Associated Papers
Targeting mitophagy in neurodegenerative diseases.
Antico O et al.
Nature Reviews. Drug Discovery, 2025
VCP/p97 UFMylation stabilizes BECN1 and facilitates the initiation of autophagy.
Wang Z et al.
Autophagy, 2024
Valosin containing protein (VCP): initiator, modifier, and potential drug target for neurodegenerative diseases.
Chu S et al.
Molecular Neurodegeneration, 2023
Genetic characterization of primary lateral sclerosis.
de Boer EMJ et al.
Journal of Neurology, 2023
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
VCP-related myopathy: a case series and a review of literature.
Iannibelli E et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 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
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
Phenotype of VCP Mutations in Chinese Amyotrophic Lateral Sclerosis Patients.
Feng SY et al.
Frontiers in Neurology, 2022
The NGS technology for the identification of genes associated with the ALS. A systematic review.
Pecoraro V et al.
European Journal of Clinical Investigation, 2020
Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias.
Mehta PR et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
Morgan S et al.
Brain : a Journal of Neurology, 2017
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
VCP mutations are not a major cause of familial amyotrophic lateral sclerosis in the UK.
Kwok CT et al.
Journal of the Neurological Sciences, 2015
[A patient with familial amyotrophic lateral sclerosis associated with a new valosin-containing protein (VCP) gene mutation].
Segawa M et al.
Rinsho Shinkeigaku = Clinical Neurology, 2015
Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis.
González-Pérez P et al.
Neurology, 2012
VCP mutations in familial and sporadic amyotrophic lateral sclerosis.
Koppers M et al.
Neurobiology of Aging, 2012