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Article

Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis.

Neurology - 7 May 2013

Cannon Ashley, Fujioka Shinsuke, Rutherford Nicola J, Ferman Tanis J, Broderick Daniel F, Boylan Kevin B, Graff-Radford Neill R, Uitti Ryan J, Rademakers Rosa, Wszolek Zbigniew K, Dickson Dennis W

Abstract excerpt

OBJECTIVE: We examined the clinical and pathologic phenotypes of GRN mutation carriers with the pathogenic A9D (g.26C>A) missense mutation. METHODS: Three patients with GRN A9D mutations were evaluated clinically and came to autopsy with subsequent neuropathologic examination. RESULTS: The clinic...

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Source

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Identifiers

PMID: 23596077
DOI: 10.1212/WNL.0b013e3182919059
PMCID: PMC3719429

Genes

GRN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23596077-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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