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Lista de obras de Bernardino F. Ghetti

4-Repeat tau seeds and templating subtypes as brain and CSF biomarkers of frontotemporal lobar degeneration

artículo científico publicado en 2019

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

artículo científico publicado en 2013

A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum

artículo científico publicado en 2002

A single ultrasensitive assay for detection and discrimination of tau aggregates of Alzheimer and Pick diseases

artículo científico publicado en 2020

APP mutations in the Aβ coding region are associated with abundant cerebral deposition of Aβ38.

artículo científico publicado en 2012

Aberrantly regulated proteins in frontotemporal dementia

artículo científico publicado en 2006

Abeta42-driven cerebral amyloidosis in transgenic mice reveals early and robust pathology

artículo científico publicado en 2006

Abnormal iron metabolism and oxidative stress in mice expressing a mutant form of the ferritin light polypeptide gene

artículo científico publicado en 2009

Abnormal iron metabolism in fibroblasts from a patient with the neurodegenerative disease hereditary ferritinopathy ⬇️

artículo científico publicado el 10 de noviembre de 2010

Abundant neuritic inclusions and microvacuolar changes in a case of diffuse Lewy body disease with the A53T mutation in the alpha-synuclein gene

artículo científico publicado en 2005

Abundant tau filaments and nonapoptotic neurodegeneration in transgenic mice expressing human P301S tau protein.

artículo científico publicado en 2002

Age-dependent formation of TMEM106B amyloid filaments in human brains

artículo científico publicado en 2022

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

artículo científico publicado en 2010

Aging-related tau astrogliopathy (ARTAG): harmonized evaluation strategy

artículo científico publicado en 2015

Allelic origin of protease-sensitive and protease-resistant prion protein isoforms in Gerstmann-Sträussler-Scheinker disease with the P102L mutation

artículo científico publicado en 2012

Alois Alzheimer: his life and times

artículo científico publicado en 2007

Altered APP processing in PDAPP (Val717 --> Phe) transgenic mice yields extended-length Abeta peptides

artículo científico publicado en 2005

American Journal of Neurodegenerative Disease: Editorial Board (2012) e-Century Publishing Corporation

artículo científico publicado en 2012

Amino-terminally truncated Abeta peptide species are the main component of cotton wool plaques

artículo científico publicado en 2005

Amyloid and intracellular accumulation of BRI2.

artículo científico publicado en 2016

Amyloid polymorphisms constitute distinct clouds of conformational variants in different etiological subtypes of Alzheimer's disease

artículo científico publicado en 2017

Analysis of tau phosphorylation and truncation in a mouse model of human tauopathy

artículo científico publicado en 2007

Are early atrophy patterns in autosomal dominant familial Alzheimer's disease gene-dependent?

article

Association between conformational mutations in neuroserpin and onset and severity of dementia

artículo científico publicado en 2002

Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype

artículo científico publicado en 2007

Association of ideomotor apraxia with frontal gray matter volume loss in corticobasal syndrome

artículo científico publicado en 2009

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

Awareness of genetic risk in the Dominantly Inherited Alzheimer Network (DIAN)

scientific article published on 01 January 2020

Bank Vole Prion Protein As an Apparently Universal Substrate for RT-QuIC-Based Detection and Discrimination of Prion Strains

artículo científico publicado en 2015

Brain and hippocampal rates of atrophy in familial Alzheimer's disease mutation carriers: Preliminary findings from the DIAN study

Brain homogenates from human tauopathies induce tau inclusions in mouse brain

artículo científico publicado en 2013

C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy

scientific article published on 20 July 2019

Caspase-6 activation in familial alzheimer disease brains carrying amyloid precursor protein or presenilin i or presenilin II mutations

artículo científico publicado en 2009

Cell-cycle markers in a transgenic mouse model of human tauopathy: increased levels of cyclin-dependent kinase inhibitors p21Cip1 and p27Kip1.

artículo científico publicado en 2006

Cerebellar Amyloid-β Plaques: How Frequent Are They, and Do They Influence 18F-Florbetaben SUV Ratios?

artículo científico publicado en 2016

Cerebral amyloid angiopathy and parenchymal amyloid deposition in transgenic mice expressing the Danish mutant form of human BRI2.

artículo científico publicado en 2008

Cerebral amyloidosis associated with cognitive decline in autosomal dominant Alzheimer disease

artículo científico publicado en 2015

Cerebral hypometabolism and grey matter density in MAPT intron 10 +3 mutation carriers

artículo científico publicado en 2014

Characteristics of frontotemporal dementia patients with a Progranulin mutation

artículo científico publicado en 2006

Characterization of the F198S prion protein mutation: enhanced glycosylation and defective refolding.

artículo científico publicado en 2005

Characterization of truncated forms of abnormal prion protein in Creutzfeldt-Jakob disease

artículo científico publicado en 2008

Chitin-like polysaccharides in Alzheimer's disease brains

artículo científico publicado en 2005

Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects

Clinical and biomarker changes in dominantly inherited Alzheimer's disease

artículo científico publicado en 2012

Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: a comparison of the pallidopontonigral degeneration kindred and a French family

artículo científico publicado en 2002

Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498-499InsTC).

artículo científico publicado en 2009

Clinical, pathophysiological and genetic features of motor symptoms in autosomal dominant Alzheimer's disease

artículo científico publicado en 2019

Clinicopathological Correlates in a PRNP P102L Mutation Carrier with Rapidly Progressing Parkinsonism-dystonia

scientific article published on 18 February 2016

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

artículo científico publicado en 2010

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

artículo científico publicado en 2011

Correction to: 4-Repeat tau seeds and templating subtypes as brain and CSF biomarkers of frontotemporal lobar degeneration

artículo científico publicado en 2020

Correction to: Rapid and ultra-sensitive quantitation of disease-associated α-synuclein seeds in brain and cerebrospinal fluid by αSyn RT-QuIC

artículo científico publicado en 2020

Correction: Bank Vole Prion Protein As an Apparently Universal Substrate for RT-QuIC-Based Detection and Discrimination of Prion Strains

artículo científico publicado en 2015

Correction: Quantitative Amyloid Imaging in Autosomal Dominant Alzheimer's Disease: Results from the DIAN Study Group

artículo científico publicado en 2016

Corticobasal syndrome associated with the A9D Progranulin mutation

artículo científico publicado en 2007

Cross-sectional cerebral volumetric differences and associations with estimated time to age-at-onset in familial Alzheimer's disease: Findings from the DIAN study

article

Cryo-EM structures and functional characterization of homo- and heteropolymers of human ferritin variants

scientific article published on 26 November 2020

Cryo-EM structures of amyloid-β 42 filaments from human brains

artículo científico publicado en 2022

Cryo-EM structures of tau filaments from Alzheimer's disease.

artículo científico publicado en 2017

Crystal structure of a conformational antibody that binds tau oligomers and inhibits pathological seeding by extracts from donors with Alzheimer's disease

scientific article published on 03 June 2020

Cytosolic Fc receptor TRIM21 inhibits seeded tau aggregation.

artículo científico publicado en 2017

Decreased body mass index in the preclinical stage of autosomal dominant Alzheimer's disease

artículo científico publicado en 2017

Dementia with Lewy bodies in a Nigerian: a case report

artículo científico publicado en 2002

Detection of filamentous tau inclusions by the fluorescent Congo red derivative FSB [(trans,trans)-1-fluoro-2,5-bis(3-hydroxycarbonyl-4-hydroxy)styrylbenzene].

artículo científico publicado en 2008

Detection of tau in Gerstmann-Sträussler-Scheinker disease (PRNP F198S) by [F]Flortaucipir PET

Developing an international network for Alzheimer research: The Dominantly Inherited Alzheimer Network

artículo científico publicado en 2012

Diffuse Lewy Body Disease and Alzheimer Disease: Neuropathologic Phenotype Associated With the PSEN1 p.A396T Mutation

scientific article published on 01 July 2019

Distinct Conformers of Assembled Tau in Alzheimer's and Pick's Diseases

artículo científico publicado en 2018

Distinct Neurodegenerative Changes in an Induced Pluripotent Stem Cell Model of Frontotemporal Dementia Linked to Mutant TAU Protein

artículo científico publicado en 2015

Dominantly inherited prion protein cerebral amyloidoses - a modern view of Gerstmann-Sträussler-Scheinker

artículo científico publicado en 2018

Dysregulation of TDP-43 intracellular localization and early onset ALS are associated with a TARDBP S375G variant

artículo científico publicado en 2018

Early behavioural changes in familial Alzheimer's disease in the Dominantly Inherited Alzheimer Network

artículo científico publicado en 2015

Early-onset dementia with Lewy bodies

artículo científico publicado en 2004

Effect of Systemic Iron Overload and a Chelation Therapy in a Mouse Model of the Neurodegenerative Disease Hereditary Ferritinopathy

artículo científico publicado en 2016

Effects of different experimental conditions on the PrPSc core generated by protease digestion: implications for strain typing and molecular classification of CJD.

artículo científico publicado en 2004

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study

artículo científico publicado en 2014

Encephalopathy with Neuroserpin Inclusion Bodies Presenting as Progressive Myoclonus Epilepsy and Associated with a Novel Mutation in the Proteinase Inhibitor 12 Gene ⬇️

artículo científico publicado el 24 de marzo de 2011

Enlarging the nosological spectrum of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

artículo científico publicado en 2014

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

artículo científico publicado en 2012

Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study

artículo científico publicado en 2020

Expression of a mutant form of the ferritin light chain gene induces neurodegeneration and iron overload in transgenic mice

artículo científico publicado en 2008

FDG-PET patterns associated with underlying pathology in corticobasal syndrome

scientific article published on 30 January 2019

Failure to detect the presence of prions in the uterine and gestational tissues from a Gravida with Creutzfeldt-Jakob disease.

artículo científico publicado en 2009

Familial prion disease with alzheimer disease‐like tau pathology and clinical phenotype ⬇️

artículo científico publicado el 17 de marzo de 2011

Florbetaben PET imaging to detect amyloid beta plaques in Alzheimer's disease: phase 3 study

artículo científico publicado en 2015

Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)

artículo científico publicado en 2006

Frontotemporal dementia: implications for understanding Alzheimer disease

artículo científico publicado en 2012

Fulminant corticobasal degeneration: Agrypnia excitata in corticobasal syndrome

artículo científico publicado en 2016

Functional connectivity in autosomal dominant and late-onset Alzheimer disease

artículo científico publicado en 2014

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration

artículo científico publicado en 2011

Genetic heterogeneity in Alzheimer disease and implications for treatment strategies

artículo científico publicado en 2014

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

artículo científico publicado en 2019

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

scientific article published on 09 February 2019

Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias

artículo científico publicado en 2014

Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE

artículo científico publicado en 2011

Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy

artículo científico publicado en 2015

Gerstmann-Sträussler-Scheinker disease and "anchorless prion protein" mice share prion conformational properties diverging from sporadic Creutzfeldt-Jakob disease

artículo científico publicado en 2014

Gerstmann-Sträussler-Scheinker disease revisited: accumulation of covalently-linked multimers of internal prion protein fragments.

artículo científico publicado en 2019

Gerstmann-Sträussler-Scheinker disease subtypes efficiently transmit in bank voles as genuine prion diseases

artículo científico publicado en 2016

Gerstmann-Sträussler-Scheinker: a new phenotype with 'curly' PrP deposits

artículo científico publicado en 2006

Globular glial tauopathies (GGT): consensus recommendations

artículo científico publicado en 2013

Haplotype-phenotype correlations in kindreds with the N279K mutation in the tau gene

artículo científico publicado en 2004

Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred

artículo científico publicado en 2006

Hereditary ferritinopathy

artículo científico publicado en 2003

Hereditary prion protein amyloidoses ⬇️

artículo científico publicado el 1 de marzo de 2003

Histopathological and molecular heterogeneity among individuals with dementia associated with Presenilin mutations

artículo científico publicado en 2008

Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network

artículo científico publicado en 2018

Identification of TMEM230 mutations in familial Parkinson's disease

scientific journal article

Impact of Training Method on the Robustness of the Visual Assessment of 18F-Florbetaben PET Scans: Results from a Phase-3 Study

artículo científico publicado en 2016

In vivo and postmortem clinicoanatomical correlations in frontotemporal dementia and parkinsonism linked to chromosome 17.

artículo científico publicado en 2008

Incidence and spectrum of sporadic Creutzfeldt-Jakob disease variants with mixed phenotype and co-occurrence of PrPSc types: an updated classification

artículo científico publicado en 2009

Increase in the relative expression of tau with four microtubule binding repeat regions in frontotemporal lobar degeneration and progressive supranuclear palsy brains

artículo científico publicado en 2007

Increased tau phosphorylation and tau truncation, and decreased synaptophysin levels in mutant BRI2/tau transgenic mice

artículo científico publicado en 2013

Influence of genetic variation on plasma protein levels in older adults using a multi-analyte panel

artículo científico publicado en 2013

Invited review: Frontotemporal dementia caused by microtubule-associated protein tau gene (MAPT) mutations: a chameleon for neuropathology and neuroimaging

artículo científico publicado en 2015

LATE to the PART-y

artículo científico publicado en 2019

Living Neurons with Tau Filaments Aberrantly Expose Phosphatidylserine and Are Phagocytosed by Microglia

artículo científico publicado en 2018

Longitudinal change in CSF biomarkers in autosomal-dominant Alzheimer's disease

artículo científico publicado en 2014

Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation.

artículo científico publicado en 2004

Longitudinal cognitive and biomarker changes in dominantly inherited Alzheimer disease

artículo científico publicado en 2018

Luminescent conjugated oligothiophenes distinguish between α-synuclein assemblies of Parkinson's disease and multiple system atrophy

scientific article published on 03 December 2019

MRI characteristics and scoring in HDLS due to CSF1R gene mutations

artículo científico publicado en 2012

Million-fold sensitivity enhancement in proteopathic seed amplification assays for biospecimens by Hofmeister ion comparisons

artículo científico publicado en 2019

Modeling familial British and Danish dementia

artículo científico publicado en 2009

Molecular subtypes of Alzheimer's disease.

artículo científico publicado en 2018

Mutant presenilin 1 increases the expression and activity of BACE1

artículo científico publicado en 2009

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

artículo científico publicado en 2011

Mutations in the tau gene (MAPT) in FTDP-17: the family with Multiple System Tauopathy with Presenile Dementia (MSTD).

artículo científico publicado en 2006

Neocortical variation of Abeta load in fully expressed, pure Alzheimer's disease.

artículo científico publicado en 2010

Neurodegeneration caused by proteins with an aberrant carboxyl-terminus

artículo científico publicado en 2004

Neurodegeneration-Associated Proteins in Human Olfactory Neurons Collected by Nasal Brushing

artículo científico publicado en 2020

Neurological manifestations of autosomal dominant familial Alzheimer's disease: a comparison of the published literature with the Dominantly Inherited Alzheimer Network observational study (DIAN-OBS).

artículo científico publicado en 2016

Neuropathologic assessment of participants in two multi-center longitudinal observational studies: the Alzheimer Disease Neuroimaging Initiative (ADNI) and the Dominantly Inherited Alzheimer Network (DIAN).

artículo científico publicado en 2015

Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update

artículo científico publicado en 2009

Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations

artículo científico publicado en 2008

Novel late-onset Alzheimer disease loci variants associate with brain gene expression

artículo científico publicado en 2012

Novel strain properties distinguishing sporadic prion diseases sharing prion protein genotype and prion type

artículo científico publicado en 2017

Novel tau filament fold in chronic traumatic encephalopathy encloses hydrophobic molecules

scientific article published on 20 March 2019

Novel tau filament fold in corticobasal degeneration

scientific article published on 12 February 2020

P301L tauopathy: confocal immunofluorescence study of perinuclear aggregation of the mutated protein

artículo científico publicado en 2002

P4-242 Oxidative damage in ferritin-induced neurodegeneration

PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease

artículo científico publicado en 2015

PET of brain prion protein amyloid in Gerstmann-Sträussler-Scheinker disease.

artículo científico publicado en 2009

Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations

artículo científico publicado en 2013

Pathologic prion protein is specifically recognized in situ by a novel PrP conformational antibody.

artículo científico publicado en 2006

Pathological changes in dopaminergic nerve cells of the substantia nigra and olfactory bulb in mice transgenic for truncated human alpha-synuclein(1-120): implications for Lewy body disorders.

artículo científico publicado en 2006

Pathological phosphorylation of tau and TDP-43 by TTBK1 and TTBK2 drives neurodegeneration

artículo científico publicado en 2018

Performance on MMSE sub-items and education level in presenilin-1 mutation carriers without dementia

artículo científico publicado en 2007

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.

artículo científico publicado en 2007

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

artículo científico publicado en 2018

Preferential degradation of cognitive networks differentiates Alzheimer's disease from ageing.

artículo científico publicado en 2018

Presence of Reactive Microglia and Neuroinflammatory Mediators in a Case of Frontotemporal Dementia with P301S Mutation ⬇️

artículo científico publicado el 5 de enero de 2011

Presenilin-1 280Glu-->Ala mutation alters C-terminal APP processing yielding longer abeta peptides: implications for Alzheimer's disease

artículo científico publicado en 2008

Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production

artículo científico publicado en 2002

Presymptomatic atrophy in autosomal dominant Alzheimer's disease: A serial MRI study.

artículo científico publicado en 2017

Protective variant for hippocampal atrophy identified by whole exome sequencing

artículo científico publicado en 2015

Quantitative Amyloid Imaging in Autosomal Dominant Alzheimer's Disease: Results from the DIAN Study Group

artículo científico publicado en 2016

Rapid and ultra-sensitive quantitation of disease-associated α-synuclein seeds in brain and cerebrospinal fluid by αSyn RT-QuIC.

artículo científico publicado en 2018

Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings

artículo científico publicado en 2014

Rapidly progressive atypical parkinsonism associated with frontotemporal lobar degeneration and motor neuron disease

artículo científico publicado en 2010

Rapidly progressive primary progressive aphasia and parkinsonism with novel GRN mutation.

artículo científico publicado en 2016

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

artículo científico publicado en 2017

Rarity of the Alzheimer disease-protective APP A673T variant in the United States

artículo científico publicado en 2015

Redox metals and oxidative abnormalities in human prion diseases

artículo científico publicado en 2005

Regional variability of imaging biomarkers in autosomal dominant Alzheimer's disease

artículo científico publicado en 2013

Relationship between physical activity, cognition, and Alzheimer pathology in autosomal dominant Alzheimer's disease

artículo científico publicado en 2018

Relationships between big-five personality factors and Alzheimer's disease pathology in autosomal dominant Alzheimer's disease

scientific article published on 23 June 2020

SNARE protein redistribution and synaptic failure in a transgenic mouse model of Parkinson's disease

artículo científico publicado en 2010

Screening for C9ORF72 repeat expansion in FTLD.

artículo científico publicado en 2012

Seeding selectivity and ultrasensitive detection of tau aggregate conformers of Alzheimer disease

scientific article published on 20 December 2018

Seizures as an early symptom of autosomal dominant Alzheimer's disease

artículo científico publicado en 2018

Sequence of Alzheimer disease biomarker changes in cognitively normal adults: A cross-sectional study

artículo científico publicado en 2020

Serum neurofilament dynamics predicts neurodegeneration and clinical progression in presymptomatic Alzheimer’s disease

artículo científico publicado en 2019

Serum neurofilament light chain levels are associated with white matter integrity in autosomal dominant Alzheimer's disease

scientific article published on 06 June 2020

Silver staining (Campbell-Switzer) of neuronal α-synuclein assemblies induced by multiple system atrophy and Parkinson's disease brain extracts in transgenic mice

scientific article published on 16 September 2019

Single-subject grey matter network trajectories over the disease course of autosomal dominant Alzheimer's disease

scientific article published on 15 July 2020

Soluble amyloid beta-protein is increased in frontotemporal dementia with tau gene mutations.

artículo científico publicado en 2004

Structure-based classification of tauopathies

artículo científico publicado en 2021

Structure-based inhibitors halt prion-like seeding by Alzheimer's disease-and tauopathy-derived brain tissue samples

artículo científico publicado en 2019

Structures of filaments from Pick's disease reveal a novel tau protein fold

scientific article published in Nature

Structures of α-synuclein filaments from human brains with Lewy pathology

artículo científico publicado en 2022

Structures of α-synuclein filaments from multiple system atrophy

artículo científico publicado en 2020

Subjects harboring presenilin familial Alzheimer's disease mutations exhibit diverse white matter biochemistry alterations

scientific article published on 18 September 2013

Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis

artículo científico publicado en 2014

Systemic and cerebral iron homeostasis in ferritin knock-out mice

artículo científico publicado en 2015

TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea.

artículo científico publicado en 2009

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

artículo científico publicado en 2014

Tau filaments from multiple cases of sporadic and inherited Alzheimer's disease adopt a common fold

artículo científico publicado en 2018

The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families

artículo científico publicado en 2006

The CNS in inbred transgenic models of 4-repeat Tauopathy develops consistent tau seeding capacity yet focal and diverse patterns of protein deposition

artículo científico publicado en 2017

The Effect of tau genotype on clinical features in FTDP-17

article

The Psen1-L166P-knock-in mutation leads to amyloid deposition in human wild-type amyloid precursor protein YAC transgenic mice.

artículo científico publicado en 2012

The epsilon isoform of 14-3-3 protein is a component of the prion protein amyloid deposits of Gerstmann-Sträussler-Scheinker disease.

artículo científico publicado en 2007

The genetics of very early onset Alzheimer disease

artículo científico publicado en 2007

The human amyloid-beta precursor protein770 mutation V717F generates peptides longer than amyloid-beta-(40-42) and flocculent amyloid aggregates.

artículo científico publicado en 2003

The novel Tau mutation G335S: clinical, neuropathological and molecular characterization.

artículo científico publicado en 2006

The pattern of atrophy in familial Alzheimer disease: volumetric MRI results from the DIAN study

artículo científico publicado en 2013

The phosphatase calcineurin regulates pathological TDP-43 phosphorylation.

artículo científico publicado en 2016

The tau tubulin kinases TTBK1/2 promote accumulation of pathological TDP-43

artículo científico publicado en 2014

The tauopathy associated with mutation +3 in intron 10 of Tau: characterization of the MSTD family

artículo científico publicado en 2007

Ubiquitination of alpha-synuclein in Lewy bodies is a pathological event not associated with impairment of proteasome function

artículo científico publicado en 2003

Ultrasensitive and selective detection of 3-repeat tau seeding activity in Pick disease brain and cerebrospinal fluid

artículo científico publicado en 2017

Variable phenotype in a P102L Gerstmann-Sträussler-Scheinker Italian family

artículo científico publicado en 2003

Visuoperception test predicts pathologic diagnosis of Alzheimer disease in corticobasal syndrome

artículo científico publicado en 2014

White matter hyperintensities and the mediating role of cerebral amyloid angiopathy in dominantly-inherited Alzheimer's disease.

artículo científico publicado en 2018

White matter hyperintensities are a core feature of Alzheimer's disease: Evidence from the dominantly inherited Alzheimer network

artículo científico publicado en 2016

White matter tauopathy with globular glial inclusions: a distinct sporadic frontotemporal lobar degeneration

artículo científico publicado en 2008

[(11)C]PiB PET in Gerstmann-Sträussler-Scheinker disease

artículo científico publicado en 2016

gene variation and microglial activity on [C]PBR28 PET in older adults at risk for Alzheimer's disease

article

α-Synuclein RT-QuIC assay in cerebrospinal fluid of patients with dementia with Lewy bodies

scientific article published on 10 October 2019

α-Synuclein filaments from transgenic mouse and human synucleinopathy-containing brains are major seed-competent species

artículo científico publicado en 2020

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