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Heterogeneous ribonuclear protein A3 (hnRNP A3) is present in dipeptide repeat protein containing inclusions in Frontotemporal Lobar Degeneration and Motor Neurone disease associated with expansions in C9orf72 gene.
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C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease.
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Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion.
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Distinct Phospho-TDP-43 brain distribution in two cases of FTD, one associated with ALS.
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From autophagy to mitophagy: the roles of P62 in neurodegenerative diseases.
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Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.
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The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.
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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.
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本文引用的文献
1
C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease.
JAMA Neurol. 2013 Jun;70(6):736-41. doi: 10.1001/2013.jamaneurol.537.
2
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.
Am J Hum Genet. 2013 Mar 7;92(3):345-53. doi: 10.1016/j.ajhg.2013.01.011. Epub 2013 Feb 21.
3
C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment.
Neurobiol Aging. 2013 Jun;34(6):1712.e1-7. doi: 10.1016/j.neurobiolaging.2012.12.019. Epub 2013 Jan 24.
4
Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians.
Neurobiol Aging. 2013 May;34(5):1519.e5-12. doi: 10.1016/j.neurobiolaging.2012.10.003. Epub 2012 Oct 27.
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Investigation of c9orf72 in 4 neurodegenerative disorders.
Arch Neurol. 2012 Dec;69(12):1583-90. doi: 10.1001/archneurol.2012.2016.
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Frontotemporal dementia in elderly individuals.
Arch Neurol. 2012 Aug;69(8):1052-60. doi: 10.1001/archneurol.2011.3323.
7
Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease.
Neurobiol Aging. 2012 Aug;33(8):1846.e5-6. doi: 10.1016/j.neurobiolaging.2012.01.109. Epub 2012 Mar 10.
8
Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations.
Brain. 2012 Mar;135(Pt 3):693-708. doi: 10.1093/brain/awr355. Epub 2012 Feb 2.
9
Repeat expansion in C9ORF72 in Alzheimer's disease.
N Engl J Med. 2012 Jan 19;366(3):283-4. doi: 10.1056/NEJMc1113592. Epub 2012 Jan 4.
10
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.
Acta Neuropathol. 2011 Dec;122(6):691-702. doi: 10.1007/s00401-011-0911-2. Epub 2011 Nov 19.
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