Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72. - Wikidata - awgldk - TriplyDB

Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.

Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.

http://www.wikidata.org/entity/Q30580436

about

Neuroinflammation in Multiple System Atrophy: Response to and Cause of α-Synuclein Aggregation Genetics Underlying Atypical Parkinsonism and Related Neurodegenerative Disorders C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases Cell-type specific differences in promoter activity of the ALS-linked C9orf72 mouse ortholog.Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions.Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine.The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.Hexanucleotide Repeat Expansion in C9ORF72 Is Not Detected in the Treatment-Resistant Schizophrenia Patients of Chinese Han.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.Multiple system atrophy: the application of genetics in understanding etiology.Neuropathology of multiple system atrophy: new thoughts about pathogenesis.Multiple system atrophy: genetic or epigenetic?Motor neuron disease-frontotemporal dementia: a clinical continuum.Parkinsonism, movement disorders and genetics in frontotemporal dementia.The clinical spectrum of sporadic and familial forms of frontotemporal dementia.Multiple system atrophy and repeat expansions in C9orf72--reply.C9orf72 repeat expansions as genetic modifiers for depression in spinocerebellar ataxias.Frontotemporal lobar degeneration-TDP with 'multiple system atrophy phenocopy syndrome'.Multiple System Atrophy: An Oligodendroglioneural Synucleinopathy.Pure cerebellar ataxia linked to large C9orf72 repeat expansion Intrafamilial Phenotypic Variability in the Gene Expansion: 2 Case Studies

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Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.

http://www.wikidata.org/entity/Q30580436

description

2014 nî lūn-bûn

@nan

2014 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի հունիսին 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

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2014年论文

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name

Multiple system atrophy and am ...... repeat expansions in C9orf72.

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Multiple system atrophy and am ...... repeat expansions in C9orf72.

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type

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Multiple system atrophy and am ...... repeat expansions in C9orf72.

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Multiple system atrophy and am ...... repeat expansions in C9orf72.

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Multiple system atrophy and am ...... repeat expansions in C9orf72.

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Multiple system atrophy and am ...... repeat expansions in C9orf72.

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JAMANEUROL.2013.5762

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Multiple system atrophy and am ...... e repeat expansions in C9orf72

@en

P2093

Catarina Quinzii

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Cheryl Waters

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Edward D Huey

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Jane Dunning-Broadbent

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Peter Nagy

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Stephanie Cosentino

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Thomas H Brannagan

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P2860

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

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

Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics

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

Second consensus statement on the diagnosis of multiple system atrophy

Longitudinal neuroimaging and neuropsychological profiles of frontotemporal dementia with C9ORF72 expansions.

Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2.

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771-774

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scholarly article

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10.1001/JAMANEUROL.2013.5762

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6

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71

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Hiroshi Mitsumoto

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2014-06-01T00:00:00Z

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24733620

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amyotrophic lateral sclerosis

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4051831

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