(Q46986726)

27 December 2017

title

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

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27 December 2017

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8

Christian Haass

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Kohji Mori

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Kohji Mori

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Dieter Edbauer

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object named as

Dieter Edbauer

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27 December 2017

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Manuela Neumann

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27 December 2017

2

Thomas Arzberger

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27 December 2017

author name string

Ian R Mackenzie

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27 December 2017

Elisabeth Kremmer

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27 December 2017

Dirk Troost

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27 December 2017

Stefan Lorenzl

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27 December 2017

Shih-Ming Weng

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27 December 2017

Hans A Kretzschmar

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27 December 2017

publication date

6 October 2013

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27 December 2017

published in

Acta Neuropathologica

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27 December 2017

volume

126

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27 December 2017

issue

6

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27 December 2017

page(s)

859-879

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27 December 2017

https://scigraph.springernature.com/pub.10.1007/s00401-013-1181-y

exact match

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cites work

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Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

21 January 2018

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Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

21 January 2018

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Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion

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Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study

21 January 2018

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

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Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

21 January 2018

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

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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Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation

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

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A century-old debate on protein aggregation and neurodegeneration enters the clinic

21 January 2018

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

21 January 2018

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A harmonized classification system for FTLD-TDP pathology

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

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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Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.

21 January 2018

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

21 January 2018

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Correlation of Alzheimer disease neuropathologic changes with cognitive status: a review of the literature

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

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Toxic RNA as a driver of disease in a common form of ALS and dementia

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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The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

21 January 2018

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Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

21 January 2018

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

21 January 2018

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CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome

21 January 2018

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Amyloid deposits: protection against toxic protein species?

21 January 2018

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

21 January 2018

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Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort.

21 January 2018

1 reference

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Non-ATG-initiated translation directed by microsatellite expansions

21 January 2018

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p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1181-Y

10.1007/S00401-013-1181-Y

21 January 2018

Identifiers

DOI

1 reference

27 December 2017

PubMed ID

24096617

1 reference

27 December 2017