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Article

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72.

Acta neuropathologica - 1 Dec 2011

Murray Melissa E, DeJesus-Hernandez Mariely, Rutherford Nicola J, Baker Matt, Duara Ranjan, Graff-Radford Neill R, Wszolek Zbigniew K, Ferman Tanis J, Josephs Keith A, Boylan Kevin B, Rademakers Rosa, Dickson Dennis W

Abstract excerpt

Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are part of a disease spectrum associated with TDP-43 pathology. Strong evidence supporting this is the existence of kindreds with family members affected by FTD, ALS or mixed features of FTD and ALS, referred to as FTD-MND. Some of these families have linkage to chromosome 9, with hexanucleotide expansion mutation in a noncoding region of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22083254
DOI: 10.1007/s00401-011-0907-y
PMCID: PMC3277860

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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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