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Article

Clinicopathologic report of ocular involvement in ALS patients with C9orf72 mutation.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Dec 2014

Fawzi Amani A, Simonett Joseph M, Purta Patryk, Moss Heather E, Lowry Jessica L, Deng Han-Xiang, Siddique Nailah, Sufit Robert, Bigio Eileen H, Volpe Nicholas J, Siddique Teepu

Abstract excerpt

Our objective was to present clinicopathologic evidence of anterior visual pathway involvement in patients with amyotrophic lateral sclerosis (ALS) secondary to a C9orf72 mutation. Two related patients from an extended pedigree with ALS and GGGGCC hexanucleotide repeat expansion in the C9orf72 ge...

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Identifiers

PMID: 25319030
DOI: 10.3109/21678421.2014.951941
PMCID: PMC4327840

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25319030-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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