Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features (Q24630410)

Jonathan D Rohrer

3

0 references

Jason D. Warren

Jason D Warren

16

0 references

Nick C. Fox

Nick C Fox

10

0 references

Martin Rossor

Martin N Rossor

11

0 references

John Anthony Hardy

12

John Hardy

0 references

Tammaryn Lashley

4

Tammaryn Lashley

0 references

Colin J Mahoney

1

Colin J Mahoney

0 references

Jonathan M Schott

9

Jonathan M Schott

0 references

Tom Yeatman

7

Tom Yeatman

0 references

Jon R Beck

2

Jon Beck

0 references

Tim J Shakespeare

6

Tim Shakespeare

0 references

John Collinge

13

John Collinge

0 references

Simon Mead

15

Simon Mead

0 references

author name string

Elizabeth K Warrington

8

0 references

Tamas Revesz

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

14

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language of work or name

English

0 references

publication date

March 2012

0 references

published in

Brain

0 references

volume

135

0 references

issue

Pt 3

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page(s)

736-50

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cites work

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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

21 January 2018

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21 January 2018

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Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

1 reference

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21 January 2018

1 reference

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21 January 2018

1 reference

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

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

1 reference

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The cerebellar cognitive profile.

28 November 2018

1 reference

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

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22366791

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Ubiquitinated, p62 immunopositive cerebellar cortical neuronal inclusions are evident across the spectrum of TDP-43 proteinopathies but are only rarely additionally immunopositive for phosphorylation-dependent TDP-43

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22366791

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22366791

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BRAIN/AWR361

1 reference

2008073

2008073

1 reference

1 reference

1 reference