Jump from pre-mutation to pathologic expansion in C9orf72.
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Marked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells.Epidemiology and molecular mechanism of frontotemporal lobar degeneration/amyotrophic lateral sclerosis with repeat expansion mutation in C9orf72.Genetics of Frontotemporal Lobar Degeneration: From the Bench to the Clinic.ALS and FTD: an epigenetic perspective.Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene.Modelling C9orf72 dipeptide repeat proteins of a physiologically relevant size.DNA methylation age-acceleration is associated with disease duration and age at onset in C9orf72 patientsIn-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers.Improved PCR based methods for detecting C9orf72 hexanucleotide repeat expansions.Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression.The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration.C9orf72 and ATXN2 repeat expansions coexist in a family with ataxia, dementia, and parkinsonism.A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease.Role of Genetics and Epigenetics in the Pathogenesis of Alzheimer's Disease and Frontotemporal Dementia.A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers
P2860
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P2860
Jump from pre-mutation to pathologic expansion in C9orf72.
description
2015 nî lūn-bûn
@nan
2015年の論文
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2015年論文
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2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
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2015年论文
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name
Jump from pre-mutation to pathologic expansion in C9orf72.
@en
type
label
Jump from pre-mutation to pathologic expansion in C9orf72.
@en
prefLabel
Jump from pre-mutation to pathologic expansion in C9orf72.
@en
P2093
P2860
P50
P1476
Jump from pre-mutation to pathologic expansion in C9orf72.
@en
P2093
Christine Sato
Danielle Moreno
Dennis W Dickson
Erin Knock
Ian R Mackenzie
Janice Robertson
Jesse R McLean
Julia Keith
Kevin B Boylan
Lorne Zinman
P2860
P304
P356
10.1016/J.AJHG.2015.04.016
P407
P577
2015-05-21T00:00:00Z