Characteristics of frontotemporal dementia patients with a Progranulin mutation. - Wikidata - awgldk - TriplyDB

Characteristics of frontotemporal dementia patients with a Progranulin mutation.

Characteristics of frontotemporal dementia patients with a Progranulin mutation.

http://www.wikidata.org/entity/Q34330746

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Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia Progranulin: normal function and role in neurodegeneration Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration ALS and FTLD: two faces of TDP-43 proteinopathy.Progranulin (GRN) in two siblings of a Latino family and in other patients with schizophrenia.Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration Frontotemporal lobar degeneration: epidemiology, pathophysiology, diagnosis and management.Olfactory function in corticobasal syndrome and frontotemporal dementia Brain progranulin expression in GRN-associated frontotemporal lobar degeneration Prominent phenotypic variability associated with mutations in Progranulin A network of RNA and protein interactions in Fronto Temporal Dementia.Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients.Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort.Frontotemporal lobar degeneration: current concepts in the light of recent advances.Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN).Update on recent molecular and genetic advances in frontotemporal lobar degeneration.Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations.Alzheimer's disease genetics: from the bench to the clinic.Cellular factors modulating the mechanism of tau protein aggregation.Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations.Disease and Region Specificity of Granulin Immunopositivities in Alzheimer Disease and Frontotemporal Lobar Degeneration.Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.Association between progranulin and beta-amyloid in dementia with Lewy bodies.Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.Challenges and new opportunities in the investigation of new drug therapies to treat frontotemporal dementia

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P2860

Characteristics of frontotemporal dementia patients with a Progranulin mutation.

http://www.wikidata.org/entity/Q34330746

description

2006 nî lūn-bûn

@nan

2006 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2006 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年论文

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name

Characteristics of frontotemporal dementia patients with a Progranulin mutation.

@ast

Characteristics of frontotemporal dementia patients with a Progranulin mutation.

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Characteristics of frontotemporal dementia patients with a Progranulin mutation.

@nl

type

label

Characteristics of frontotemporal dementia patients with a Progranulin mutation.

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Characteristics of frontotemporal dementia patients with a Progranulin mutation.

@en

Characteristics of frontotemporal dementia patients with a Progranulin mutation.

@nl

prefLabel

Characteristics of frontotemporal dementia patients with a Progranulin mutation.

@ast

Characteristics of frontotemporal dementia patients with a Progranulin mutation.

@en

Characteristics of frontotemporal dementia patients with a Progranulin mutation.

@nl

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Annals of Neurology

P1476

Characteristics of frontotemporal dementia patients with a Progranulin mutation.

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P2093

Bernardino Ghetti

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Edward D Huey

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Eric M Wassermann

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Joshua W Elder

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Kyle A Heflin

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Matt Baker

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Michael C Tierney

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Mike Hutton

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Salvatore Spina

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Stephen L Berger

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P2860

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

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

The evolution and pathology of frontotemporal dementia

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

Comparison of family histories in FTLD subtypes and related tauopathies

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

The neurobehavioural rating scale: assessment of the behavioural sequelae of head injury by the clinician

The prevalence of frontotemporal dementia.

The role of tau (MAPT) in frontotemporal dementia and related tauopathies.

High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands

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374-380

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10.1002/ANA.20969

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3

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60

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Pietro Pietrini

Jordan Henry Grafman

John Anthony Hardy

Parastoo Momeni

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2006-09-01T00:00:00Z

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6810075

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16983677

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2987739

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