Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia. - Wikidata - awgldk - TriplyDB

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia.

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia.

http://www.wikidata.org/entity/Q35171397

about

TARDBP mutation analysis in TDP-43 proteinopathies and deciphering the toxicity of mutant TDP-43 From animal models to human disease: a genetic approach for personalized medicine in ALS Genotype-phenotype correlations of amyotrophic lateral sclerosis Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia Parkinsonian syndrome in familial frontotemporal dementia TARDBP mutations in Parkinson's disease.Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations.Genetic overlap between apparently sporadic motor neuron diseases.Association studies of MMP-9 in Parkinson's disease and amyotrophic lateral sclerosis.A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid plaques Angiogenin variation and Parkinson disease Large C9orf72 repeat expansions are not a common cause of Parkinson's disease.Neurodegeneration the RNA way The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms Clinical neurogenetics: amyotrophic lateral sclerosis.Protein misdirection inside and outside motor neurons in Amyotrophic Lateral Sclerosis (ALS): a possible clue for therapeutic strategies Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis.Regulated protein aggregation: stress granules and neurodegeneration TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update.Investigating FUS variation in Parkinson's disease.Parkinsonism and inborn errors of metabolism.Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges.Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations.Parkinsonism, movement disorders and genetics in frontotemporal dementia.Genetics of FTLD: overview and what else we can expect from genetic studies.RNA-binding proteins with prion-like domains in health and disease.An association analysis of the rs1572931 polymorphism of the RAB7L1 gene in Parkinson's disease, amyotrophic lateral sclerosis and multiple system atrophy in China.No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden.Familial Amyotrophic Lateral Sclerosis.Early onset Parkinsonism associated with an intronic SOD1 mutation

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P2860

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia.

http://www.wikidata.org/entity/Q35171397

description

2011 nî lūn-bûn

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2011 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2011 թվականի հունիսին հրատարակված գիտական հոդված

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2011年の論文

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2011年学术文章

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2011年学术文章

@zh-cn

2011年学术文章

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2011年学术文章

@zh-my

2011年学术文章

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2011年學術文章

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name

Broadening the phenotype of TA ...... rkinson's disease in Sardinia.

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Broadening the phenotype of TA ...... rkinson's disease in Sardinia.

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type

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Broadening the phenotype of TA ...... rkinson's disease in Sardinia.

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Broadening the phenotype of TA ...... rkinson's disease in Sardinia.

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prefLabel

Broadening the phenotype of TA ...... rkinson's disease in Sardinia.

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Broadening the phenotype of TA ...... rkinson's disease in Sardinia.

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Broadening the phenotype of TA ...... rkinson's disease in Sardinia.

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Anna Ticca

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Ben A Oostra

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Daniela Murgia

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Erik J Simons

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Giovanni Cossu

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Marialuisa Quadri

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Maurizio Melis

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Valeria Saddi

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P2860

Y-chromosome based evidence for pre-neolithic origin of the genetically homogeneous but diverse Sardinian population: inference for association scans

Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

No evidence for cognitive dysfunction or depression in patients with mild restless legs syndrome.

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Vincenzo Bonifati

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