Article
Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patients.
Neurobiology of aging - 1 Jan 2021
Mol Merel O, van Rooij Jeroen G J, Wong Tsz H, Melhem Shamiram, Verkerk Annemieke J M H, Kievit Anneke J A, van Minkelen Rick, Rademakers Rosa, Pottier Cyril, Kaat Laura Donker, Seelaar Harro, van Swieten John C, Dopper Elise G P
Abstract excerpt
Frontotemporal dementia (FTD) presents with a wide variability in clinical syndromes, genetic etiologies, and underlying pathologies. Despite the discovery of pathogenic variants in several genes, many familial cases remain unsolved. In a large FTD cohort of 198 familial patients, we aimed to determine the types and frequencies of variants in genes related to FTD. Pathogenic or likely pathogenic variants were...
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