Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin. - Wikidata - awgldk - TriplyDB

Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.

Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.

http://www.wikidata.org/entity/Q33984548

about

Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families Progranulin protects against amyloid β deposition and toxicity in Alzheimer's disease mouse models.Accumulation of multiple neurodegenerative disease-related proteins in familial frontotemporal lobar degeneration associated with granulin mutation.Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration.An algorithm for genetic testing of frontotemporal lobar degeneration Evidence for a Common Founder and Clinical Characteristics of Japanese Families with the MAPT R406W Mutation Genomics of Dementia: APOE- and CYP2D6-Related Pharmacogenetics.C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic.Progranulin: an emerging target for FTLD therapies.C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease Human genetics as a tool to identify progranulin regulators.Genetics of dementia: update and guidelines for the clinician.Alzheimer's disease genetics: from the bench to the clinic.Progranulin haploinsufficiency reduces amyloid beta deposition in Alzheimer's disease model mice.Opposing effects of progranulin deficiency on amyloid and tau pathologies via microglial TYROBP network.Progranulin gene delivery reduces plaque burden and synaptic atrophy in a mouse model of Alzheimer's disease.The GGGGCC repeat expansion in C9ORF72 in a case with discordant clinical and FDG-PET findings: PET trumps syndrome.Intracellular Proteolysis of Progranulin Generates Stable, Lysosomal Granulins that Are Haploinsufficient in Patients with Frontotemporal Dementia Caused by GRN Mutations.Progranulin reduction is associated with increased tau phosphorylation in P301L tau transgenic mice.Frontotemporal dementia-related gene mutations in clinical dementia patients from a Chinese population.Genetic Heterogeneity of Alzheimer's Disease: Embracing Research Partnerships.Targeting microglia for the treatment of Alzheimer's Disease.Future Trends in the Pharmacogenomics of Brain Disorders and Dementia: Influence of APOE and CYP2D6 Variants.Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease.

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P2860

Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.

http://www.wikidata.org/entity/Q33984548

description

2010 nî lūn-bûn

@nan

2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2010年の論文

@ja

2010年論文

@yue

2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

@wuu

name

Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.

@ast

Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.

@en

type

label

Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.

@ast

Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.

@en

prefLabel

Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.

@ast

Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.

@en

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ARCHNEUROL.2010.113

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Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.

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Bradley F Boeve

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Brendan J Kelley

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Jennifer Adamson

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Joseph E Parisi

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Karen M Kuntz

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Maria Shiung

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Matt Baker

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Mike Hutton

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Wael Haidar

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P2860

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

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

Mild cognitive impairment as a diagnostic entity

HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin

Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease.

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.

Clinically undetected motor neuron disease in pathologically proven frontotemporal lobar degeneration with motor neuron disease.

Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations.

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Rosa Rademakers

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20142525

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Alzheimer's disease

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2902004

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