Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.R95H
Back to variants list

VCP

NM_007126.5:p.R95H

Associated Papers

Valosin containing protein (VCP): initiator, modifier, and potential drug target for neurodegenerative diseases.

Chu S et al.

Molecular Neurodegeneration, 2023

Multisystem proteinopathies (MSPs) and MSP-like disorders: Clinical-pathological-molecular spectrum.

Chompoopong P et al.

Annals of Clinical and Translational Neurology, 2023

Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis.

Pfeffer G et al.

Genes, 2022

Valosin Containing Protein (VCP): A Multistep Regulator of Autophagy.

Ferrari V et al.

International Journal of Molecular Sciences, 2022

Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.

Koriath C et al.

Molecular Psychiatry, 2020

30279455 (PubMed )
Supplement: 41380_2018_224_MOESM1_ESM.docx

Rare Inherited forms of Paget's Disease and Related Syndromes.

Ralston SH et al.

Calcified Tissue International, 2019

A Brazilian family with inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia linked to the VCP pGly97Glu mutation.

Shinjo SK et al.

Clinical Rheumatology, 2018

One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia.

Abrahao A et al.

Journal of the Neurological Sciences, 2016

215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands.

Evangelista T et al.

Neuromuscular Disorders : Nmd, 2016

Mutations in the Human AAA+ Chaperone p97 and Related Diseases.

Tang WK et al.

Frontiers in Molecular Biosciences, 2016

Genetic advances in sporadic inclusion body myositis.

Gang Q et al.

Current Opinion in Rheumatology, 2015

Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis.

Weihl CC et al.

Neuromuscular Disorders : Nmd, 2015

A network of RNA and protein interactions in Fronto Temporal Dementia.

Fontana F et al.

Frontiers in Molecular Neuroscience, 2015

Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia.

Mehta SG et al.

Clinical Genetics, 2013

The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis.

Nalbandian A et al.

Journal of Molecular Neuroscience : Mn, 2011

VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death.

Gitcho MA et al.

The Journal of Biological Chemistry, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."