A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series - Wikidata - awgldk - TriplyDB

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series

http://www.wikidata.org/entity/Q36960858

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C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features Neologistic jargon aphasia and agraphia in primary progressive aphasia Molecular Pathways Bridging Frontotemporal Lobar Degeneration and Psychiatric Disorders Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia An algorithmic approach to structural imaging in dementia Temporoparietal hypometabolism in frontotemporal lobar degeneration and associated imaging diagnostic errors.Mapping the progression of progranulin-associated frontotemporal lobar degeneration Longitudinal neuroimaging and neuropsychological profiles of frontotemporal dementia with C9ORF72 expansions.Recent advances in the imaging of frontotemporal dementia.Measuring disease progression in frontotemporal lobar degeneration: a clinical and MRI study.FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration.Progranulin (GRN) in two siblings of a Latino family and in other patients with schizophrenia.Frontotemporal lobar degeneration: epidemiology, pathophysiology, diagnosis and management.Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations Progressive logopenic/phonological aphasia: erosion of the language network.TDP-43 subtypes are associated with distinct atrophy patterns in frontotemporal dementia.Does TDP-43 type confer a distinct pattern of atrophy in frontotemporal lobar degeneration?A morphometric study of the spatial patterns of TDP-43 immunoreactive neuronal inclusions in frontotemporal lobar degeneration (FTLD) with progranulin (GRN) mutation.An algorithm for genetic testing of frontotemporal lobar degeneration Progress in the last decade in our understanding of primary progressive aphasia.A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia.Altered functional connectivity in asymptomatic MAPT subjects: a comparison to bvFTD Clinical and neuroimaging biomarkers of amyloid-negative logopenic primary progressive aphasia.The non-fluent/agrammatic variant of primary progressive aphasia.Prion protein codon 129 polymorphism modifies age at onset of frontotemporal dementia with the C.709-1G>A progranulin mutation.Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features Asymmetric pathology in primary progressive aphasia with progranulin mutations and TDP inclusions.Quantitative classification of primary progressive aphasia at early and mild impairment stages Novel GRN Mutations in Patients with Corticobasal Syndrome Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort.Advances in understanding the molecular basis of frontotemporal dementia.Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series.Lack of TAR-DNA binding protein-43 (TDP-43) pathology in human prion diseases.Apolipoprotein E epsilon4 is associated with disease-specific effects on brain atrophy in Alzheimer's disease and frontotemporal dementia 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.Molecular nexopathies: a new paradigm of neurodegenerative disease.

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A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series

http://www.wikidata.org/entity/Q36960858

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A distinct clinical, neuropsyc ...... mutations in a large UK series

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A distinct clinical, neuropsyc ...... mutations in a large UK series

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A distinct clinical, neuropsyc ...... mutations in a large UK series

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Adrian Isaacs

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Andrew King

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Elizabeth K Warrington

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Janice Holton

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John Collinge

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John Stevens

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Jonathan Beck

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Safa Al-Sarraj

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Simon Mead

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Tamas Revesz

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P2860

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

Word-finding difficulty: a clinical analysis of the progressive aphasias.

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

Patterns of temporal lobe atrophy in semantic dementia and Alzheimer's disease

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

Progranulin: normal function and role in neurodegeneration

Response latencies in naming objects

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

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706-720

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scholarly article

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10.1093/BRAIN/AWM320

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Pt 3

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131

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Jason D. Warren

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Emily F. Goodall

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Karen E Morrison

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2008-01-29T00:00:00Z

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5616688

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18234697

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neuropsychology

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2577762

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