Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability (Q47548592)

3 February 2018

title

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

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3 February 2018

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frontotemporal dementia

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3

Dieter Edbauer

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3 February 2018

Malcolm Proudfoot

1

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3 February 2018

Nick J Gutowski

2

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3 February 2018

David A Hilton

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3 February 2018

Mark Stephens

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3 February 2018

Julia Rankin

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3 February 2018

Ian R A Mackenzie

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3 February 2018

publication date

21 January 2014

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3 February 2018

published in

Acta Neuropathologica

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3 February 2018

volume

127

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3 February 2018

issue

3

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3 February 2018

page(s)

451-458

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3 February 2018

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

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CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

21 January 2018

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21 January 2018

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

21 January 2018

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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

21 January 2018

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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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hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations

21 January 2018

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21 January 2018

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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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ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations

21 January 2018

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21 January 2018

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Increased frequency of learning disability in patients with primary progressive aphasia and their first-degree relatives

21 January 2018

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Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review

21 January 2018

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21 January 2018

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The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

21 January 2018

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21 January 2018

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

21 January 2018

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TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration

21 January 2018

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21 January 2018

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21 January 2018

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TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration

21 January 2018

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21 January 2018

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Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration

21 January 2018

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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

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

21 January 2018

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10.1007/S00401-014-1245-7

21 January 2018

Identifiers

DOI

1 reference

3 February 2018

1 reference

3 February 2018