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The new FTD mutation on chromosome 9

  1. Editorial

    The C9ORF72 mutation brings more answers and more questions

    The clinical, neuropsychiatric and neuroimaging features of patients who carry the important new C9ORF72 mutation are discussed in this special series of Alzheimer's Research & Therapy. First reported in November...

    Bruce L Miller

    Alzheimer's Research & Therapy 2013 5:7

    Published on: 18 February 2013

  2. Review

    Treatment implications of C9ORF72

    Frontotemporal dementia (FTD) is a common dementia syndrome in patients under the age of 65 years with many features overlapping with amyotrophic lateral sclerosis (ALS). The link between FTD and ALS has been ...

    Sharon J Sha and Adam Boxer

    Alzheimer's Research & Therapy 2012 4:46

    Published on: 27 November 2012

  3. Review

    Neuroimaging features of C9ORF72 expansion

    Hexanucleotide expansion intronic to chromosome 9 open reading frame 72 (C9ORF72) has recently been identified as the most common genetic cause of both familial and sporadic amyotrophic lateral sclerosis and of f...

    Jennifer S Yokoyama and Howard J Rosen

    Alzheimer's Research & Therapy 2012 4:45

    Published on: 16 November 2012

  4. Commentary

    C9orf72 immunohistochemistry in Alzheimer's disease

    Mutation in chromosome 9 open reading frame 72 (C9orf72) is a major genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), referred to as C9FTD/ALS. The function of the protein is...

    Tibor Hortobágyi

    Alzheimer's Research & Therapy 2012 4:37

    Published on: 26 September 2012

  5. Research

    Longitudinal neuroimaging and neuropsychological profiles of frontotemporal dementia with C9ORF72 expansions

    Frontotemporal dementia (FTD) is a common cause of early-onset dementia with a significant genetic component, as underlined by the recent identification of repeat expansions in the gene C9ORF72 as a major cause o...

    Colin J Mahoney, Laura E Downey, Gerard R Ridgway, Jon Beck, Shona Clegg, Melanie Blair, Sarah Finnegan, Kelvin K Leung, Tom Yeatman, Hannah Golden, Simon Mead, Jonathan D Rohrer, Nick C Fox and Jason D Warren

    Alzheimer's Research & Therapy 2012 4:41

    Published on: 24 September 2012

  6. Research

    Dystrophic neurites express C9orf72 in Alzheimer's disease brains

    Chromosome 9 open reading frame 72 (C9orf72) is an evolutionarily conserved protein with unknown function, expressed at high levels in the brain. An expanded hexanucleotide GGGGCC repeat located in the first i...

    Jun-ichi Satoh, Hiroko Tabunoki, Tsuyoshi Ishida, Yuko Saito and Kunimasa Arima

    Alzheimer's Research & Therapy 2012 4:33

    Published on: 16 August 2012

  7. Review

    Cognitive and behavioral features of c9FTD/ALS

    Numerous kindreds with familial frontotemporal dementia or amyotrophic lateral sclerosis or both have been linked to chromosome 9 (c9FTD/ALS), and an expansion of the GGGGCC hexanucleotide repeat in the non-co...

    Bradley F Boeve and Neill R Graff-Radford

    Alzheimer's Research & Therapy 2012 4:29

    Published on: 20 July 2012