Associated Papers
Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis.
Barel D et al.
Journal of Neurology, 2024
VCP mutations and parkinsonism: An emerging link.
Alshaikh JT et al.
Clinical Parkinsonism & Related Disorders, 2024
Valosin-containing-protein pathogenic variant p.R487H in Parkinson's disease.
Piat C et al.
Clinical Parkinsonism & Related Disorders, 2024
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
Mah-Som AY et al.
American Journal of Human Genetics, 2023
Valosin containing protein (VCP): initiator, modifier, and potential drug target for neurodegenerative diseases.
Chu S et al.
Molecular Neurodegeneration, 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
Rare Inherited forms of Paget's Disease and Related Syndromes.
Ralston SH et al.
Calcified Tissue International, 2019
Extra-motor abnormalities in amyotrophic lateral sclerosis: another layer of heterogeneity.
McCombe PA et al.
Expert Review of Neurotherapeutics, 2017
Identifying pathogenicity of human variants via paralog-based yeast complementation.
Yang F et al.
Plos Genetics, 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
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.
Gonzalez MA et al.
Brain : a Journal of Neurology, 2014
Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis.
González-Pérez P et al.
Neurology, 2012