(Q50718599)

18 March 2018

title

Clinicopathological description of two cases with SQSTM1 gene mutation associated with frontotemporal dementia. (English)

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18 March 2018

main subject

dementia

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frontotemporal dementia

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1

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18 March 2018

Christine Van Broeckhoven

8

object named as

Christine Van Broeckhoven

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18 March 2018

2

Julie van der Zee

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18 March 2018

Jakub Hort

object named as

Jakub Hort

3

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author name string

Wolfgang Kristoferitsch

4

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18 March 2018

Thomas Leitha

5

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18 March 2018

Romana Höftberger

6

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18 March 2018

Thomas Ströbel

7

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18 March 2018

Radoslav Matej

9

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18 March 2018

publication date

3 August 2015

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18 March 2018

published in

Neuropathology

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18 March 2018

volume

36

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18 March 2018

issue

1

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18 March 2018

page(s)

27-38

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18 March 2018

The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum

cites work

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

TARDBP mutation p.Ile383Val associated with semantic dementia and complex proteinopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

Protein coding of neurodegenerative dementias: the neuropathological basis of biomarker diagnostics

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

The neuropathology associated with repeat expansions in the C9ORF72 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

Sporadic ALS with compound heterozygous mutations in the SQSTM1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

novoSNP, a novel computational tool for sequence variation discovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

An antibody with high reactivity for disease-associated α-synuclein reveals extensive brain pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

Intracellular processing of disease-associated α-synuclein in the human brain suggests prion-like cell-to-cell spread.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

Oxidative damage in multiple sclerosis lesions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

Two types of sporadic cerebral amyloid angiopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

Phases of A beta-deposition in the human brain and its relevance for the development of AD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

Staging of Alzheimer disease-associated neurofibrillary pathology using paraffin sections and immunocytochemistry

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

National Institute on Aging-Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease: a practical approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

A harmonized classification system for FTLD-TDP pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

Stages of pTDP-43 pathology in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

Proposed neuropathological criteria for the post mortem diagnosis of multiple system atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

Globular glial tauopathies (GGT): consensus recommendations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

Glial cytoplasmic inclusions in the CNS of patients with multiple system atrophy (striatonigral degeneration, olivopontocerebellar atrophy and Shy-Drager syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

Accumulation of p62 in degenerated spinal cord under chronic mechanical compression: functional analysis of p62 and autophagy in hypoxic neuronal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12233

21 January 2018

Identifiers

DOI

10.1111/NEUP.12233

1 reference

18 March 2018

PubMed ID

26234378

1 reference

18 March 2018