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Carolina Teixeira

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Open access Aug 2026

The spectrum of C9orf72 repeat lengths in Portuguese frontotemporal dementia and amyotrophic lateral sclerosis patients: from pathogenic expansions to intermediate alleles

Introduction Frontotemporal dementia and amyotrophic lateral sclerosis are clinically distinct disorders that share a common genetic etiology, with pathogenic hexanucleotide repeat expansions in the C9orf72 gene representing the most frequent genetic cause of both conditions. In this study we aim to determine the frequ...

M. R. Almeida, M. Tábuas-Pereira, A. Matos et al. · 0 citations

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