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Article

Familial amyotrophic lateral sclerosis with an I104F mutation in the SOD1 gene: Multisystem degeneration with neurofilamentous aggregates and SOD1 inclusions.

Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Feb 2017

Jiang Haishan, Shimizu Hiroshi, Shiga Atsushi, Tanaka Masami, Onodera Osamu, Kakita Akiyoshi, Takahashi Hitoshi

Abstract excerpt

We previously reported familial amyotrophic lateral sclerosis (FALS) of 11 years duration in a 57-year-old woman, who received artificial ventilation for 5 years prior to death and exhibited widespread multisystem degeneration and neurofilamentous aggregates, so-called conglomerate inclusions (CIs). In the present study, we re-evaluated this autopsied patient (proband) with further immunohistochemical observation...

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PMID: 27444855
DOI: 10.1111/neup.12324

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SOD1

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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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