Varaico: Literature-Extracted Genetic Variants

Gene:CHMP2B
Variant:p.M116I
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CHMP2B

NM_014043.4:p.M116I

Associated Papers

Synaptopathy: presynaptic convergence in frontotemporal dementia and amyotrophic lateral sclerosis.

Clayton EL et al.

Brain : a Journal of Neurology, 2024

The converging roles of sequestosome-1/p62 in the molecular pathways of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

Davidson JM et al.

Neurobiology of Disease, 2022

Autophagy and ALS: mechanistic insights and therapeutic implications.

Chua JP et al.

Autophagy, 2022

Disrupted neuronal trafficking in amyotrophic lateral sclerosis.

Burk K et al.

Acta Neuropathologica, 2019

Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology.

Ince PG et al.

Acta Neuropathologica, 2011

Progranulin and TDP-43: mechanistic links and future directions.

Kumar-Singh S

Journal of Molecular Neuroscience : Mn, 2011

FTD and ALS: a tale of two diseases.

Ferrari R et al.

Current Alzheimer Research, 2011

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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."