Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.T128S
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NUP62

NM_016553.5:p.T128S

Associated Papers

Molecular Mechanisms Underlying TDP-43 Pathology in Cellular and Animal Models of ALS and FTLD.

Wood A et al.

International Journal of Molecular Sciences, 2021

The debated toxic role of aggregated TDP-43 in amyotrophic lateral sclerosis: a resolution in sight?

Hergesheimer RC et al.

Brain : a Journal of Neurology, 2019

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

Picher-Martel V et al.

Acta Neuropathologica Communications, 2016

Accelerated disease onset with stabilized familial amyotrophic lateral sclerosis (ALS)-linked mutant TDP-43 proteins.

Watanabe S et al.

The Journal of Biological Chemistry, 2013

Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations.

Ticozzi N et al.

Journal of Neurology, 2013

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

Cozzolino M et al.

Antioxidants & Redox Signaling, 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."