The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.
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ALS Patient Stem Cells for Unveiling Disease Signatures of Motoneuron Susceptibility: Perspectives on the Deadly Mitochondria, ER Stress and Calcium TriadClinical and genetic basis of familial amyotrophic lateral sclerosisC9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseasesWhat causes amyotrophic lateral sclerosis?Bioinformatics Data Mining Approach Suggests Coexpression of AGTPBP1 with an ALS-linked Gene C9orf72.C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten.Molecular network analysis suggests a logical hypothesis for the pathological role of c9orf72 in amyotrophic lateral sclerosis/frontotemporal dementia.Rac1 at the crossroad of actin dynamics and neuroinflammation in Amyotrophic Lateral Sclerosis.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 SclerosisAntisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degenerationG4-associated human diseases.C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTDA Common Variant of PROK1 (V67I) Acts as a Genetic Modifier in Early Human Pregnancy through Down-Regulation of Gene Expression.Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort.Phenotypic and molecular analyses of primary lateral sclerosis.Screening for novel hexanucleotide repeat expansions at ALS- and FTD-associated loci.Using the Disease State Fingerprint Tool for Differential Diagnosis of Frontotemporal Dementia and Alzheimer's Disease.Oligodendrocytes contribute to motor neuron death in ALS via SOD1-dependent mechanism.Increased expression of the frontotemporal dementia risk factor TMEM106B causes C9orf72-dependent alterations in lysosomes.C9ORF72 hexanucleotide repeats in behavioral and motor neuron disease: clinical heterogeneity and pathological diversity.The phenotypic variability of amyotrophic lateral sclerosis.Challenges in the Understanding and Treatment of Amyotrophic Lateral Sclerosis/Motor Neuron Disease.Mitochondrial dynamism and the pathogenesis of Amyotrophic Lateral Sclerosis.Clinical update on frontotemporal dementia: diagnosis and treatment.Current developments in gene therapy for amyotrophic lateral sclerosis.Cognitive Profile of C9orf72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.Promising Targets for the Treatment of Neurodegenerative Diseases.Parkinsonism, movement disorders and genetics in frontotemporal dementia.TDP-43 aggregation mirrors TDP-43 knockdown, affecting the expression levels of a common set of proteins.Nuclear trafficking in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.RNA-binding proteins implicated in neurodegenerative diseases.Comparative analysis of C9orf72 and sporadic disease in an ALS clinic populationAccrued somatic mutations (nucleic acid changes) trigger ALS: 2005-2015 update.Phenotypic variability related to C9orf72 mutation in a large Sardinian kindred.C9orf72 is required for proper macrophage and microglial function in mice.Biological Spectrum of Amyotrophic Lateral Sclerosis Prions.Dementia in motor neuron disease: Reviewing the role of MRI in diagnosis.RNA-binding proteins in neurodegeneration: mechanisms in aggregate.
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P2860
The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.
description
2014 nî lūn-bûn
@nan
2014 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի մարտին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
The widening spectrum of C9ORF ...... difiers of clinical phenotype.
@ast
The widening spectrum of C9ORF ...... difiers of clinical phenotype.
@en
The widening spectrum of C9ORF ...... difiers of clinical phenotype.
@nl
type
label
The widening spectrum of C9ORF ...... difiers of clinical phenotype.
@ast
The widening spectrum of C9ORF ...... difiers of clinical phenotype.
@en
The widening spectrum of C9ORF ...... difiers of clinical phenotype.
@nl
prefLabel
The widening spectrum of C9ORF ...... difiers of clinical phenotype.
@ast
The widening spectrum of C9ORF ...... difiers of clinical phenotype.
@en
The widening spectrum of C9ORF ...... difiers of clinical phenotype.
@nl
P2860
P50
P1476
The widening spectrum of C9ORF ...... difiers of clinical phenotype.
@en
P2860
P2888
P304
P356
10.1007/S00401-014-1251-9
P577
2014-02-04T00:00:00Z
2014-03-01T00:00:00Z
P5875
P6179
1047093620