Search Results - "KARYDAS, A. M"
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TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers
Published in Neurology (01-02-2011)“…To determine whether TMEM106B single nucleotide polymorphisms (SNPs) are associated with frontotemporal lobar degeneration (FTLD) in patients with and without…”
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Diagnostic value of plasma phosphorylated tau181 in Alzheimer’s disease and frontotemporal lobar degeneration
Published in Nature medicine (01-03-2020)“…With the potential development of new disease-modifying Alzheimer’s disease (AD) therapies, simple, widely available screening tests are needed to identify…”
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Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion
Published in Brain (London, England : 1878) (01-11-2014)“…Hexanucleotide repeat expansion in C9orf72 represents the most common genetic cause of familial and sporadic behavioural variant frontotemporal dementia…”
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Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia
Published in Scientific reports (26-07-2019)“…The semantic variant of primary progressive aphasia (svPPA) is a clinical syndrome characterized by neurodegeneration and progressive loss of semantic…”
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Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C→T (Arg493X) mutation: an international initiative
Published in Lancet neurology (01-10-2007)“…Summary Background The progranulin gene ( GRN ) is mutated in 5–10% of patients with frontotemporal lobar degeneration (FTLD) and in about 20% of patients with…”
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