Associated Papers
Genetic contributions to Alzheimer's disease and frontotemporal dementia in admixed Latin American populations.
Acosta-Uribe J et al.
Npj Dementia, 2026
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 Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.
Acosta-Uribe J et al.
Research Square, 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 Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.
Acosta-Uribe J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS.
Chatterjee M et al.
Nature Medicine, 2024
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
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
Valosin containing protein (VCP): initiator, modifier, and potential drug target for neurodegenerative diseases.
Chu S et al.
Molecular Neurodegeneration, 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
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in 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
The Role of VCP Mutations in the Spectrum of Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.
Scarian E et al.
Frontiers in Neurology, 2022
Frequency of frontotemporal dementia-related gene variants in Turkey.
Artan S et al.
Neurobiology of Aging, 2021
The role of genetics in neurodegenerative dementia: a large cohort study in South China.
Jiao B et al.
Npj Genomic Medicine, 2021
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Senderek J et al.
Neurology, 2020
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
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.
Tunca C et al.
Human Mutation, 2020
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
Hot-spot KIF5A mutations cause familial ALS.
Brenner D et al.
Brain : a Journal of Neurology, 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
A unique IBMPFD-related P97/VCP mutation with differential binding pattern and subcellular localization.
Erzurumlu Y et al.
The International Journal of Biochemistry & Cell Biology, 2013
[A case of inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD) showing clinical features of motor neuron disease].
Igari R et al.
Rinsho Shinkeigaku = Clinical Neurology, 2013
Psychiatric Presentation of Frontotemporal Dementia Associated with Inclusion Body Myopathy due to the VCP Mutation (R155H) in a French Family.
Jacquin A et al.
Case Reports in Neurology, 2013
Structural and functional deviations in disease-associated p97 mutants.
Tang WK et al.
Journal of Structural Biology, 2012
Rescue of growth defects of yeast cdc48 mutants by pathogenic IBMPFD-VCPs.
Takata T et al.
Journal of Structural Biology, 2012
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
A novel exon 2 I27V VCP variant is associated with dissimilar clinical syndromes.
Rohrer JD et al.
Journal of Neurology, 2011
Valosin containing protein associated fronto-temporal lobar degeneration: clinical presentation, pathologic features and pathogenesis.
Weihl CC
Current Alzheimer Research, 2011
Exome sequencing reveals VCP mutations as a cause of familial ALS.
Johnson JO et al.
Neuron, 2010
Enhanced ATPase activities as a primary defect of mutant valosin-containing proteins that cause inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.
Manno A et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2010
Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy.
Ju JS et al.
Human Molecular Genetics, 2010
VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder.
Kimonis VE et al.
Biochimica Et Biophysica Acta, 2008