Feb 3, 2012 · These findings suggest that mutations in C9orf72 could be the most commonly identified cause of familial ALS and frontotemporal dementia (FTD).
Mutation in C9orf72 changes the boundaries of ALS and FTD. Lancet Neurol. 2012 Mar;11(3):205-7. doi: 10.1016/S1474-4422(12)70020-0. Epub 2012 Feb 3.
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Mar 11, 2012 · Mutation in C9orf72 changes the boundaries of ALS and FTD. In this issue of The Lancet Neurology, Susan Byrne and colleagues1 report clinical ...
Oct 17, 2023 · A mutation in the C9ORF72 gene is one of the most common causes of both frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS).
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This article reviews what is currently known about the C9ORF72 expansion and how C9ORF72 expansion manifests in ALS, FTD, psychiatric disorders, and movement ...
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Sep 15, 2016 · C9orf72 harbors a hexanucleotide repeat, GGGGCC, in a non-coding region of the gene and a massive expansion of this repeat causes ALS, FTD, or ...
Jun 13, 2012 · A massive hexanucleotide repeat expansion mutation (HREM) in C9ORF72 has recently been linked to amyotrophic lateral sclerosis (ALS) and frontotemporal ...
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Jul 19, 2012 · The recent C9ORF72 gene discovery has created momentum towards greater understanding of FTD and ALS, allowing refinement of the phenotypes ...
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The overall mutation frequency of C9ORF72 is 20% for familial FTD, 16% for familial ALS and around 6%–8% for sporadic ALS and FTD (Marogianni et al., 2019).
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May 18, 2017 · A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72, 257–268, doi:10.1016/j.neuron.2011.09.
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