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Article

Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion.

Acta neuropathologica - 1 Jun 2012

Brettschneider Johannes, Van Deerlin Vivianna M, Robinson John L, Kwong Linda, Lee Edward B, Ali Yousuf O, Safren Nathaniel, Monteiro Mervyn J, Toledo Jon B, Elman Lauren, McCluskey Leo, Irwin David J, Grossman Murray, Molina-Porcel Laura, Lee Virginia M-Y, Trojanowski John Q

Abstract excerpt

C9ORF72-hexanucleotide repeat expansions and ubiquilin-2 (UBQLN2) mutations are recently identified genetic markers in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). We investigate the relationship between C9ORF72 expansions and the clinical phenotype and neuropathology of ALS and FTLD. Genetic analysis and immunohistochemistry (IHC) were performed on autopsy-confirmed ALS (N =...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22426854
DOI: 10.1007/s00401-012-0970-z
PMCID: PMC3521561

Genes

UBQLN2

Provenance

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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