuclein pathology and enteric gliosis in advanced Parkinson’s Disease patients.
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- Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2022, v. 126, p. 225
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- Article
Gait disorders in fatal familial insomnia.
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- Movement Disorders, 2014, v. 29, n. 3, p. 420, doi. 10.1002/mds.25786
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- Article
MV2 subtype of sporadic Creutzfeldt-Jakob disease presenting as corticobasal syndrome.
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- Movement Disorders, 2007, v. 22, n. 6, p. 898, doi. 10.1002/mds.21426
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- Article
MRI Signature of α-Synuclein Pathology in Asymptomatic Stages and a Memory Clinic Population.
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- JAMA Neurology, 2024, v. 81, n. 10, p. 1051, doi. 10.1001/jamaneurol.2024.2713
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- Article
Variable Protease-Sensitive Prionopathy Transmission to Bank Voles.
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- 2019
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- journal article
Clinical, neuropathological, and molecular characteristics of rapidly progressive dementia with Lewy bodies: a distinct clinicopathological entity?
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- Alzheimer's Research & Therapy, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13195-024-01565-x
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- Article
Diagnostic and prognostic value of cerebrospinal fluid SNAP-25 and neurogranin in Creutzfeldt-Jakob disease in a clinical setting cohort of rapidly progressive dementias.
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- Alzheimer's Research & Therapy, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13195-023-01300-y
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- Article
Prion Protein Misfolding, Strains, and Neurotoxicity: An Update from Studies on Mammalian Prions.
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- International Journal of Cell Biology, 2013, p. 1, doi. 10.1155/2013/910314
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- Article
Rapidly progressive dementia due to intravascular lymphoma: A prion disease reference center experience.
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- European Journal of Neurology, 2024, v. 31, n. 1, p. 1, doi. 10.1111/ene.16068
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- Article
Molecular pathology, classification, and diagnosis of sporadic human prion disease variants.
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- Folia Neuropathologica, 2012, v. 50, n. 1, p. 20
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- Article
Plasma and CSF Neurofilament Light Chain in Amyotrophic Lateral Sclerosis: A Cross-Sectional and Longitudinal Study.
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- Frontiers in Aging Neuroscience, 2021, v. 13, p. 1, doi. 10.3389/fnagi.2021.753242
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- Article
CSF biomarkers of neuroinflammation in distinct forms and subtypes of neurodegenerative dementia.
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- Alzheimer's Research & Therapy, 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13195-019-0562-4
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- Article
Frequency of Parkinson's Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study.
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- Genes, 2022, v. 13, n. 8, p. 1306, doi. 10.3390/genes13081306
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- Article
Phenotypic Heterogeneity of Variably Protease-Sensitive Prionopathy: A Report of Three Cases Carrying Different Genotypes at PRNP Codon 129.
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- Viruses (1999-4915), 2022, v. 14, n. 2, p. 367, doi. 10.3390/v14020367
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- Article
The First Sporadic Creutzfeldt–Jakob Disease Case with a Rare Molecular Subtype VV1 and 1-Octapeptide Repeat Deletion in PRNP.
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- 2021
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- Case Study
Sporadic and familial CJD: classification and characterisation.
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- British Medical Bulletin, 2003, v. 66, n. 1, p. 213, doi. 10.1093/bmb/66.1.213
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- Article
P.213: Prion disease associated with diarrhea and autonomic neuropathy: Phenotypic and genetic characterization of an Italian family.
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- Prion, 2014, v. 8, p. 127
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- Article
P.210: Further characterization of PK-resistant PrPSc core fragments in sporadic CJD brains carrying VV or MV at PRNP codon 129.
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- Prion, 2014, v. 8, p. 125
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- Article
P.209: Diagnostic value of surrogate cerebrospinal fluid biomarkers for the clinical diagnosis of Creutzfeldt-Jakob disease: A 10-year review from a CJD referral laboratory.
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- Prion, 2014, v. 8, p. 125
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- Article
P.203: Conformational stability of PrP<sup>Sc</sup> aggregates in sporadic Creutzfeldt-Jakob disease.
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- Prion, 2014, v. 8, p. 121
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- Article
P.193: Interlaboratory optimisation, harmonisation and standardisation of CSF RT-QuIC in the diagnosis of sCJD.
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- Prion, 2014, v. 8, p. 116
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- Article
P.187: Analysis of RNA expression profiles to identify molecular pathways underlying Creutzfeldt-Jakob disease pathogenesis.
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- Prion, 2014, v. 8, p. 113
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- Article
Recent advances in the histo‐molecular pathology of human prion disease.
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- Brain Pathology, 2019, v. 29, n. 2, p. 278, doi. 10.1111/bpa.12695
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- Article
Inter-Laboratory Assessment of PrP<sup>Sc</sup> Typing in Creutzfeldt–Jakob Disease: A Western Blot Study within the NeuroPrion Consortium.
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- Brain Pathology, 2009, v. 19, n. 3, p. 384, doi. 10.1111/j.1750-3639.2008.00187.x
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- Article
Effects of Formalin Fixation, Paraffin Embedding, and Time of Storage on DNA Preservation in Brain Tissue: A BrainNet Europe Study.
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- Brain Pathology, 2007, v. 17, n. 3, p. 297, doi. 10.1111/j.1750-3639.2007.00073.x
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- Article
Neuronal Apoptosis in Fatal Familial Insomnia.
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- Brain Pathology, 1998, v. 8, n. 3, p. 531, doi. 10.1111/j.1750-3639.1998.tb00175.x
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- Article
Molecular Pathology of Fatal Familial Insomnia.
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- Brain Pathology, 1998, v. 8, n. 3, p. 539, doi. 10.1111/j.1750-3639.1998.tb00176.x
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- Article
Fatal Familial Insomnia and Familial Creutzfeldt-Jakob Disease: Clinical, Pathological and Molecular Features.
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- Brain Pathology, 1995, v. 5, n. 1, p. 43, doi. 10.1111/j.1750-3639.1995.tb00576.x
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- Article
Linking the phenotype of SNCA Triplication with PET-MRI imaging pattern and alpha-synuclein CSF seeding.
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- NPJ Parkinson's Disease, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41531-022-00379-8
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- Article
Neurofilament light chain and α-synuclein RT-QuIC as differential diagnostic biomarkers in parkinsonisms and related syndromes.
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- NPJ Parkinson's Disease, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41531-021-00232-4
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- Article
Improving protocols for α-synuclein seed amplification assays: analysis of preanalytical and analytical variables and identification of candidate parameters for seed quantification.
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- Clinical Chemistry & Laboratory Medicine, 2024, v. 62, n. 10, p. 2001, doi. 10.1515/cclm-2023-1472
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- Article
Genetic Creutzfeldt-Jakob disease in Sardinia: a case series linked to the PRNP R208H mutation due to a single founder effect.
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- Neurogenetics, 2020, v. 21, n. 4, p. 251, doi. 10.1007/s10048-020-00618-1
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- Article
First case of an UBQLN2 gene mutation causing frontotemporal dementia preceded by adult onset psychiatric symptoms.
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- 2020
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- Report
Understanding Prion Strains: Evidence from Studies of the Disease Forms Affecting Humans.
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- Viruses (1999-4915), 2019, v. 11, n. 4, p. 309, doi. 10.3390/v11040309
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- Article
Neurofilaments in motor neuron disorders: towards promising diagnostic and prognostic biomarkers.
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- Molecular Neurodegeneration, 2020, v. 15, n. 1, p. N.PAG, doi. 10.1186/s13024-020-00406-3
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- Article
Defining the phenotypic spectrum of sporadic Creutzfeldt–Jakob disease MV2K: the kuru plaque type.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3289, doi. 10.1093/brain/awad074
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- Article
Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects.
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- Annals of Neurology, 1999, v. 46, n. 2, p. 224, doi. 10.1002/1531-8249(199908)46:2<224::AID-ANA12>3.0.CO;2-W
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- Article
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.
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- Annals of Neurology, 1999, v. 45, n. 6, p. 812, doi. 10.1002/1531-8249(199906)45:6<812::AID-ANA20>3.0.CO;2-2
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- Article
Molecular basis of phenotypic variability in sporadc creudeldt-jakob disease.
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- Annals of Neurology, 1996, v. 39, n. 6, p. 767, doi. 10.1002/ana.410390613
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- Article
Creutzfeldt-Jakob disease after liver transplantation.
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- Annals of Neurology, 1995, v. 38, n. 2, p. 269, doi. 10.1002/ana.410380223
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- Article
Regional distribution of protease-resistant prion protein in fatal familial insomnia.
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- Annals of Neurology, 1995, v. 38, n. 1, p. 21, doi. 10.1002/ana.410380107
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- Article
Analysis of RNA Expression Profiles Identifies Dysregulated Vesicle Trafficking Pathways in Creutzfeldt-Jakob Disease.
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- Molecular Neurobiology, 2019, v. 56, n. 7, p. 5009, doi. 10.1007/s12035-018-1421-1
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- Article
Performance of a seed amplification assay for misfolded alpha-synuclein in cerebrospinal fluid and brain tissue in relation to Lewy body disease stage and pathology burden.
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- Acta Neuropathologica, 2024, v. 147, n. 1, p. 1, doi. 10.1007/s00401-023-02663-0
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- Article
Phenotypic diversity of genetic Creutzfeldt–Jakob disease: a histo-molecular-based classification.
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- Acta Neuropathologica, 2021, v. 142, n. 4, p. 707, doi. 10.1007/s00401-021-02350-y
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- Article
LRP10 interacts with SORL1 in the intracellular vesicle trafficking pathway in non-neuronal brain cells and localises to Lewy bodies in Parkinson's disease and dementia with Lewy bodies.
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- Acta Neuropathologica, 2021, v. 142, n. 1, p. 117, doi. 10.1007/s00401-021-02313-3
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- Article