C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies - Test2 - elhamkhani - TriplyDB

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

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Recent advances in amyotrophic lateral sclerosis Genotype-phenotype correlations of amyotrophic lateral sclerosis C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases C9orf72 nucleotide repeat structures initiate molecular cascades of disease.Improved high sensitivity screen for Huntington disease using a one-step triplet-primed PCR and melting curve assay.Cell-type specific differences in promoter activity of the ALS-linked C9orf72 mouse ortholog.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 expansion Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.Aberrant RNA homeostasis in amyotrophic lateral sclerosis: potential for new therapeutic targets?Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine.G-quadruplex structures formed by expanded hexanucleotide repeat RNA and DNA from the neurodegenerative disease-linked C9orf72 gene efficiently sequester and activate heme.The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature.Emerging role of RNA•DNA hybrids in C9orf72-linked neurodegeneration.Network degeneration and dysfunction in presymptomatic C9ORF72 expansion carriers.Chorea as a clinical feature of the basophilic inclusion body disease subtype of fused-in-sarcoma-associated frontotemporal lobar degeneration Recent advances in genetics of chorea A(a)LS: Ammonia-induced amyotrophic lateral sclerosis.Antisense oligonucleotide therapy for the treatment of C9ORF72 ALS/FTD diseases.The phenotypic variability of amyotrophic lateral sclerosis.Diagnosis and treatment of chorea syndromes.Cognitive Profile of C9orf72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.Epidemiology and molecular mechanism of frontotemporal lobar degeneration/amyotrophic lateral sclerosis with repeat expansion mutation in C9orf72.Mutant Huntingtin Disrupts the Nuclear Pore Complex.Parkinsonism, movement disorders and genetics in frontotemporal dementia.Genetics of FTLD: overview and what else we can expect from genetic studies.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.The clinical spectrum of sporadic and familial forms of frontotemporal dementia.Hereditary chorea - what else to consider when the Huntington's disease genetics test is negative?Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity.R Loops and Links to Human Disease.A Systematic Review of the Huntington Disease-Like 2 Phenotype.Diversity of Cognitive Phenotypes Associated with C9ORF72 Hexanucleotide Expansion.Is There Convincing Evidence that Intermediate Repeats in the HTT Gene Cause Huntington's Disease?C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population.Multiple system atrophy and repeat expansions in C9orf72--reply.C9orf72 expansion as a possible genetic cause of Huntington disease phenocopy syndrome.Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.C9ORF72 and the FTD-ALS spectrum: A systematic review of neuroimaging studies.

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P2860

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

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description

2014 nî lūn-bûn

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2014 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի հունվարին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

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C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

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C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

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C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

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C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

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C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

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C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

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C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

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C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

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C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

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Ese Mudanohwo

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P2860

Behavioral variant frontotemporal lobar degeneration with amyotrophic lateral sclerosis with a chromosome 9p21 hexanucleotide repeat

Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

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Sarah J. Tabrizi

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2014-01-28T00:00:00Z

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Huntington disease

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