Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia
about
Mechanisms of FUS mutations in familial amyotrophic lateral sclerosisGenotype-phenotype correlations of amyotrophic lateral sclerosisPhenotypic Heterogeneity of Monogenic Frontotemporal DementiaModeling ALS and FTD with iPSC-derived neuronsFUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosisFUS transgenic rats develop the phenotypes of amyotrophic lateral sclerosis and frontotemporal lobar degenerationFrontotemporal dementia: a bridge between dementia and neuromuscular diseaseFUS-NLS/Transportin 1 complex structure provides insights into the nuclear targeting mechanism of FUS and the implications in ALSMutational analysis of FUS gene and its structural and functional role in amyotrophic lateral sclerosis 6.Protein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia ContinuumInherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.Distinct pathological subtypes of FTLD-FUS.Genetic overlap between apparently sporadic motor neuron diseases.A network of RNA and protein interactions in Fronto Temporal Dementia.Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.Exome sequencing identifies FUS mutations as a cause of essential tremor.Entorhinal cortical neurons are the primary targets of FUS mislocalization and ubiquitin aggregation in FUS transgenic rats.ALS/FTD Mutation-Induced Phase Transition of FUS Liquid Droplets and Reversible Hydrogels into Irreversible Hydrogels Impairs RNP Granule Function.Arginine methylation next to the PY-NLS modulates Transportin binding and nuclear import of FUS.The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrumALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granulesClinical aspects of familial forms of frontotemporal dementia associated with parkinsonism.De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case.Novel types of frontotemporal lobar degeneration: beyond tau and TDP-43.Neuropathological background of phenotypical variability in frontotemporal dementia.The frontotemporal syndromes of ALS. Clinicopathological correlates.Proteostasis and movement disorders: Parkinson's disease and amyotrophic lateral sclerosis.Making connections: pathology and genetics link amyotrophic lateral sclerosis with frontotemporal lobe dementia.Familial amyotrophic lateral sclerosis, a historical perspective.Genetics of dementia: update and guidelines for the clinician.Clinical and genetic heterogeneity of amyotrophic lateral sclerosis.TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update.Aberrant splicing in neurological diseases.Amyotrophic lateral sclerosis: an update on recent genetic insights.The role of FUS gene variants in neurodegenerative diseases.New perspective on parkinsonism in frontotemporal lobar degeneration.Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges.Selective vulnerability of motoneuron and perturbed mitochondrial calcium homeostasis in amyotrophic lateral sclerosis: implications for motoneurons specific calcium dysregulation.The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis.Parkinsonism, movement disorders and genetics in frontotemporal dementia.
P2860
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P2860
Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia
description
2010 nî lūn-bûn
@nan
2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Frameshift and novel mutations ...... ral sclerosis and ALS/dementia
@ast
Frameshift and novel mutations ...... ral sclerosis and ALS/dementia
@en
Frameshift and novel mutations ...... ral sclerosis and ALS/dementia
@nl
type
label
Frameshift and novel mutations ...... ral sclerosis and ALS/dementia
@ast
Frameshift and novel mutations ...... ral sclerosis and ALS/dementia
@en
Frameshift and novel mutations ...... ral sclerosis and ALS/dementia
@nl
prefLabel
Frameshift and novel mutations ...... ral sclerosis and ALS/dementia
@ast
Frameshift and novel mutations ...... ral sclerosis and ALS/dementia
@en
Frameshift and novel mutations ...... ral sclerosis and ALS/dementia
@nl
P2093
P2860
P1433
P1476
Frameshift and novel mutations ...... ral sclerosis and ALS/dementia
@en
P2093
K B Ahmeti
N Siddique
S Donkervoort
T Siddique
P2860
P304
P356
10.1212/WNL.0B013E3181F07E0C
P407
P577
2010-07-28T00:00:00Z