Associated Papers
Aberrant nuclear pore complex degradation contributes to neurodegeneration in VCP disease.
Dubey SK et al.
Neuron, 2025
Neuromuscular disorders with evidence of both neuropathic and myopathic phenotype.
Laurini C et al.
Brain : a Journal of Neurology, 2025
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
Validity and Reliability of Clinical and Patient-Reported Outcomes in Multisystem Proteinopathy 1.
Alfano LN et al.
Annals of Clinical and Translational Neurology, 2025
Utilization of CoRDS registry to monitor quality of life in patients with VCP multisystem proteinopathy.
Abdoalsadig E et al.
Orphanet Journal of Rare Diseases, 2025
Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.
Rudaks LI et al.
Annals of Clinical and Translational Neurology, 2025
2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy.
Peck A et al.
Neurobiology of Disease, 2025
Genetic spectrum features and diagnostic accuracy of four plasma biomarkers in 248 Chinese patients with frontotemporal dementia.
Xu T et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1.
Robinson SE et al.
Neurology. Genetics, 2024
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
Valosin-Containing Protein (VCP): A Review of Its Diverse Molecular Functions and Clinical Phenotypes.
Pontifex CS et al.
International Journal of Molecular Sciences, 2024
Remote respiratory resistance exercise training improves respiratory function in individuals with VCP multisystem proteinopathy.
Halseth M et al.
Neuromuscular Disorders : Nmd, 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
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
Sex influences clinical phenotype in valosin-containing protein mutations: A case family report and systematic literature review.
Leccese D et al.
Clinical Neurology and Neurosurgery, 2023
Valosin containing protein (VCP): initiator, modifier, and potential drug target for neurodegenerative diseases.
Chu S et al.
Molecular Neurodegeneration, 2023
Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy.
Roy B et al.
Annals of Clinical and Translational Neurology, 2023
Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1.
Columbres RCA et al.
Genes, 2023
Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.
Ishorst N et al.
Molecular Genetics & Genomic Medicine, 2023
Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy.
Shmara A et al.
Neurology. Genetics, 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
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Schiava M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2022
The Cure VCP Scientific Conference 2021: Molecular and clinical insights into neurodegeneration and myopathy linked to multisystem proteinopathy-1 (MSP-1).
Johnson MA et al.
Neurobiology of Disease, 2022
Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis.
Pfeffer G et al.
Genes, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.
Liu T et al.
Nature Communications, 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 Role of VCP Mutations in the Spectrum of Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.
Scarian E et al.
Frontiers in Neurology, 2022
The role of genetics in neurodegenerative dementia: a large cohort study in South China.
Jiao B et al.
Npj Genomic Medicine, 2021
Genetics of frontotemporal dementia in China.
Jiang Y et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021
Ataxia and Parkinsonism in a Woman With a VCP Variant and Long-Normal Repeats in the SCA2 Allele.
Kirby AE et al.
Neurology. Genetics, 2021
CRISPR/Cas9-engineered Drosophila knock-in models to study VCP diseases.
Wall JM et al.
Disease Models & Mechanisms, 2021
Multisystem proteinopathy: Where myopathy and motor neuron disease converge.
Korb MK et al.
Muscle & Nerve, 2021
Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia.
Sassi C et al.
Scientific Reports, 2021
NAD+ boosting reduces age-associated amyloidosis and restores mitochondrial homeostasis in muscle.
Romani M et al.
Cell Reports, 2021
Spastic Paraplegia with Paget's Disease of Bone due to a VCP Gene Mutation.
Nakamura T et al.
Internal Medicine (tokyo, Japan), 2021
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
Phenotypic diversity in an international Cure VCP Disease registry.
Ikenaga C et al.
Orphanet Journal of Rare Diseases, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Sporadic Inclusion Body Myositis and Other Rimmed Vacuolar Myopathies.
Weihl CC
Continuum (minneapolis, Minn.), 2019
Rare Inherited forms of Paget's Disease and Related Syndromes.
Ralston SH et al.
Calcified Tissue International, 2019
A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene.
Plewa J et al.
Neuromuscular Disorders : Nmd, 2018