Varaico: Literature-Extracted Genetic Variants

Gene:ATXN2
Variant:p.P525L
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ATXN2

NM_001372574.1: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

Blueprint of Collapse: Precision Biomarkers, Molecular Cascades, and the Engineered Decline of Fast-Progressing ALS.

Șerban M et al.

International Journal of Molecular Sciences, 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

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

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.

Cady J et al.

Annals of Neurology, 2015

Clinical neurogenetics: amyotrophic lateral sclerosis.

Harms MB et al.

Neurologic Clinics, 2013

Stress granules in neurodegeneration--lessons learnt from TAR DNA binding protein of 43 kDa and fused in sarcoma.

Bentmann E et al.

The Febs Journal, 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

RNA-binding proteins in neurodegenerative disease: TDP-43 and beyond.

Hanson KA et al.

Wiley Interdisciplinary Reviews. Rna, 0

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