Varaico: Literature-Extracted Genetic Variants

Gene:CHMP2B
Variant:p.T105T
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CHMP2B

NM_014043.4:p.T105T

Associated Papers

Structure, Function, Pathomechanisms and Targeting of TDP-43 in Neurodegeneration.

Zhang X et al.

Brain Research, 2026

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

Clayton EL et al.

Brain : a Journal of Neurology, 2024

Astrocytes: Dissecting Their Diverse Roles in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.

Valori CF et al.

Cells, 2023

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

Modelling amyotrophic lateral sclerosis in rodents.

Todd TW et al.

Nature Reviews. Neuroscience, 2022

Synaptic dysfunction in ALS and FTD: anatomical and molecular changes provide insights into mechanisms of disease.

Gelon PA et al.

Frontiers in Molecular Neuroscience, 2022

Disrupted neuronal trafficking in amyotrophic lateral sclerosis.

Burk K et al.

Acta Neuropathologica, 2019

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

Clinical and genetic basis of familial amyotrophic lateral sclerosis.

Souza PV et al.

Arquivos De Neuro-psiquiatria, 2015

Emerging mechanisms of molecular pathology in ALS.

Peters OM et al.

The Journal of Clinical Investigation, 2015

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

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."