High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis.
about
TARDBP mutation analysis in TDP-43 proteinopathies and deciphering the toxicity of mutant TDP-43TARDBP mutations in Parkinson's disease.Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohortOligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations.Genetic architecture of ALS in SardiniaBroadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia.C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations.The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrumStructural analysis of disease-related TDP-43 D169G mutation: linking enhanced stability and caspase cleavage efficiency to protein accumulation.The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonismsATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update.Amyotrophic Lateral Sclerosis Genetic Studies: From Genome-wide Association Mapping to Genome Sequencing.Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations.Genetic mutations in RNA-binding proteins and their roles in ALS.Reduced stress granule formation and cell death in fibroblasts with the A382T mutation of TARDBP gene: evidence for loss of TDP-43 nuclear function.Amyotrophic lateral sclerosis with long lasting disease course and SOD1 and TARDBP mutations: Report of two cases and overview of the literature.
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P2860
High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh-hant
name
High frequency of the TARDBP p ...... amyotrophic lateral sclerosis.
@en
High frequency of the TARDBP p ...... amyotrophic lateral sclerosis.
@nl
type
label
High frequency of the TARDBP p ...... amyotrophic lateral sclerosis.
@en
High frequency of the TARDBP p ...... amyotrophic lateral sclerosis.
@nl
prefLabel
High frequency of the TARDBP p ...... amyotrophic lateral sclerosis.
@en
High frequency of the TARDBP p ...... amyotrophic lateral sclerosis.
@nl
P2093
P2860
P1433
P1476
High frequency of the TARDBP p ...... amyotrophic lateral sclerosis.
@en
P2093
P2860
P304
P356
10.1111/J.1399-0004.2011.01668.X
P577
2011-04-18T00:00:00Z