Varaico: Literature-Extracted Genetic Variants

Gene:PNO1
Variant:p.S128C
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PNO1

NM_020143.4:p.S128C

Associated Papers

Diving deep: zebrafish models in motor neuron degeneration research.

Garg V et al.

Frontiers in Neuroscience, 2024

TDP-43 dysregulation and neuromuscular junction disruption in amyotrophic lateral sclerosis.

Lépine S et al.

Translational Neurodegeneration, 2022

Specific RNA interactions promote TDP-43 multivalent phase separation and maintain liquid properties.

Grese ZR et al.

Embo Reports, 2021

From animal models to human disease: a genetic approach for personalized medicine in ALS.

Picher-Martel V et al.

Acta Neuropathologica Communications, 2016

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

Cozzolino M et al.

Antioxidants & Redox Signaling, 2012

Pathogenic TARDBP mutations in amyotrophic lateral sclerosis and frontotemporal dementia: disease-associated pathways.

Barmada SJ et al.

Reviews in the Neurosciences, 2010

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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."