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Article

Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS.

Neurobiology of disease - 1 Dec 2012

González-Pérez Paloma, Lu Yubing, Chian Ru-Ju, Sapp Peter C, Tanzi Rudolph E, Bertram Lars, McKenna-Yasek Diane, Gao Fen-Biao, Brown Robert H

Abstract excerpt

UNLABELLED: Genetic variants in UBQLN1 gene have been linked to neurodegeneration and mutations in UBQLN2 have recently been identified as a rare cause of amyotrophic lateral sclerosis (ALS). OBJECTIVE: To test if genetic variants in UBQLN1 are involved in ALS. METHODS: 102 and 94 unrelated patie...

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Source

Open in PubMed Open full text

Identifiers

PMID: 22766032
DOI: 10.1016/j.nbd.2012.06.018
PMCID: PMC4245016

Genes

UBQLN1
UBQLN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22766032-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS.PMID 22766032Read ↗

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A meta-analysis of genetic variant pathogenicity and sex differences in<i>UBQLN2</i>-linked amyotrophic lateral sclerosis and frontotemporal dementiaSemantic proximity Read ↗

UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis.Semantic proximity Read ↗

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