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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 patients with familial and sporadic forms of ALS were screened for UBQLN1 gene mutations. Single nucleotide variants were...

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Source

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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