Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers (Q40535548)

21 September 2017

Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers (English)

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21 September 2017

5

Leonard Petrucelli

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21 September 2017

7

Dieter Edbauer

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21 September 2017

11

Manuela Neumann

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21 September 2017

6

Neil R Cashman

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21 September 2017

3

Friedrich A Grässer

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21 September 2017

Ian R A Mackenzie

1

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21 September 2017

Petra Frick

2

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21 September 2017

Tania F Gendron

4

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21 September 2017

Elisabeth Kremmer

8

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21 September 2017

Johannes Prudlo

9

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21 September 2017

Dirk Troost

10

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21 September 2017

language of work or name

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15 September 2015

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21 September 2017

Acta Neuropathologica

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21 September 2017

130

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21 September 2017

845-861

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21 September 2017

6

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https://scigraph.springernature.com/pub.10.1007/s00401-015-1476-2

21 September 2017

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cites work

Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

1 reference

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

21 January 2018

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

21 January 2018

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Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1476-2

Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1476-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1476-2

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

21 January 2018

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Mechanisms of toxicity in C9FTLD/ALS.

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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Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration.

21 January 2018

1 reference

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

21 January 2018

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Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells

21 January 2018

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Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

21 January 2018

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

21 January 2018

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C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.

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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TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

21 January 2018

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

21 January 2018

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The neuropathology associated with repeat expansions in the C9ORF72 gene

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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Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.

21 January 2018

1 reference

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C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration

21 January 2018

1 reference

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C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci.

21 January 2018

1 reference

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C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

21 January 2018

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C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function?

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

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

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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Frontotemporal lobar degeneration and amyotrophic lateral sclerosis: molecular similarities and differences

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1476-2

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1476-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1476-2

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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Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD/ALS.

21 January 2018

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Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity

21 January 2018

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Amyloid deposits: protection against toxic protein species?

21 January 2018

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An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

21 January 2018

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Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death

21 January 2018

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RAN translation and frameshifting as translational challenges at simple repeats of human neurodegenerative disorders

21 January 2018

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Rapid detection of protein aggregates in the brains of Alzheimer patients and transgenic mouse models of amyloidosis

21 January 2018

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Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress

21 January 2018

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RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

21 January 2018

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10.1007/S00401-015-1476-2

21 January 2018

Identifiers

DOI

1 reference

21 September 2017

1 reference