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Systematic Screening of Ubiquitin/p62 Aggregates in Cerebellar Cortex Expands the Neuropathological Phenotype of the C9orf72 Expansion Mutation.

Journal of neuropathology and experimental neurology - 1 Aug 2018

Ramos-Campoy Oscar, Ávila-Polo Rainiero, Grau-Rivera Oriol, Antonell Anna, Clarimón Jordi, Rojas-García Ricardo, Charif Sara, Santiago-Valera Veronica, Hernandez Isabel, Aguilar Miquel, Almenar Consuelo, Lopez-Villegas Dolores, Bajo Lorena, Pastor Pau, Van der Zee Julie, Lladó Albert, Sanchez-Valle Raquel, Gelpi Ellen

Abstract excerpt

The neuropathological hallmark of the C9orf72 intronic hexanucleotide expansion in frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) is the presence of small ubiquitin/p62-positive and transactive response DNA binding protein 43 kDa (TDP-43)-negative cytoplasmic inclusions in several brain areas. The identification of this histopathological signature is highly predictive of an...

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PMID: 29889265
DOI: 10.1093/jnen/nly047

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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