Novel TARDBP sequence variant and C9ORF72 repeat expansion in a family with frontotemporal dementia.
about
The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristicsDefining the spectrum of frontotemporal dementias associated with TARDBP mutations.C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.C9ORF72 hexanucleotide repeats in behavioral and motor neuron disease: clinical heterogeneity and pathological diversity.OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia.Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype.GBA-associated parkinsonism and dementia: beyond α-synucleinopathies?
P2860
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P2860
Novel TARDBP sequence variant and C9ORF72 repeat expansion in a family with frontotemporal dementia.
description
2014 nî lūn-bûn
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name
Novel TARDBP sequence variant ...... with frontotemporal dementia.
@ast
Novel TARDBP sequence variant ...... with frontotemporal dementia.
@en
type
label
Novel TARDBP sequence variant ...... with frontotemporal dementia.
@ast
Novel TARDBP sequence variant ...... with frontotemporal dementia.
@en
prefLabel
Novel TARDBP sequence variant ...... with frontotemporal dementia.
@ast
Novel TARDBP sequence variant ...... with frontotemporal dementia.
@en
P2093
P2860
P1476
Novel TARDBP sequence variant ...... y with frontotemporal dementia
@en
P2093
Anna-Lotta Kaivorinne
Anne M Remes
Bryan J Traynor
Kari Majamaa
Marko Kervinen
Virpi Moilanen
P2860
P304
P356
10.1097/WAD.0B013E318266FAE5
P407
P50
P577
2014-04-01T00:00:00Z