Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation

Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation

Item
http://www.wikidata.org/entity/Q34659435
Establishing the UK DNA Bank for motor neuron disease (MND).The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansionCan ALS-associated C9orf72 repeat expansions be diagnosed on a blood DNA test alone?The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral SclerosisA novel resource for studying function and dysfunction of α-synuclein: mouse lines for modulation of endogenous Snca gene expression.C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles.Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansionThe C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.Jump from pre-mutation to pathologic expansion in C9orf72.Detection of long repeat expansions from PCR-free whole-genome sequence data.Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia.Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD.Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology.Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS.
P2860

Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation

Item
http://www.wikidata.org/entity/Q34659435
description
2013 nî lūn-bûn
@nan
2013 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Simultaneous and independent d ...... of Southern blot hybridisation
@ast
Simultaneous and independent d ...... of Southern blot hybridisation
@en
Simultaneous and independent d ...... of Southern blot hybridisation
@nl
type
label
Simultaneous and independent d ...... of Southern blot hybridisation
@ast
Simultaneous and independent d ...... of Southern blot hybridisation
@en
Simultaneous and independent d ...... of Southern blot hybridisation
@nl
prefLabel
Simultaneous and independent d ...... of Southern blot hybridisation
@ast
Simultaneous and independent d ...... of Southern blot hybridisation
@en
Simultaneous and independent d ...... of Southern blot hybridisation
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P478
P50
P577
P5875
P6179
P698
P932
P356
P1433
P1476
Simultaneous and independent d ...... of Southern blot hybridisation
@en
P2093
P2860
P2888
P304
P31
P356
P478
P50
P577
P5875
P6179
P698
P932