Associated Papers
A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant.
Watanabe K et al.
Journal of Human Genetics, 2025
A meta-analysis of genetic variant pathogenicity and sex differences in UBQLN2-linked amyotrophic lateral sclerosis and frontotemporal dementia.
Thumbadoo KM et al.
Neurobiology of Disease, 2025
First case of an UBQLN2 gene mutation causing frontotemporal dementia preceded by adult onset psychiatric symptoms.
Raggi A et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020
Key role of UBQLN2 in pathogenesis of amyotrophic lateral sclerosis and frontotemporal dementia.
Renaud L et al.
Acta Neuropathologica Communications, 2019
Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype.
Synofzik M et al.
Neurobiology of Aging, 2012
Unraveling the multifaceted insights into amyotrophic lateral sclerosis: Genetic underpinnings, pathogenesis, and therapeutic horizons.
Sharma R et al.
Mutation Research. Reviews in Mutation Research, 0
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