Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72 (Q35752001)

10 August 2017

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

1 reference

amyotrophic lateral sclerosis

10 August 2017

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12

1 reference

Mariely DeJesus-Hernandez

10 August 2017

2

object named as

Mariely DeJesus-Hernandez

0 references

Melissa E. Murray

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Melissa E Murray

1

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Zbigniew K Wszolek

7

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Zbigniew K Wszolek

1 reference

10 August 2017

11

Rosa Rademakers

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10 August 2017

Nicola J Rutherford

3

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10 August 2017

Matt Baker

4

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10 August 2017

Ranjan Duara

5

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10 August 2017

Neill R Graff-Radford

6

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10 August 2017

Tanis J Ferman

8

1 reference

10 August 2017

Keith A Josephs

9

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10 August 2017

Kevin B Boylan

10

1 reference

10 August 2017

15 November 2011

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10 August 2017

Acta Neuropathologica

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10 August 2017

122

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10 August 2017

6

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10 August 2017

673-690

1 reference

https://scigraph.springernature.com/pub.10.1007/s00401-011-0907-y

10 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

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

2 October 2017

1 reference

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Neuropathologically defined subtypes of Alzheimer's disease with distinct clinical characteristics: a retrospective study

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

Clinical aspects of familial forms of frontotemporal dementia associated with parkinsonism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

A harmonized classification system for FTLD-TDP pathology

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

Hippocampal sclerosis in the elderly: genetic and pathologic findings, some mimicking Alzheimer disease clinically

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

Motor neuron disease clinically limited to the lower motor neuron is a diffuse TDP-43 proteinopathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

Clinicopathological characteristics of FTLD-TDP showing corticospinal tract degeneration but lacking lower motor neuron loss

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

Caudate atrophy on MRI is a characteristic feature of FTLD-FUS

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

Amyotrophic lateral sclerosis and frontotemporal lobar degeneration: a spectrum of TDP-43 proteinopathies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

TARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

Validation of the neuropathologic criteria of the third consortium for dementia with Lewy bodies for prospectively diagnosed cases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

Prominent phenotypic variability associated with mutations in Progranulin

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

The neuropathology and clinical phenotype of FTD with progranulin mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

Filamentous tau in oligodendrocytes and astrocytes of transgenic mice expressing the human tau isoform with the P301L mutation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

Neuropathological stageing of Alzheimer-related changes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

Identification of normal and pathological aging in prospectively studied nondemented elderly humans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

Transactivation response DNA-binding protein 43 microvasculopathy in frontotemporal degeneration and familial Lewy body disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

Ubiquitin immunoreactive structures in normal human brains. Distribution and developmental aspects

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

Staging disease severity in pathologically confirmed cases of frontotemporal dementia.

12 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0907-Y

Evidence of multisystem disorder in whole-brain map of pathological TDP-43 in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0907-Y

Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0907-Y

21 January 2018

Frontotemporal dementia.

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0907-Y

Abnormal phosphorylation of Ser409/410 of TDP-43 in FTLD-U and ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0907-Y

Hippocampal sclerosis in tau-negative frontotemporal lobar degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0907-Y

No evidence for cognitive dysfunction or depression in patients with mild restless legs syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0907-Y

Frontotemporal lobar degeneration with motor neuron disease-type inclusions predominates in 76 cases of frontotemporal degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0907-Y

The overlap of amyotrophic lateral sclerosis and frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0907-Y

The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0907-Y

Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0907-Y

Neuronal intranuclear inclusions distinguish familial FTD-MND type from sporadic cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0907-Y

Continuum of frontal lobe impairment in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0907-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0907-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0907-Y

TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1 gene mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0907-Y

Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0907-Y

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0907-Y

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

Incidence of cerebrovascular lesions in Alzheimer's disease: a postmortem study.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277860

TDP-43 in differential diagnosis of motor neuron disorders

25 September 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0907-Y

Progranulin gene mutation with an unusual clinical and neuropathologic presentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0907-Y

Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0907-Y

A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0907-Y

Diagnosis of Alzheimer's disease

21 January 2018

1 reference

12 December 2020

TDP-43-immunoreactive neuronal and glial inclusions in the neostriatum in amyotrophic lateral sclerosis with and without dementia

1 reference

12 December 2020

Severe subcortical TDP-43 pathology in sporadic frontotemporal lobar degeneration with motor neuron disease

1 reference

12 December 2020

Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions visualized with ubiquitin-binding protein p62 immunohistochemistry

1 reference

12 December 2020

10.1007/S00401-011-0907-Y

Identifiers

DOI

1 reference

10 August 2017

1 reference

10 August 2017

1 reference