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Neurofilament light chain and α-synuclein RT-QuIC as differential diagnostic biomarkers in parkinsonisms and related syndromes.
- Published in:
- NPJ Parkinson's Disease, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41531-021-00232-4
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Creutzfeldt-Jakob disease with E200K PRNP mutation: a case report and revision of the literature.
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- 2009
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- Publication type:
- journal article
Creutzfeldt–Jakob disease with E200K PRNP mutation: a case report and revision of the literature.
- Published in:
- Neurological Sciences, 2009, v. 30, n. 5, p. 417, doi. 10.1007/s10072-009-0118-7
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- Publication type:
- Article
Association between CSF alpha-synuclein seeding activity and genetic status in Parkinson's disease and dementia with Lewy bodies.
- Published in:
- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01276-6
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- Publication type:
- Article
Towards an improved early diagnosis of neurodegenerative diseases: the emerging role of in vitro conversion assays for protein amyloids.
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- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-00990-x
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- Publication type:
- Article
Variable Protease-Sensitive Prionopathy Transmission to Bank Voles.
- Published in:
- 2019
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- Publication type:
- journal article
The Use of Real-Time Quaking-Induced Conversion for the Diagnosis of Human Prion Diseases.
- Published in:
- Frontiers in Aging Neuroscience, 2022, v. 14, p. 1, doi. 10.3389/fnagi.2022.874734
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- Publication type:
- 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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- Publication type:
- Article
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients.
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- EMBO Molecular Medicine, 2014, v. 6, n. 12, p. 1639, doi. 10.15252/emmm.201404829
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- Publication type:
- Article
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients.
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- EMBO Molecular Medicine, 2014, v. 6, n. 6, p. 795, doi. 10.1002/emmm.201303235
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- Publication type:
- 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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- Publication type:
- Article
In vivo detection of Alzheimer's and Lewy body disease concurrence: Clinical implications and future perspectives.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, n. 8, p. 5757, doi. 10.1002/alz.14039
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- Publication type:
- Article
Levels of plasma brain‐derived tau and p‐tau181 in Alzheimer's disease and rapidly progressive dementias.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, n. 1, p. 745, doi. 10.1002/alz.13516
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- Publication type:
- Article
Clinical effects of Lewy body pathology in clinically unimpaired and cognitively impaired individuals – A prospective longitudinal study.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.072852
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- Publication type:
- Article
High diagnostic performance of plasma and cerebrospinal fluid beta‐synuclein in the differential diagnosis of sporadic Creutzfeldt‐Jakob disease.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.071593
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- Publication type:
- Article
Prodynorphin and Proenkephalin in Cerebrospinal Fluid of Sporadic Creutzfeldt–Jakob Disease.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 4, p. 2051, doi. 10.3390/ijms23042051
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- Publication type:
- Article
Spatial Epidemiology of Sporadic Creutzfeldt-Jakob Disease in Apulia, Italy.
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- Neuroepidemiology, 2020, v. 54, n. 1, p. 83, doi. 10.1159/000503234
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- Publication type:
- Article
In vivo assessment of Lewy body and beta-amyloid copathologies in idiopathic normal pressure hydrocephalus: prevalence and associations with clinical features and surgery outcome.
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- Fluids & Barriers of the CNS, 2022, v. 19, n. 1, p. 1, doi. 10.1186/s12987-022-00368-2
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- Publication type:
- 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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- Publication type:
- Article
The CSF neurofilament light signature in rapidly progressive neurodegenerative dementias.
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- Alzheimer's Research & Therapy, 2018, v. 10, p. 1, doi. 10.1186/s13195-017-0331-1
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- Publication type:
- Article
CSF biomarker variability in the Alzheimer's Association quality control program
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2013, v. 9, n. 3, p. 251, doi. 10.1016/j.jalz.2013.01.010
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- Publication type:
- Article
Human Prion Diseases in The Netherlands (1998-2009): Clinical, Genetic and Molecular Aspects.
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- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0036333
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- Publication type:
- Article
Multiorgan Detection and Characterization of Protease- Resistant Prion Protein in a Case of Variant CJD Examined in the United States.
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- PLoS ONE, 2010, v. 5, n. 1, p. 1, doi. 10.1371/journal.pone.0008765
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- Publication type:
- Article
A case of fatal familial insomnia in Africa.
- Published in:
- 2009
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- Publication type:
- Letter
Mixed Brain Pathologies in Dementia: The BrainNet Europe Consortium Experience.
- Published in:
- Dementia & Geriatric Cognitive Disorders, 2008, v. 26, n. 4, p. 343, doi. 10.1159/000161560
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- Publication type:
- Article
The characterization of AD/PART co-pathology in CJD suggests independent pathogenic mechanisms and no cross-seeding between misfolded Aβ and prion proteins.
- Published in:
- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0706-6
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- Publication type:
- Article
Clinicopathological features of the rare form of Creutzfeldt-Jakob disease in R208H-V129V PRNP carrier.
- Published in:
- 2019
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- Publication type:
- Letter
Familial human prion diseases associated with prion protein mutations Y226X and G131V are transmissible to transgenic mice expressing human prion protein.
- Published in:
- Acta Neuropathologica Communications, 2018, v. 6, p. 1, doi. 10.1186/s40478-018-0516-2
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- Publication type:
- Article
Iatrogenic Creutzfeldt-Jakob disease with Amyloid-β pathology: an international study.
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- Acta Neuropathologica Communications, 2018, v. 6, p. 1, doi. 10.1186/s40478-017-0503-z
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- Publication type:
- Article
Atypical Creutzfeldt-Jakob disease with PrP-amyloid plaques in white matter: molecular characterization and transmission to bank voles show the M1 strain signature.
- Published in:
- Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0496-7
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- Publication type:
- Article
Strain-Dependent Morphology of Reactive Astrocytes in Human- and Animal-Vole-Adapted Prions.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 5, p. 757, doi. 10.3390/biom13050757
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- Publication type:
- Article
CSF Ubiquitin Levels Are Higher in Alzheimer's Disease than in Frontotemporal Dementia and Reflect the Molecular Subtype in Prion Disease.
- Published in:
- Biomolecules (2218-273X), 2020, v. 10, n. 4, p. 497, doi. 10.3390/biom10040497
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- Publication type:
- Article
Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.
- Published in:
- Frontiers in Aging Neuroscience, 2022, v. 14, p. 1, doi. 10.3389/fnagi.2022.969817
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- Publication type:
- Article
Cerebrospinal Fluid and Blood Neurofilament Light Chain Protein in Prion Disease and Other Rapidly Progressive Dementias: Current State of the Art.
- Published in:
- Frontiers in Neuroscience, 2021, v. 15, p. N.PAG, doi. 10.3389/fnins.2021.648743
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- Publication type:
- Article
Kinetic parameters of alpha-synuclein seed amplification assay correlate with cognitive impairment in patients with Lewy body disorders.
- Published in:
- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01653-3
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- Publication type:
- Article
Genomic, transcriptomic and RNA editing analysis of human MM1 and VV2 sporadic Creutzfeldt-Jakob disease.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01483-9
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- Publication type:
- Article
MRI Signature of α-Synuclein Pathology in Asymptomatic Stages and a Memory Clinic Population.
- Published in:
- JAMA Neurology, 2024, v. 81, n. 10, p. 1051, doi. 10.1001/jamaneurol.2024.2713
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- Publication type:
- Article
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 6, p. 1643, doi. 10.1093/brain/awu069
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- Publication type:
- Article
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.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 10, p. 3030, doi. 10.1093/brain/awq234
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- Publication type:
- Article
Co-existence of scrapie prion protein types 1 and 2 in sporadic Creutzfeldt-Jakob disease: its effect on the phenotype and prion-type characteristics.
- Published in:
- 2009
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- Publication type:
- journal article
Magnetic resonance diagnostic markers in clinically sporadic prion disease: a combined brain magnetic resonance imaging and spectroscopy study.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 10, p. 2669, doi. 10.1093/brain/awp210
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- Publication type:
- Article
Co-existence of scrapie prion protein types 1 and 2 in sporadic Creutzfeldt–Jakob disease: its effect on the phenotype and prion-type characteristics.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 10, p. 2643, doi. 10.1093/brain/awp196
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- Publication type:
- Article
Diffusion-weighted brain imaging study of patients with clinical diagnosis of corticobasal degeneration, progressive supranuclear palsy and Parkinsons disease.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 10, p. 2690, doi. 10.1093/brain/awn195
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- Publication type:
- Article
Classification of sporadic Creutzfeldt–Jakob disease revisited.
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 9, p. 2266, doi. 10.1093/brain/awl224
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- Publication type:
- Article
Pre-symptomatic diagnosis in fatal familial insomnia: serial neurophysiological and 18FDG-PET studies.
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 3, p. 668, doi. 10.1093/brain/awl003
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- Publication type:
- Article
Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP.
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- Acta Neuropathologica, 2010, v. 119, n. 2, p. 189, doi. 10.1007/s00401-009-0609-x
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- Publication type:
- Article
Incidence and spectrum of sporadic Creutzfeldt–Jakob disease variants with mixed phenotype and co-occurrence of PrP<sup>Sc</sup> types: an updated classification.
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- Acta Neuropathologica, 2009, v. 118, n. 5, p. 659, doi. 10.1007/s00401-009-0585-1
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- Publication type:
- Article
Staging/typing of Lewy body related α-synuclein pathology: a study of the BrainNet Europe Consortium.
- Published in:
- Acta Neuropathologica, 2009, v. 117, n. 6, p. 635, doi. 10.1007/s00401-009-0523-2
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- Publication type:
- Article