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A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease.

artículo científico publicado en 2015

A Clinicopathologic Study of Movement Disorders in Frontotemporal Lobar Degeneration

scientific article published on 06 November 2020

A case of TDP-43 type C pathology presenting as nonfluent variant primary progressive aphasia

scientific article published on 21 November 2019

A comparative clinical, pathological, biochemical and genetic study of fused in sarcoma proteinopathies

artículo científico publicado en 2011

A comprehensive screening of copy number variability in dementia with Lewy bodies

scientific article published on 24 October 2018

A distinct brain beta amyloid signature in cerebral amyloid angiopathy compared to Alzheimer's disease

scientific article published on 23 February 2019

A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders.

artículo científico publicado en 2019

A novel prion disease associated with diarrhea and autonomic neuropathy

artículo científico publicado en 2013

A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia

artículo científico publicado en 2014

APOE ε4 is also required in TREM2 R47H variant carriers for Alzheimer's disease to develop.

artículo científico publicado en 2018

Abundant pyroglutamate-modified ABri and ADan peptides in extracellular and vascular amyloid deposits in familial British and Danish dementias

artículo científico publicado en 2012

Alterations in global DNA methylation and hydroxymethylation are not detected in Alzheimer's disease.

artículo científico publicado en 2015

Alzheimer's disease phospholipase C-gamma-2 (PLCG2) protective variant is a functional hypermorph

artículo científico publicado en 2019

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

artículo científico publicado en 2017

An immunohistochemical study of cases of sporadic and inherited frontotemporal lobar degeneration using 3R- and 4R-specific tau monoclonal antibodies

artículo científico publicado en 2006

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

artículo científico publicado en 2016

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

scientific article published on 29 January 2020

ApoE4 lowers age at onset in patients with frontotemporal dementia and tauopathy independent of amyloid-β copathology

artículo científico publicado en 2019

Apomorphine: A potential modifier of amyloid deposition in Parkinson's disease?

artículo científico publicado en 2015

Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration

artículo científico publicado en 2017

Brain amyloid-beta fragment signatures in pathological ageing and Alzheimer's disease by hybrid immunoprecipitation mass spectrometry

artículo científico publicado en 2015

C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study.

artículo científico publicado en 2013

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis

artículo científico publicado en 2015

C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci.

scientific article published on 30 October 2013

CSF amyloid is a consistent predictor of white matter hyperintensities across the disease course from aging to Alzheimer's disease

artículo científico publicado en 2020

Cerebral amyloid angiopathies: a pathologic, biochemical, and genetic view

artículo científico publicado en 2003

Cerebrospinal fluid tau fragment correlates with tau PET: a candidate biomarker for tangle pathology

artículo científico publicado en 2020

Characterization of tau positron emission tomography tracer [18F]AV-1451 binding to postmortem tissue in Alzheimer's disease, primary tauopathies, and other dementias

artículo científico publicado en 2016

Chromosome 13 dementia syndromes as models of neurodegeneration

artículo científico publicado el 1 de diciembre de 2001

Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration

artículo científico publicado en 2011

Clinical and pathological features of an Alzheimer's disease patient with the MAPT Delta K280 mutation

artículo científico publicado en 2007

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series

artículo científico publicado en 2016

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

artículo científico publicado en 2010

Complement activation in chromosome 13 dementias. Similarities with Alzheimer's disease

artículo científico publicado en 2002

Correction to: Expanding the genetic heterogeneity of intellectual disability.

artículo científico publicado en 2017

Correction to: Relevance of biomarkers across different neurodegenerative diseases

artículo científico publicado en 2020

Cortical alpha-synuclein load is associated with amyloid-beta plaque burden in a subset of Parkinson's disease patients

scientific article published on 08 January 2008

Corticospinal tract degeneration and temporal lobe atrophy in frontotemporal lobar degeneration TDP-43 type C pathology

scientific article published on 10 October 2019

DJ-1 (PARK7) is associated with 3R and 4R tau neuronal and glial inclusions in neurodegenerative disorders

artículo científico publicado en 2007

Degeneration in different parkinsonian syndromes relates to astrocyte type and astrocyte protein expression

artículo científico publicado en 2009

Detecting tau isoforms in archival cases

scientific article published on 02 December 2003

Epigenomics and transcriptomics analyses of multiple system atrophy brain tissue supports a role for inflammatory processes in disease pathogenesis

scientific article published on 14 May 2020

Erratum: Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11

scholarly article published in Nature Genetics

Evaluating the relationship between amyloid-β and α-synuclein phosphorylated at Ser129 in dementia with Lewy bodies and Parkinson's disease

artículo científico publicado en 2014

Exome sequencing reveals a novel partial deletion in the progranulin gene causing primary progressive aphasia

artículo científico publicado en 2013

Expanding the genetic heterogeneity of intellectual disability

artículo científico publicado en 2017

Extensive Anti-CoA Immunostaining in Alzheimer's Disease and Covalent Modification of Tau by a Key Cellular Metabolite Coenzyme A

artículo científico publicado en 2021

FTLD-TDP assemblies seed neoaggregates with subtype-specific features via a prion-like cascade

artículo científico publicado en 2021

Failure in heat-shock protein expression in response to UBB+1 protein in progressive supranuclear palsy in humans

artículo científico publicado en 2004

Familial Alzheimer's disease patient-derived neurons reveal distinct mutation-specific effects on amyloid beta

scientific article published on 12 April 2019

Familial Danish dementia: a novel form of cerebral amyloidosis associated with deposition of both amyloid-Dan and amyloid-beta

artículo científico publicado en 2002

Familial Danish dementia: co-existence of Danish and Alzheimer amyloid subunits (ADan AND A{beta}) in the absence of compact plaques

artículo científico publicado en 2005

Familial cerebral amyloid angiopathy related to stroke and dementia

artículo científico publicado el 1 de julio de 2001

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

artículo científico publicado en 2012

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.

artículo científico publicado en 2014

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene

artículo científico publicado en 2013

Genetic determinants of white matter hyperintensities and amyloid angiopathy in familial Alzheimer's disease.

artículo científico publicado en 2015

Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies

artículo científico publicado en 2009

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

artículo científico publicado en 2021

Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

artículo científico publicado en 2015

Globular glial tauopathies (GGT) presenting with motor neuron disease or frontotemporal dementia: an emerging group of 4-repeat tauopathies

artículo científico publicado en 2011

Heritability and genetic variance of dementia with Lewy bodies

scientific article published on 03 April 2019

Heterogeneous Nuclear Ribonucleoproteins: Implications in Neurological Diseases

artículo científico publicado en 2020

Heterogeneous nuclear ribonucleoproteins R and Q accumulate in pathological inclusions in FTLD-FUS

artículo científico publicado en 2019

Heterogeneous ribonuclear protein A3 (hnRNP A3) is present in dipeptide repeat protein containing inclusions in Frontotemporal Lobar Degeneration and Motor Neurone disease associated with expansions in C9orf72 gene

artículo científico publicado en 2017

Heterogeneous ribonuclear protein E2 (hnRNP E2) is associated with TDP-43-immunoreactive neurites in Semantic Dementia but not with other TDP-43 pathological subtypes of Frontotemporal Lobar Degeneration

artículo científico publicado en 2017

Histological evidence of chronic traumatic encephalopathy in a large series of neurodegenerative diseases

artículo científico publicado en 2015

HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing

artículo científico publicado en 2021

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

artículo científico publicado en 2013

Hypertonic Stress Causes Cytoplasmic Translocation of Neuronal, but Not Astrocytic, FUS due to Impaired Transportin Function

artículo científico publicado en 2018

Immunohistochemical and Molecular Investigations Show Alteration in the Inflammatory Profile of Multiple System Atrophy Brain.

artículo científico publicado en 2018

In vivo staging of frontotemporal lobar degeneration TDP-43 type C pathology

scientific article published on 27 March 2020

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

artículo científico publicado en 2017

Investigation of pathology, expression and proteomic profiles in human TREM2 variant post-mortem brains with and without Alzheimer's disease

artículo científico publicado en 2020

Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing

artículo científico publicado en 2019

LATE to the PART-y

artículo científico publicado en 2019

LRRK2 and parkin immunoreactivity in multiple system atrophy inclusions

artículo científico publicado en 2008

Large inter- and intra-case variability of first generation tau PET ligand binding in neurodegenerative dementias.

artículo científico publicado en 2018

Large-scale visualisation of α-synuclein oligomers in Parkinson's disease brain tissue

Lewy- and Alzheimer-type pathologies in Parkinson's disease dementia: which is more important?

artículo científico publicado en 2011

MOBP and HIP1 in multiple system atrophy: new α-synuclein partners in glial cytoplasmic inclusions implicated in the disease pathogenesis

artículo científico publicado en 2020

Mass Spectrometric Analysis of Lewy Body-Enriched α-Synuclein in Parkinson's Disease

scientific article published on 15 April 2019

Medin aggregation causes cerebrovascular dysfunction in aging wild-type mice

artículo científico publicado en 2020

Microglial burden, activation and dystrophy patterns in frontotemporal lobar degeneration

artículo científico publicado en 2020

Molecular biomarkers of Alzheimer's disease: progress and prospects.

artículo científico publicado en 2018

Molecular forms of neurogranin in cerebrospinal fluid

artículo científico publicado en 2020

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

artículo científico publicado en 2007

Neuronal and Peripheral Pentraxins Modify Glutamate Release and may Interact in Blood-Brain Barrier Failure.

artículo científico publicado en 2017

Neuronal intranuclear inclusion disease is genetically heterogeneous

scientific article published on 10 August 2020

Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions

artículo científico publicado en 2014

Novel clinicopathological characteristics differentiate dementia with Lewy bodies from Parkinson's disease dementia

artículo científico publicado en 2020

Novel tau fragments in cerebrospinal fluid: relation to tangle pathology and cognitive decline in Alzheimer's disease.

artículo científico publicado en 2018

PYROGLUTAMATE FORMATION AT THE N-TERMINI OF ABRI MOLECULES IN FAMILIAL BRITISH DEMENTIA IS NOT RESTRICTED TO THE CENTRAL NERVOUS SYSTEM

artículo científico publicado el 8 de julio de 2010

Pathological correlates of white matter hyperintensities in a case of progranulin mutation associated frontotemporal dementia

artículo científico publicado en 2018

Preferential association of serum amyloid P component with fibrillar deposits in familial British and Danish dementias: similarities with Alzheimer's disease

artículo científico publicado en 2007

Pyroglutamation of amyloid-βx-42 (Aβx-42) followed by Aβ1-40 deposition underlies plaque polymorphism in progressing Alzheimer's disease pathology

artículo científico publicado en 2019

Qualitative changes in human γ-secretase underlie familial Alzheimer's disease

artículo científico publicado en 2015

RANTing about C9orf72

scientific article published on 01 February 2013

Relevance of biomarkers across different neurodegenerative

scientific article published on 13 May 2020

Review: Clinical, neuropathological and genetic features of Lewy body dementias

scientific article published on 20 May 2019

Review: an update on clinical, genetic and pathological aspects of frontotemporal lobar degenerations.

artículo científico

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

artículo científico publicado en 2014

Soluble and insoluble dipeptide repeat protein measurements in C9orf72-frontotemporal dementia brains show regional differential solubility and correlation of poly-GR with clinical severity

artículo científico publicado en 2020

Somatic copy number gains of α-synuclein (SNCA) in Parkinson's disease and multiple system atrophy brains

artículo científico publicado en 2018

Spontaneous ARIA (amyloid-related imaging abnormalities) and cerebral amyloid angiopathy related inflammation in presenilin 1-associated familial Alzheimer's disease

artículo científico publicado en 2015

Sporadic and familial cerebral amyloid angiopathies.

artículo científico publicado en 2002

Sporadic four-repeat tauopathy with frontotemporal degeneration, parkinsonism and motor neuron disease

scholarly article by Yue-Shan Piao et al published December 2005 in Acta Neuropathologica

Structural and functional conservation of non-lumenized lymphatic endothelial cells in the mammalian leptomeninges

scientific article published on 06 November 2019

Structure-based classification of tauopathies

artículo científico publicado en 2021

Symmetric dimethylation of poly-GR correlates with disease duration in C9orf72 FTLD and ALS and reduces poly-GR phase separation and toxicity

scientific article published on 12 December 2019

TDP-43 extracted from frontotemporal lobar degeneration subject brains displays distinct aggregate assemblies and neurotoxic effects reflecting disease progression rates

scientific article published on 17 December 2018

TDP-43 in ubiquitinated inclusions in the inferior olives in frontotemporal lobar degeneration and in other neurodegenerative diseases: a degenerative process distinct from normal ageing

artículo científico publicado en 2009

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

artículo científico publicado en 2022

TDP-43 pathology may occur in the BRI2 gene-related dementias

artículo científico publicado en 2011

TREM2 Variants in Alzheimer's Disease

artículo científico publicado el 14 de noviembre de 2012

Temporal Variant Frontotemporal Dementia is Associated with Globular Glial Tauopathy.

artículo científico publicado en 2015

The age-dependent associations of white matter hyperintensities and neurofilament light in early- and late-stage Alzheimer's disease

scientific article published on 19 September 2020

The clinical and neuroanatomical phenotype of FUS associated frontotemporal lobar degeneration

artículo científico publicado en 2010

The clinical, neuroanatomical, and neuropathologic phenotype of TBK1-associated frontotemporal dementia: A longitudinal case report

artículo científico publicado en 2016

The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease

artículo científico publicado en 2004

The intact postsynaptic protein neurogranin is reduced in brain tissue from patients with familial and sporadic Alzheimer's disease

scientific article published on 22 September 2018

The localization of amyloid precursor protein to ependymal cilia in vertebrates and its role in ciliogenesis and brain development in zebrafish

artículo científico publicado en 2021

The novel MAPT mutation K298E: mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons

artículo científico publicado en 2013

The presence of heterogeneous nuclear ribonucleoproteins in frontotemporal lobar degeneration with FUS-positive inclusions

artículo científico publicado en 2016

The presubiculum is preserved from neurodegenerative changes in Alzheimer's disease

artículo científico publicado en 2018

The role of hnRNPs in frontotemporal dementia and amyotrophic lateral sclerosis

artículo científico publicado en 2020

The significance of α-synuclein, amyloid-β and tau pathologies in Parkinson's disease progression and related dementia

artículo científico publicado en 2013

Transportin1: a marker of FTLD-FUS

artículo científico publicado en 2011

Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia

artículo científico publicado en 2020

Two pathologically confirmed cases of novel mutations in the MAPT gene causing frontotemporal dementia

artículo científico publicado en 2019

Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations

scientific article published on 01 November 2000

White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy

artículo científico publicado en 2019

Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy

artículo científico publicado en 2013