(Q38866202)

7 September 2017

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title

Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies (English)

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7 September 2017

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frontotemporal dementia

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2

Manuela Neumann

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7 September 2017

Ian R A Mackenzie

1

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7 September 2017

language of work or name

English

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publication date

15 June 2016

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Journal of Neurochemistry

7 September 2017

number of pages

17

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based on heuristic

inferred from page(s)

published in

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7 September 2017

volume

138 Suppl 1

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7 September 2017

page(s)

54-70

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Globular glial tauopathies (GGT): consensus recommendations

7 September 2017

cites work

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TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease

21 January 2018

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TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

21 January 2018

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Phosphorylated TDP-43 in Alzheimer's disease and dementia with Lewy bodies.

21 January 2018

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Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

21 January 2018

1 reference

Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene

21 January 2018

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Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

21 January 2018

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TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

21 January 2018

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Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion

21 January 2018

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Progressive supranuclear palsy with dementia: cortical pathology.

21 January 2018

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Inclusions in frontotemporal lobar degeneration with TDP-43 proteinopathy (FTLD-TDP) and amyotrophic lateral sclerosis (ALS), but not FTLD with FUS proteinopathy (FTLD-FUS), have properties of amyloid.

21 January 2018

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C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

21 January 2018

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Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease.

21 January 2018

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TARDBP mutations in frontotemporal lobar degeneration: frequency, clinical features, and disease course.

21 January 2018

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Neuropathological stageing of Alzheimer-related changes

21 January 2018

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Frequency of stages of Alzheimer-related lesions in different age categories

21 January 2018

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Alzheimer's pathogenesis: is there neuron-to-neuron propagation?

21 January 2018

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Stages of the pathologic process in Alzheimer disease: age categories from 1 to 100 years

21 January 2018

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Amyotrophic lateral sclerosis--a model of corticofugal axonal spread

21 January 2018

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Transportin1: a marker of FTLD-FUS

21 January 2018

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Stages of pTDP-43 pathology in amyotrophic lateral sclerosis

21 January 2018

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Sequential distribution of pTDP-43 pathology in behavioral variant frontotemporal dementia (bvFTD).

21 January 2018

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The multiple roles of TDP-43 in pre-mRNA processing and gene expression regulation

21 January 2018

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Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease

21 January 2018

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alpha-internexin is present in the pathological inclusions of neuronal intermediate filament inclusion disease

21 January 2018

1 reference

Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration

21 January 2018

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TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions

21 January 2018

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Propagation of tau pathology in a model of early Alzheimer's disease

21 January 2018

1 reference

Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits

21 January 2018

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Invited review: Prion-like transmission and spreading of tau pathology

21 January 2018

1 reference

A yeast functional screen predicts new candidate ALS disease genes

21 January 2018

1 reference

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

21 January 2018

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Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

21 January 2018

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Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9orf72 is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins.

21 January 2018

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Cellular effects of progranulin in health and disease

21 January 2018

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Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

21 January 2018

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Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

21 January 2018

1 reference

Office of Rare Diseases neuropathologic criteria for corticobasal degeneration.

21 January 2018

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ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import

21 January 2018

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Arginine methylation next to the PY-NLS modulates Transportin binding and nuclear import of FUS.

21 January 2018

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An amyloid-like cascade hypothesis for C9orf72 ALS/FTD

21 January 2018

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UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration

21 January 2018

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Spread of pathology in amyotrophic lateral sclerosis: assessment of phosphorylated TDP-43 along axonal pathways

21 January 2018

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Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations.

21 January 2018

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Frontotemporal dementia: clinicopathological correlations

21 January 2018

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Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

21 January 2018

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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.

21 January 2018

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Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

21 January 2018

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Mechanisms of toxicity in C9FTLD/ALS.

21 January 2018

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Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

21 January 2018

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Clinical and pathological continuum of multisystem TDP-43 proteinopathies

21 January 2018

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A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

21 January 2018

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Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort

21 January 2018

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Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration.

21 January 2018

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Cell-to-cell transmission of pathogenic proteins in neurodegenerative diseases

21 January 2018

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Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

21 January 2018

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Molecular dissection of TDP-43 proteinopathies

21 January 2018

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TAR DNA-binding protein 43 immunohistochemistry reveals extensive neuritic pathology in FTLD-U: a midwest-southwest consortium for FTLD study

21 January 2018

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Absence of FUS-immunoreactive pathology in frontotemporal dementia linked to chromosome 3 (FTD-3) caused by mutation in the CHMP2B gene

21 January 2018

1 reference

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p

21 January 2018

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FUS and TDP43 genetic variability in FTD and CBS

21 January 2018

1 reference

Deep clinical and neuropathological phenotyping of Pick disease

21 January 2018

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Frontotemporal dementia caused by CHMP2B mutations

21 January 2018

1 reference

Argyrophilic grain disease presenting with frontotemporal dementia: a neuropsychological and pathological study of an autopsied case with presenile onset

21 January 2018

1 reference

Clinical and pathological evidence for a frontal variant of Alzheimer disease

21 January 2018

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Evaluation of subcortical pathology and clinical correlations in FTLD-U subtypes

21 January 2018

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Staging TDP-43 pathology in Alzheimer's disease

21 January 2018

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TDP-43 is a key player in the clinical features associated with Alzheimer's disease

21 January 2018

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TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

21 January 2018

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Diffusion tensor imaging analysis of sequential spreading of disease in amyotrophic lateral sclerosis confirms patterns of TDP-43 pathology

21 January 2018

1 reference

The evolution and pathology of frontotemporal dementia

21 January 2018

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VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

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Clinicopathological description of two cases with SQSTM1 gene mutation associated with frontotemporal dementia

21 January 2018

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Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

21 January 2018

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Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

1 reference

Neurodegenerative tauopathies

21 January 2018

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Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic

21 January 2018

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Propagation of tau pathology: hypotheses, discoveries, and yet unresolved questions from experimental and human brain studies

21 January 2018

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Trans-synaptic spread of tau pathology in vivo

21 January 2018

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The overlap of amyotrophic lateral sclerosis and frontotemporal dementia

21 January 2018

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The neuropathology and clinical phenotype of FTD with progranulin mutations

21 January 2018

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Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype

21 January 2018

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Atypical frontotemporal lobar degeneration with ubiquitin-positive, TDP-43-negative neuronal inclusions

21 January 2018

1 reference

Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations

21 January 2018

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

21 January 2018

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Distinct pathological subtypes of FTLD-FUS.

21 January 2018

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A harmonized classification system for FTLD-TDP pathology

21 January 2018

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Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations

21 January 2018

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Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers

21 January 2018

1 reference

From nucleation to widespread propagation: A prion-like concept for ALS.

21 January 2018

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Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.

21 January 2018

1 reference

Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease

21 January 2018

1 reference

Alzheimer and frontotemporal pathology in subsets of primary progressive aphasia.

21 January 2018

1 reference

C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function?

21 January 2018

1 reference

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

21 January 2018

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Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

21 January 2018

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The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

21 January 2018

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FUS pathology in basophilic inclusion body disease

21 January 2018

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Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

21 January 2018

1 reference

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

21 January 2018

1 reference

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

21 January 2018

1 reference

TDP-43-positive white matter pathology in frontotemporal lobar degeneration with ubiquitin-positive inclusions

21 January 2018

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Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies

21 January 2018

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A new subtype of frontotemporal lobar degeneration with FUS pathology

21 January 2018

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Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease

21 January 2018

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FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations

21 January 2018

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Transportin 1 accumulates specifically with FET proteins but no other transportin cargos in FTLD-FUS and is absent in FUS inclusions in ALS with FUS mutations

21 January 2018

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C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD

21 January 2018

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Extrapyramidal symptoms in Frontotemporal Dementia: prevalence and clinical correlations

21 January 2018

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Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.

21 January 2018

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Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype

21 January 2018

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Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice

21 January 2018

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Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43.

21 January 2018

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Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

21 January 2018

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Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability

21 January 2018

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

21 January 2018

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Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS.

21 January 2018

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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

21 January 2018

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TDP-43 skeins show properties of amyloid in a subset of ALS cases

21 January 2018

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No interaction between tau and TDP-43 pathologies in either frontotemporal lobar degeneration or motor neurone disease

21 January 2018

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Functions of FUS/TLS from DNA repair to stress response: implications for ALS.

21 January 2018

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Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies

21 January 2018

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Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing

21 January 2018

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Identification of neuronal RNA targets of TDP-43-containing ribonucleoprotein complexes

21 January 2018

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Are frontotemporal lobar degeneration, progressive supranuclear palsy and corticobasal degeneration distinct diseases?

21 January 2018

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Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

21 January 2018

1 reference

Review: Prion-like mechanisms of transactive response DNA binding protein of 43 kDa (TDP-43) in amyotrophic lateral sclerosis (ALS).

21 January 2018

1 reference

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p

21 January 2018

1 reference

Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease

21 January 2018

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The TET family of proteins: functions and roles in disease

21 January 2018

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Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis.

21 January 2018

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Characterizing the RNA targets and position-dependent splicing regulation by TDP-43.

21 January 2018

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Argyrophilic grain disease.

21 January 2018

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Molecular analysis and biochemical classification of TDP-43 proteinopathy

21 January 2018

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Incidence and extent of TDP-43 accumulation in aging human brain

21 January 2018

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FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

21 January 2018

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Concomitant TAR-DNA-binding protein 43 pathology is present in Alzheimer disease and corticobasal degeneration but not in other tauopathies

21 January 2018

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TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

21 January 2018

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Genetic contribution of FUS to frontotemporal lobar degeneration

21 January 2018

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Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort

21 January 2018

1 reference

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

21 January 2018

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Neurodegenerative diseases: expanding the prion concept

21 January 2018

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Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity?

21 January 2018

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TDP-43 pathology, cognitive decline, and dementia in old age

21 January 2018

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PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology

21 January 2018

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Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia

21 January 2018

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Phosphorylated TDP-43 pathology and hippocampal sclerosis in progressive supranuclear palsy

21 January 2018

1 reference

Sporadic Pick's disease: a tauopathy characterized by a spectrum of pathological tau isoforms in gray and white matter

21 January 2018

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Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

21 January 2018

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RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/JNC.13588

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7 September 2017

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