Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN2
Variant:p.P525L
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UBQLN2

NM_013444.4:p.P525L

Associated Papers

Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.

Yuan L et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Clinical and genetic characteristics of 1672 cases of amyotrophic lateral sclerosis in China: a single-center retrospective study.

Shen D et al.

Journal of Neurology, 2024

Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.

Bagyinszky E et al.

Cells, 2023

Juvenile Amyotrophic Lateral Sclerosis: A Review.

Lehky T et al.

Genes, 2021

Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.

Tunca C et al.

Human Mutation, 2020

Genetics of Amyotrophic Lateral Sclerosis.

Ghasemi M et al.

Cold Spring Harbor Perspectives in Medicine, 2018

Clinical and experimental studies of a novel P525R FUS mutation in amyotrophic lateral sclerosis.

Kuang L et al.

Neurology. Genetics, 2017

Amyotrophic Lateral Sclerosis.

Brown RH et al.

The New England Journal of Medicine, 2017

Genetics of amyotrophic lateral sclerosis.

Corcia P et al.

Revue Neurologique, 2017

Delineating the relationship between amyotrophic lateral sclerosis and frontotemporal dementia: Sequence and structure-based predictions.

Kumar V et al.

Biochimica Et Biophysica Acta, 2016

Emerging mechanisms of molecular pathology in ALS.

Peters OM et al.

The Journal of Clinical Investigation, 2015

The distinct genetic pattern of ALS in Turkey and novel mutations.

Özoğuz A et al.

Neurobiology of Aging, 2015

Disease variants in genomes of 44 centenarians.

Freudenberg-Hua Y et al.

Molecular Genetics & Genomic Medicine, 2014

Clinical neurogenetics: amyotrophic lateral sclerosis.

Harms MB et al.

Neurologic Clinics, 2013

The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum.

Van Langenhove T et al.

Annals of Medicine, 2012

Amyotrophic lateral sclerosis: new insights into underlying molecular mechanisms and opportunities for therapeutic intervention.

Cozzolino M et al.

Antioxidants & Redox Signaling, 2012

FUS-related proteinopathies: lessons from animal models.

Lanson NA et al.

Brain Research, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."