C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies (Q24603611)

Davina J Hensman Moss

1

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Edward Wild

Edward J Wild

11

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Sarah J. Tabrizi

Sarah J Tabrizi

15

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Mary G. Sweeney

12

Mary G Sweeney

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author name string

Mark Poulter

2

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Jon Beck

3

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Jason Hehir

4

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James M Polke

5

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Tracy Campbell

6

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Garry Adamson

7

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Ese Mudanohwo

8

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Peter McColgan

9

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Andrea Haworth

10

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Simon Mead

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

14

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language of work or name

English

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publication date

28 January 2014

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published in

Neurology

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volume

82

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issue

4

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page(s)

292-9

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cites work

1 reference

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C9orf72 repeat expansions are a rare genetic cause of parkinsonism

7 April 2017

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The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

7 April 2017

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Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease

7 April 2017

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Behavioral variant frontotemporal lobar degeneration with amyotrophic lateral sclerosis with a chromosome 9p21 hexanucleotide repeat

7 April 2017

1 reference

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

7 April 2017

1 reference

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

7 April 2017

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

7 April 2017

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

7 April 2017

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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

7 April 2017

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Comparison of family histories in FTLD subtypes and related tauopathies

27 September 2017

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Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

7 April 2017

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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.

27 September 2017

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The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures

27 September 2017

1 reference

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

27 September 2017

1 reference

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Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome

27 September 2017

1 reference

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Screening for C9orf72 repeat expansions in parkinsonian syndromes

27 September 2017

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C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism

27 September 2017

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Large C9orf72 repeat expansions are not a common cause of Parkinson's disease

27 September 2017

1 reference

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

27 September 2017

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Recent advances in the genetics of the ALS-FTLD complex

27 September 2017

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

27 September 2017

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Huntington's disease out of the closet?

27 September 2017

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Huntington's disease: genetic heterogeneity in black African patients.

27 September 2017

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A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series

27 September 2017

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Huntington's disease phenocopy syndromes

27 September 2017

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The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test

27 September 2017

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Huntington disease phenocopy is a familial prion disease

27 September 2017

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Huntington disease without CAG expansion: phenocopies or errors in assignment?

27 September 2017

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C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

27 September 2017

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No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden

30 May 2018

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Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis: an Australian trio study

28 November 2018

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Huntington's disease phenocopies are clinically and genetically heterogeneous

28 November 2018

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Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains

28 November 2018

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28 November 2018

RANTing about C9orf72

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PubMed

https://pubmed.ncbi.nlm.nih.gov/24363131