Prominent phenotypic variability associated with mutations in Progranulin - Wikidata - wikimedia - TriplyDB

Prominent phenotypic variability associated with mutations in Progranulin

Prominent phenotypic variability associated with mutations in Progranulin

http://www.wikidata.org/entity/Q35188858

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Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia The behavioural variant frontotemporal dementia (bvFTD) syndrome in psychiatry Mechanisms of granulin deficiency: lessons from cellular and animal models Parkinsonian syndrome in familial frontotemporal dementia Characterization of Movement Disorder Phenomenology in Genetically Proven, Familial Frontotemporal Lobar Degeneration: A Systematic Review and Meta-Analysis.The corticobasal syndrome-Alzheimer's disease conundrum Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis Recent advances in the imaging of frontotemporal dementia.Progranulin is expressed within motor neurons and promotes neuronal cell survival Accumulation of multiple neurodegenerative disease-related proteins in familial frontotemporal lobar degeneration associated with granulin mutation.Asymmetric TDP-43 distribution in primary progressive aphasia with progranulin mutation FTLD-TDP with motor neuron disease, visuospatial impairment and a progressive supranuclear palsy-like syndrome: broadening the clinical phenotype of TDP-43 proteinopathies. A report of three cases.A novel GRN mutation (GRN c.708+6_+9delTGAG) in frontotemporal lobar degeneration with TDP-43-positive inclusions: clinicopathologic report of 6 cases REM sleep behavior disorder: Updated review of the core features, the REM sleep behavior disorder-neurodegenerative disease association, evolving concepts, controversies, and future directions.Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration.Altered microRNA expression in frontotemporal lobar degeneration with TDP-43 pathology caused by progranulin mutations.Imaging correlates of pathology in corticobasal syndrome.rs5848 polymorphism and serum progranulin level Trajectories of brain and hippocampal atrophy in FTD with mutations in MAPT or GRN.Progranulin gene delivery protects dopaminergic neurons in a mouse model of Parkinson's disease.Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72 Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p Similar clinical and neuroimaging features in monozygotic twin pair with mutation in progranulin.The non-fluent/agrammatic variant of primary progressive aphasia.Amyloid in dementia associated with familial FTLD: not an innocent bystander.Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic.Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis.A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members Voxel-based morphometry patterns of atrophy in FTLD with mutations in MAPT or PGRN Update on recent molecular and genetic advances in frontotemporal lobar degeneration.Anterior brain glucose hypometabolism predates dementia in progranulin mutation carriers Genetic and neuroanatomic associations in sporadic frontotemporal lobar degeneration.Role of progranulin as a biomarker for Alzheimer's disease.Neuropathological background of phenotypical variability in frontotemporal dementia.Neuropathology underlying clinical variability in patients with synucleinopathies."Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide.

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Prominent phenotypic variability associated with mutations in Progranulin

http://www.wikidata.org/entity/Q35188858

description

2007 nî lūn-bûn

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2007 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2007 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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Prominent phenotypic variability associated with mutations in Progranulin

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Prominent phenotypic variability associated with mutations in Progranulin

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type

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Prominent phenotypic variability associated with mutations in Progranulin

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Prominent phenotypic variability associated with mutations in Progranulin

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prefLabel

Prominent phenotypic variability associated with mutations in Progranulin

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Prominent phenotypic variability associated with mutations in Progranulin

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J.NEUROBIOLAGING.2007.08.022

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Neurobiology of Aging

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Prominent phenotypic variability associated with mutations in Progranulin

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Keith A Josephs

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Matt Baker

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Mike Hutton

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P2860

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

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

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

Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.

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

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Rosa Rademakers

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