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Rapidly progressive frontotemporal dementia and bulbar amyotrophic lateral sclerosis in Portuguese patients with C9orf72 mutation.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Jan 2013

Chester Catarina, de Carvalho Mamede, Miltenberger Gabriel, Pereira Sónia, Dillen Lubina, van der Zee Julie, van Broeckhoven Christine, de Mendonça Alexandre

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) form a spectrum of clinically, pathologically, and genetically overlapping disorders, as confirmed by the recent report that it can be caused by a hexanucleotide repeat expansion in C9orf72. One hundred and fourteen Portuguese cases diagnosed as probable or possible familial FTLD, as part of the EOD consortium study, and nine further...

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Identifiers

PMID: 22742426
DOI: 10.3109/17482968.2012.690418

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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