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Article

Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease.

Annals of neurology - 1 Nov 2010

Luty Agnes A, Kwok John B J, Dobson-Stone Carol, Loy Clement T, Coupland Kirsten G, Karlström Helena, Sobow Tomasz, Tchorzewska Joanna, Maruszak Aleksandra, Barcikowska Maria, Panegyres Peter K, Zekanowski Cezary, Brooks William S, Williams Kelly L, Blair Ian P, Mather Karen A, Sachdev Perminder S, Halliday Glenda M, Schofield Peter R

Abstract excerpt

OBJECTIVE: Frontotemporal lobar degeneration (FTLD) is the most common cause of early-onset dementia. Pathological ubiquitinated inclusion bodies observed in FTLD and motor neuron disease (MND) comprise trans-activating response element (TAR) DNA binding protein (TDP-43) and/or fused in sarcoma (...

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Source

Identifiers

PMID: 21031579
DOI: 10.1002/ana.22274

Genes

SIGMAR1
FUS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21031579-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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