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A 52-Year-Old Man with Myoclonic Jerks

artículo científico publicado en 2016

A 7-kDa prion protein (PrP) fragment, an integral component of the PrP region required for infectivity, is the major amyloid protein in Gerstmann-Sträussler-Scheinker disease A117V.

artículo científico publicado en 2000

A betaPP peptide carboxyl-terminal to Abeta is neurotoxic

artículo científico publicado en 1999

A case of multiple sclerosis with pure, massive superficial demyelination.

artículo científico publicado en 2012

A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene

artículo científico publicado en 2004

A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia

artículo científico publicado en 2015

A modified Camel and Cactus Test detects presymptomatic semantic impairment in genetic frontotemporal dementia within the GENFI cohort

artículo científico publicado en 2020

A neurotoxic and gliotrophic fragment of the prion protein increases plasma membrane microviscosity.

artículo científico publicado en 1997

A neurotoxic prion protein fragment induces rat astroglial proliferation and hypertrophy.

artículo científico publicado en 1994

A new function of microtubule-associated protein tau: involvement in chromosome stability

artículo científico publicado en 2008

A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype.

artículo científico publicado en 2009

A novel PSEN2 mutation associated with a peculiar phenotype

artículo científico publicado en 2008

A novel insertional mutation in the prion protein gene: clinical and bio-molecular findings

artículo científico publicado en 2008

A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features.

artículo científico publicado en 2011

A novel phenotype of sporadic Creutzfeldt-Jakob disease.

artículo científico publicado en 2007

A novel progranulin mutation causing frontotemporal lobar degeneration with heterogeneous phenotypic expression.

artículo científico publicado en 2011

A68 is a component of paired helical filaments of Gerstmann-Sträussler-Scheinker disease, Indiana kindred

artículo científico publicado en 1993

APE1/Ref-1 in Alzheimer's disease: an immunohistochemical study

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

Alzheimer neuropathology without frontotemporal lobar degeneration hallmarks (TAR DNA-binding protein 43 inclusions) in missense progranulin mutation Cys139Arg

artículo científico publicado en 2016

Alzheimer patients and Down patients: abnormal presynaptic terminals are related to cerebral preamyloid deposits

artículo científico publicado en 1990

Alzheimer patients and Down patients: cerebral preamyloid deposits differ ultrastructurally and histochemically from the amyloid of senile plaques

artículo científico publicado en 1989

Alzheimer patients: preamyloid deposits are immunoreactive with antibodies to extracellular domains of the amyloid precursor protein

artículo científico publicado en 1991

Alzheimer patients: preamyloid deposits are more widely distributed than senile plaques throughout the central nervous system

artículo científico publicado en 1989

Amyloid fibrils in Gerstmann-Sträussler-Scheinker disease (Indiana and Swedish kindreds) express only PrP peptides encoded by the mutant allele

An In Vivo (11)C-(R)-PK11195 PET and In Vitro Pathology Study of Microglia Activation in Creutzfeldt-Jakob Disease.

artículo científico publicado en 2017

An atypical case of sporadic fatal insomnia

artículo científico publicado en 2009

An atypical presentation of diffuse midline pontine glioma in a middle age patient: Case report

artículo científico publicado en 2019

Anti-amyloid β autoantibodies in cerebral amyloid angiopathy-related inflammation: implications for amyloid-modifying therapies

artículo científico publicado en 2013

Assessment of beta-amyloid deposits in human brain: a study of the BrainNet Europe Consortium

artículo científico publicado en 2009

Assessment of α-Synuclein Pathology: A Study of the BrainNet Europe Consortium

scientific article published on 01 February 2008

Atypical tauopathy in a patient with LRRK2-G2019S mutation and tremor-dominant Parkinsonism

artículo científico publicado en 2012

Atypical tauopathy with massive involvement of the white matter

artículo científico publicado en 2008

Beta PP participates in PrP-amyloid plaques of Gerstmann-Sträussler-Scheinker disease, Indiana kindred.

artículo científico publicado en 1993

Brain delivery of AAV9 expressing an anti-PrP monovalent antibody delays prion disease in mice.

artículo científico publicado en 2012

Brain protein preservation largely depends on the postmortem storage temperature: implications for study of proteins in human neurologic diseases and management of brain banks: a BrainNet Europe Study

artículo científico publicado en 2007

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

artículo científico publicado en 2013

Cell-free amplification of prions: Where do we stand?

scientific article published on 09 September 2020

Cerebral amyloid angiopathy in a 51-year-old patient with embolization by dura mater extract and surgery for nasopharyngeal angiofibroma at age 17

artículo científico publicado en 2020

Cerebral preamyloid deposits and congophilic angiopathy in aged dogs

artículo científico publicado en 1990

Cerebrospinal fluid levels of amyloid beta-protein precursor are low in Gerstmann-Sträussler-Scheinker disease, Indiana kindred

scientific article published on 01 August 1994

Changes in brain oxysterols at different stages of Alzheimer's disease: Their involvement in neuroinflammation

artículo científico publicado en 2016

Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene

article

Cognitive deficits in familial Alzheimer's disease associated with M239V mutation of presenilin 2.

artículo científico publicado en 2006

Consensus classification of human prion disease histotypes allows reliable identification of molecular subtypes: an inter-rater study among surveillance centres in Europe and USA

artículo científico publicado en 2012

Conversion of the BASE prion strain into the BSE strain: the origin of BSE?

artículo científico publicado en 2007

Creutzfeldt-Jakob disease with a novel extra-repeat insertional mutation in the PRNP gene.

artículo científico publicado en 2003

Creutzfeldt-Jakob disease with a novel four extra-repeat insertional mutation in the PrP gene

artículo científico publicado en 2000

Current concepts in Alzheimer's disease: a multidisciplinary review

artículo científico publicado en 2009

Defective tumor necrosis factor-alpha-dependent control of astrocyte glutamate release in a transgenic mouse model of Alzheimer disease

artículo científico publicado en 2005

Development of layer I of the human cerebral cortex after midgestation: architectonic findings, immunocytochemical identification of neurons and glia, and in situ labeling of apoptotic cells

artículo científico publicado en 1999

Differential overexpression of SERPINA3 in human prion diseases

artículo científico publicado en 2017

Diffuse thalamic degeneration in fatal familial insomnia. A morphometric study

artículo científico publicado en 1997

Discovering the Italian phenotype of cerebral amyloid angiopathy (CAA): the SENECA project

artículo científico publicado en 2020

Divergent cognitive status with the same Braak stage of neurofibrillary pathology: does the pattern of amyloid-β deposits make the difference?

artículo científico publicado en 2015

Down patients: extracellular preamyloid deposits precede neuritic degeneration and senile plaques

artículo científico publicado en 1989

Doxycycline in Creutzfeldt-Jakob disease: a phase 2, randomised, double-blind, placebo-controlled trial.

artículo científico publicado en 2014

Dreaming of a New World Where Alzheimer's Is a Treatable Disorder

scientific article published on 15 November 2019

Early cortical and late striatal diffusion restriction on 3T MRI in a long-lived sporadic creutzfeldt-jakob disease case

scientific article published on 25 March 2019

Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures

artículo científico publicado en 2001

Effectiveness of anthracycline against experimental prion disease in Syrian hamsters

artículo científico publicado en 1997

Effects of Multiple Genetic Loci on Age at Onset in Frontotemporal Dementia.

artículo científico publicado en 2017

Effects of formalin fixation, paraffin embedding, and time of storage on DNA preservation in brain tissue: a BrainNet Europe study

artículo científico publicado en 2007

Effects of peptidyl-prolyl isomerase 1 depletion in animal models of prion diseases.

artículo científico publicado en 2018

Efficient RT-QuIC seeding activity for α-synuclein in olfactory mucosa samples of patients with Parkinson's disease and multiple system atrophy

artículo científico publicado en 2019

Erratum to: Neuropathological assessments of the pathology in frontotemporal lobar degeneration with TDP43-positive inclusions: an inter-laboratory study by the BrainNet Europe consortium

scientific article published on 01 July 2015

FVEPs in Creutzfeldt–Jacob disease: waveforms and interaction with the periodic EEG pattern assessed by single sweep analysis

artículo científico publicado en 2005

Familial Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles

artículo científico publicado en 1994

Familial frontotemporal dementia associated with the novel MAPT mutation T427M.

artículo científico publicado en 2005

Fatal familial insomnia: genetic, neuropathologic, and biochemical study of a patient from a new Italian kindred

artículo científico publicado en 1998

Frontotemporal Dementia and Chorea Associated with a Compound Heterozygous TREM2 Mutation

artículo científico publicado en 2018

Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.

artículo científico publicado en 1999

Frontotemporal dementia and its subtypes: a genome-wide association study

artículo científico publicado en 2014

Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

artículo científico publicado en 2019

Gerstmann-Sträussler-Scheinker disease (PRNP P102L): amyloid deposits are best recognized by antibodies directed to epitopes in PrP region 90-165

scientific article published on 01 November 1995

Gerstmann-Sträussler-Scheinker disease and the Indiana kindred

artículo científico publicado en 1995

Gerstmann-Sträussler-Scheinker disease. II. Neurofibrillary tangles and plaques with PrP-amyloid coexist in an affected family

artículo científico publicado en 1989

Glial fibrillary acidic protein and vimentin in the experimental glial reaction of the rat brain

artículo científico publicado en 1986

Globular glial tauopathies (GGT): consensus recommendations

artículo científico publicado en 2013

Good gene, bad gene: new APP variant may be both

artículo científico

Hemoglobin mRNA Changes in the Frontal Cortex of Patients with Neurodegenerative Diseases

artículo científico publicado en 2018

Hereditary and sporadic beta-amyloidoses ⬇️

artículo científico publicado el 1 de junio de 2013

Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP.

artículo científico publicado en 2010

High diagnostic value of second generation CSF RT-QuIC across the wide spectrum of CJD prions.

artículo científico publicado en 2017

Iatrogenic Creutzfeldt-Jakob disease with Amyloid-β pathology: an international study

artículo científico publicado en 2018

Iatrogenic early onset cerebral amyloid angiopathy 30 years after cerebral trauma with neurosurgery: vascular amyloid deposits are made up of both Aβ40 and Aβ42

artículo científico publicado en 2019

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

article

Idiopathic progressive chorea: misnomer or still reality? A case with neuropathological disconfirmation

artículo científico publicado en 2014

Immunohistochemical demonstration of vimentin in human cerebral tumors

artículo científico publicado en 1986

In Situ Tissue Labeling of Cerebral Amyloid Using HIV-Related Tat Peptide

artículo científico publicado en 2018

Inter-laboratory comparison of neuropathological assessments of β-amyloid protein: a study of the BrainNet Europe consortium

artículo científico publicado en 2008

Interlaboratory comparison of assessments of Alzheimer disease-related lesions: a study of the BrainNet Europe Consortium

artículo científico publicado en 2006

Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers.

artículo científico publicado en 2009

Late presentation of leucoencephalopathy with calcifications and cysts: report of two cases

artículo científico publicado en 2008

Lewy body pathology and typical Parkinson disease in a patient with a heterozygous (R275W) mutation in the Parkin gene (PARK2)

artículo científico publicado en 2012

MM2-thalamic Creutzfeldt-Jakob disease: neuropathological, biochemical and transmission studies identify a distinctive prion strain.

artículo científico publicado en 2012

Management of a twenty-first century brain bank: experience in the BrainNet Europe consortium.

artículo científico publicado en 2008

Measles Inclusion-Body Encephalitis: Neuronal Phosphorylated Tau Protein is Present in the Biopsy but not in the Autoptic Specimens of the Same Patient

artículo científico publicado en 2015

Measles Inclusion-Body Encephalitis: Neuronal Phosphorylated Tau Protein is Present in the Biopsy but not in the Autoptic Specimens of the Same Patient.

artículo científico publicado en 2016

Mirror Image of the Amyloid-β Species in Cerebrospinal Fluid and Cerebral Amyloid in Alzheimer's Disease

artículo científico publicado en 2015

Missense mutation in GRN gene affecting RNA splicing and plasma progranulin level in a family affected by frontotemporal lobar degeneration.

artículo científico publicado en 2017

Molecular subtypes of Alzheimer's disease.

artículo científico publicado en 2018

Multisite Assessment of Aging-Related Tau Astrogliopathy (ARTAG).

artículo científico publicado en 2017

Myoclonus in Creutzfeldt-Jakob disease: Polygraphic and video-electroencephalography assessment of 109 patients

artículo científico publicado en 2010

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

artículo científico publicado en 2010

Neuro-Behçet's disease presenting as an isolated progressive cognitive and behavioral syndrome

artículo científico publicado en 2018

Neurofibrillary tangles of the Indiana kindred of Gerstmann-Sträussler-Scheinker disease share antigenic determinants with those of Alzheimer disease

artículo científico publicado en 1990

Neuropathological Alzheimer's Disease Lesions in Nasu-Hakola Disease with TREM2 Mutation: Atypical Distribution of Neurofibrillary Changes

artículo científico publicado en 2020

Neuropathological and clinical phenotype of an Italian Alzheimer family with M239V mutation of presenilin 2 gene.

artículo científico publicado en 2004

Neuropathological assessments of the pathology in frontotemporal lobar degeneration with TDP43-positive inclusions: an inter-laboratory study by the BrainNet Europe consortium

artículo científico publicado en 2014

Neuropathology of the hippocampus in FTLD-Tau with Pick bodies: a study of the BrainNet Europe Consortium.

artículo científico

Neuropathology of the recessive A673V APP mutation: Alzheimer disease with distinctive features.

artículo científico publicado en 2010

New lexicon and criteria for the diagnosis of Alzheimer's disease

artículo científico publicado en 2011

New mutations in MAPT gene causing frontotemporal lobar degeneration: biochemical and structural characterization.

artículo científico publicado en 2011

One novel GRN null mutation, two different aphasia phenotypes

scientific article published on 12 November 2019

PMCA Applications for Prion Detection in Peripheral Tissues of Patients with Variant Creutzfeldt-Jakob Disease

artículo científico publicado en 2020

Panencephalopathic Creutzfeldt-Jakob disease with distinct pattern of prion protein deposition in a patient with D178N mutation and homozygosity for valine at codon 129 of the prion protein Gene.

artículo científico publicado en 2013

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

artículo científico publicado en 2006

Periodic electroencephalogram complexes in a patient with variant Creutzfeldt-Jakob disease

artículo científico publicado en 2006

Phospho-HDAC6 Gathers Into Protein Aggregates in Parkinson's Disease and Atypical Parkinsonisms

scientific article published on 23 June 2020

Preamyloid Deposits, Amyloid Deposits, and Senile Plaques in Alzheimer's Disease, Down Syndrome, and Aging ⬇️

artículo científico publicado el 1 de enero de 1991

Preamyloid deposits in the cerebral cortex of patients with Alzheimer's disease and nondemented individuals

artículo científico publicado en 1988

Prion Efficiently Replicates in α-Synuclein Knockout Mice

scientific article published on 30 April 2019

Prion deposition in olfactory biopsy of sporadic Creutzfeldt-Jakob disease

artículo científico publicado en 2004

Prion protein amyloidosis

artículo científico publicado en 1996

Prion protein preamyloid and amyloid deposits in Gerstmann-Sträussler-Scheinker disease, Indiana kindred

artículo científico publicado en 1992

Prodromal Alzheimer's disease presenting as cerebral amyloid angiopathy-related inflammation with spontaneous amyloid-related imaging abnormalities and high cerebrospinal fluid anti-Aβ autoantibodies.

artículo científico publicado en 2015

Progressive supranuclear palsy with hypertrophy of the olives. An immunocytochemical study of the cytoskeleton of argyrophilic neurons

artículo científico publicado en 1988

Relationship between non-fibrillary amyloid precursors and cell processes in the cortical neuropil of Alzheimer patients

artículo científico publicado en 1991

Role of plasminogen in propagation of scrapie

artículo científico publicado en 2005

Singular cases of Alzheimer's disease disclose new and old genetic "acquaintances"

scientific article published on 02 October 2020

Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients.

artículo científico publicado en 2007

Sporadic Creutzfeldt-Jakob disease: co-occurrence of different types of PrP(Sc) in the same brain

artículo científico publicado en 1999

Sporadic Creutzfeldt-Jakob disease: the extent of microglia activation is dependent on the biochemical type of PrPSc

artículo científico publicado en 2005

Sporadic Fatal Insomnia in Europe: Phenotypic features and diagnostic challenges

scientific article published on 31 August 2018

Staging of neurofibrillary pathology in Alzheimer's disease: a study of the BrainNet Europe Consortium

artículo científico publicado en 2008

Staging/typing of Lewy body related alpha-synuclein pathology: a study of the BrainNet Europe Consortium.

artículo científico publicado en 2009

Synthetic Prion Selection and Adaptation

artículo científico publicado en 2018

Synthetic peptides homologous to prion protein residues 106-147 form amyloid-like fibrils in vitro

artículo científico publicado en 1993

Tackling amyloidogenesis in Alzheimer's disease with A2V variants of Amyloid-β.

artículo científico publicado en 2016

Tau Mutations Serve as a Novel Risk Factor for Cancer

artículo científico publicado en 2018

Tau Mutations as a Novel Risk Factor for Cancer-Response

artículo científico publicado en 2018

Tau protein directly interacts with the amyloid beta-protein precursor: implications for Alzheimer's disease

artículo científico publicado en 1995

Tauopathy in human and experimental variant Creutzfeldt-Jakob disease

artículo científico publicado en 2007

Tetracyclines affect prion infectivity

artículo científico publicado en 2002

The Existence of Primary Age-Related Tauopathy Suggests that not all the Cases with Early Braak Stages of Neurofibrillary Pathology are Alzheimer's Disease

artículo científico publicado en 2015

The Rise of the GRN C157KfsX97 Mutation in Southern Italy: Going Back to the Fall of the Western Roman Empire

artículo científico publicado en 2020

The behavioural features of fatal familial insomnia: A new Italian case with pathological verification

artículo científico publicado en 2008

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 need to unify neuropathological assessments of vascular alterations in the ageing brain: multicentre survey by the BrainNet Europe consortium

artículo científico publicado en 2012

Towards an early clinical diagnosis of sporadic CJD VV2 (ataxic type).

artículo científico publicado en 2017

Translational Research in Alzheimer's and Prion Diseases

artículo científico publicado en 2017

Ubiquitinated neurites are associated with preamyloid and cerebral amyloid beta deposits in patients with hereditary cerebral hemorrhage with amyloidosis Dutch type

artículo científico publicado en 1993

Understanding the Pathophysiology of Cerebral Amyloid Angiopathy ⬇️

artículo científico publicado en 2020

Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease

artículo científico publicado en 2016

Up-regulation of β-amyloidogenesis in neuron-like human cells by both 24- and 27-hydroxycholesterol: protective effect of N-acetyl-cysteine

artículo científico publicado en 2014

Use of different RT-QuIC substrates for detecting CWD prions in the brain of Norwegian cervids

scientific article published on 09 December 2019

Variability of the clinical phenotype in an Italian family with dementia associated with an intronic deletion in the GRN gene.

artículo científico publicado en 2011

Variably protease-sensitive prionopathy: a new sporadic disease of the prion protein.

artículo científico publicado en 2010

Vascular variant of prion protein cerebral amyloidosis with tau-positive neurofibrillary tangles: the phenotype of the stop codon 145 mutation in PRNP.

artículo científico publicado en 1996

White matter hyperintensities in progranulin-associated frontotemporal dementia: A longitudinal GENFI study

scientific article published on 06 November 2019

Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation

artículo científico publicado en 2010

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