Varaico: Literature-Extracted Genetic Variants

Gene:ATXN2
Variant:p.Q18L
Back to variants list

ATXN2

NM_001372574.1:p.Q18L

Associated Papers

Clinical Trial-Ready Patient Cohorts for Multiple System Atrophy: Coupling Biospecimen and iPSC Banking to Longitudinal Deep-Phenotyping.

Ndayisaba A et al.

Cerebellum (london, England), 2024

TDP-43 impairs sleep in Drosophila through Ataxin-2-dependent metabolic disturbance.

Perlegos AE et al.

Science Advances, 2024

38198547 (PubMed )
Supplement: sciadv.adj4457_data_s1_to_s4.zip › adj4457_supplementary_data_1.xlsx › Sheet2

Mechanisms Associated with TDP-43 Neurotoxicity in ALS/FTLD.

Shenouda M et al.

Advances in Neurobiology, 2018

Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Schneider SA et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

Limelight on alpha-synuclein: pathological and mechanistic implications in neurodegeneration.

Wales P et al.

Journal of Parkinson's Disease, 2013

Anticipation of onset age in familial Parkinson's disease without SCA gene mutations.

Huang Y et al.

Parkinsonism & Related Disorders, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."