Varaico: Literature-Extracted Genetic Variants

Gene:CYLD
Variant:p.M719V
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CYLD

NM_001378743.1:p.M719V

Associated Papers

Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.

Yuan L et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants

CYLD in health and disease.

Marín-Rubio JL et al.

Disease Models & Mechanisms, 2023

Neural mechanism underlies CYLD modulation of morphology and synaptic function of medium spiny neurons in dorsolateral striatum.

Tan SY et al.

Frontiers in Molecular Neuroscience, 2023

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

CYLD variants identified in Alzheimer's disease and frontotemporal dementia patients.

Xiao X et al.

Annals of Clinical and Translational Neurology, 2022

Functional implication of ubiquitinating and deubiquitinating mechanisms in TDP-43 proteinopathies.

Tran NN et al.

Frontiers in Cell and Developmental Biology, 2022

Rapid in vitro quantification of TDP-43 and FUS mislocalisation for screening of gene variants implicated in frontotemporal dementia and amyotrophic lateral sclerosis.

Oyston LJ et al.

Scientific Reports, 2021

Reply: CYLD variants in frontotemporal dementia associated with severe memory impairment in a Portuguese cohort.

Oyston LJ et al.

Brain : a Journal of Neurology, 2020

CYLD variants in frontotemporal dementia associated with severe memory impairment in a Portuguese cohort.

Tábuas-Pereira M et al.

Brain : a Journal of Neurology, 2020

Genetic architecture of common non-Alzheimer's disease dementias.

Guerreiro R et al.

Neurobiology of Disease, 2020

Linear Ubiquitin Code: Its Writer, Erasers, Decoders, Inhibitors, and Implications in Disorders.

Oikawa D et al.

International Journal of Molecular Sciences, 2020

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.

Dobson-Stone C et al.

Brain : a Journal of Neurology, 2020

Immunity in amyotrophic lateral sclerosis: blurred lines between excessive inflammation and inefficient immune responses.

Béland LC et al.

Brain Communications, 2020

Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis.

Dobson-Stone C et al.

Acta Neuropathologica, 2013

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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."