Associated Papers
The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.
Cogan G et al.
Brain : a Journal of Neurology, 2025
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
In-vivo evidence of synucleinopathy in parkinsonism due to VCP mutation.
Bonan L et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2025
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy.
Schiava M et al.
Neurology. Genetics, 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
Targeting mitophagy in neurodegenerative diseases.
Antico O et al.
Nature Reviews. Drug Discovery, 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
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
Focal epilepsy followed by rapidly progressive frontotemporal dementia: a rare manifestation of VCP mutation.
Carlucci V et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2024
Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1.
Robinson SE et al.
Neurology. Genetics, 2024
Remote respiratory resistance exercise training improves respiratory function in individuals with VCP multisystem proteinopathy.
Halseth M et al.
Neuromuscular Disorders : Nmd, 2024
Amplifying the Heat Shock Response Ameliorates ALS and FTD Pathology in Mouse and Human Models.
Ahmed M et al.
Molecular Neurobiology, 2023
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
Mah-Som AY et al.
American Journal of Human Genetics, 2023
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.
Schiava M et al.
Neurology. Genetics, 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
The Cdc48 N-terminal domain has a molecular switch that mediates the Npl4-Ufd1-Cdc48 complex formation.
Oppenheim T et al.
Structure (london, England : 1993), 2023
Multisystem proteinopathies (MSPs) and MSP-like disorders: Clinical-pathological-molecular spectrum.
Chompoopong P 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
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
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
Case report of a family with hereditary inclusion body myopathy with VCP gene variant and literature review.
Asadauskaitė G et al.
Frontiers in Neurology, 2023
Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy.
Ogasawara M et al.
Acta Neuropathologica Communications, 2022
FYCO1 Increase and Effect of Arimoclomol-Treatment in Human VCP-Pathology.
Guettsches AK et al.
Biomedicines, 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
Valosin Containing Protein (VCP): A Multistep Regulator of Autophagy.
Ferrari V et al.
International Journal of Molecular Sciences, 2022
VCP/p97 inhibitor CB-5083 modulates muscle pathology in a mouse model of VCP inclusion body myopathy.
Cheng C et al.
Journal of Translational Medicine, 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
Investigating the Genetic Profile of the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (ALS-FTD) Continuum in Patients of Diverse Race, Ethnicity and Ancestry.
Mesaros M et al.
Genes, 2021
The clinical spectrum of multisystem proteinopathy: Data from a neurodegenerative cohort.
Vacchiano V et al.
Journal of the Neurological Sciences, 2021
Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol.
Mega A et al.
Alzheimer's Research & Therapy, 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
Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms.
Pensato V et al.
Journal of Clinical Medicine, 2020
Rare Inherited forms of Paget's Disease and Related Syndromes.
Ralston SH et al.
Calcified Tissue International, 2019
Next Generation Sequencing Analysis in Early Onset Dementia Patients.
Bonvicini C et al.
Journal of Alzheimer's Disease : Jad, 2019
Novel VCP mutations expand the mutational spectrum of frontotemporal dementia.
Saracino D et al.
Neurobiology of Aging, 2018
The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice?
Clemen CS et al.
Biochemical and Biophysical Research Communications, 2018
[Inclusion Body Myopathy, Paget's Disease, and Fronto-temporal Dementia: a VCP-related Multi-systemic Proteinopathy].
Mengel D et al.
Fortschritte Der Neurologie-psychiatrie, 2018
Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing.
Bartoletti-Stella A et al.
Neurobiology of Aging, 2018
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
Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy.
Al-Obeidi E et al.
Clinical Genetics, 2018
Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy.
Inoue M et al.
Human Genome Variation, 2018