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Article

Different clinical and neuropathologic phenotypes of familial ALS with A315E TARDBP mutation.

Neurology - 11 Oct 2011

Fujita Y, Ikeda M, Yanagisawa T, Senoo Y, Okamoto K

Abstract excerpt

OBJECTIVE: To present the relationship between TARDBP gene mutation and clinicopathologic findings of a Japanese pedigree affected by familial amyotrophic lateral sclerosis (FALS). METHODS: The clinical, genetic, and neuropathologic characteristics of 4 members of a Japanese pedigree affected by FALS were examined. RESULTS: All the patients showed motor neuron signs, and 2 of them also had parkinsonism. We...

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Source

Identifiers

PMID: 21956716
DOI: 10.1212/WNL.0b013e318232ab87

Genes

TARDBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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