Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. - Test2 - elhamkhani - TriplyDB

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

http://www.wikidata.org/entity/Q35776914

about

Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia Cognitive and behavioral features of c9FTD/ALS Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis Frontotemporal dementia: a bridge between dementia and neuromuscular disease C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases Searching for Grendel: origin and global spread of the C9ORF72 repeat expansion Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease.Protein Homeostasis in Amyotrophic Lateral Sclerosis: Therapeutic Opportunities?Age-related penetrance of the C9orf72 repeat expansion.Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions Memory deficits in amyotrophic lateral sclerosis are not exclusively caused by executive dysfunction: a comparative neuropsychological study of amnestic mild cognitive impairment C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.ALS-Plus syndrome: non-pyramidal features in a large ALS cohort.Are there susceptibility factors for primary progressive aphasia?The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.Grey and white matter changes across the amyotrophic lateral sclerosis-frontotemporal dementia continuum.Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis.A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia.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.Genetic background effects on disease onset and lifespan of the mutant dynactin p150Glued mouse model of motor neuron disease Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patients Drosha inclusions are new components of dipeptide-repeat protein aggregates in FTLD-TDP and ALS C9orf72 expansion cases TDP-43 pathology and neuronal loss in amyotrophic lateral sclerosis spinal cord The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.C9orf72 promoter hypermethylation is neuroprotective: Neuroimaging and neuropathologic evidence.Lysosomal and phagocytic activity is increased in astrocytes during disease progression in the SOD1 (G93A) mouse model of amyotrophic lateral sclerosis.Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study.Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature.Large C9orf72 repeat expansions are not a common cause of Parkinson's disease.C9ORF72 expression and cellular localization over mouse development.The RNA-binding motif 45 (RBM45) protein accumulates in inclusion bodies in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) patients.Extensive genetics of ALS: a population-based study in Italy.Expanding the genetics of amyotrophic lateral sclerosis and frontotemporal dementia.Dystrophic neurites express C9orf72 in Alzheimer's disease brains.Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis.Distinct TDP-43 pathology in ALS patients with ataxin 2 intermediate-length polyQ expansions.Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome Neuroimaging features of C9ORF72 expansion

P2860

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P2860

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

http://www.wikidata.org/entity/Q35776914

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2012 nî lūn-bûn

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Clinico-pathological features ...... is with expansions in C9ORF72.

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Alice Brockington

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Antonio Milano

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Bryan J Traynor

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Catherine Gelsthorpe

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Christopher Hewitt

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Christopher J McDermott

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Gillian Forster

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J Robin Highley

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Joanne Martindale

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Judith Hartley

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P2860

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

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

A harmonized classification system for FTLD-TDP pathology

Exome sequencing reveals VCP mutations as a cause of familial ALS

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

TDP-43 overexpression enhances exon 7 inclusion during the survival of motor neuron pre-mRNA splicing

Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

Mutations of optineurin in amyotrophic lateral sclerosis

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10.1093/BRAIN/AWR365

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Pt 3

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135

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Johnathan Cooper-Knock

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amyotrophic lateral sclerosis

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