Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis
In this work, we review clinical features and genetic diagnosis of diseases caused by
mutations in the gene encoding valosin-containing protein (VCP/p97), the functionally …
mutations in the gene encoding valosin-containing protein (VCP/p97), the functionally …
Multisystem proteinopathy: where myopathy and motor neuron disease converge
Multisystem proteinopathy (MSP) is a pleiotropic group of inherited disorders that cause
neurodegeneration, myopathy, and bone disease, and share common pathophysiology …
neurodegeneration, myopathy, and bone disease, and share common pathophysiology …
Genotype‐phenotype study in patients with valosin‐containing protein mutations associated with multisystem proteinopathy
E Al‐Obeidi, S Al‐Tahan, A Surampalli… - Clinical …, 2018 - Wiley Online Library
Mutations in valosin‐containing protein (VCP), an ATPase involved in protein degradation
and autophagy, cause VCP disease, a progressive autosomal dominant adult onset …
and autophagy, cause VCP disease, a progressive autosomal dominant adult onset …
Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
M Schiava, C Ikenaga, RN Villar-Quiles… - Journal of Neurology …, 2022 - jnnp.bmj.com
Background Valosin-containing protein (VCP) disease, caused by mutations in the VCP
gene, results in myopathy, Paget's disease of bone (PBD) and frontotemporal dementia …
gene, results in myopathy, Paget's disease of bone (PBD) and frontotemporal dementia …
The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and …
A Nalbandian, S Donkervoort, E Dec… - Journal of Molecular …, 2011 - Springer
Inclusion body myopathy associated with Paget's disease of bone and frontotemporal
dementia (IBMPFD) is a progressive, fatal genetic disorder with variable penetrance …
dementia (IBMPFD) is a progressive, fatal genetic disorder with variable penetrance …
Frontotemporal dementia
J Deleon, BL Miller - Handbook of clinical neurology, 2018 - Elsevier
Frontotemporal dementia (FTD) is a neurodegenerative disorder characterized by
progressive changes in behavior, personality, and language with involvement of the frontal …
progressive changes in behavior, personality, and language with involvement of the frontal …
Genotype–phenotype studies of VCP‐associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia
SG Mehta, M Khare, R Ramani, GDJ Watts… - Clinical …, 2013 - Wiley Online Library
Valosin containing protein (VCP) disease associated with inclusion body myopathy, Paget
disease of the bone and frontotemporal dementia is a progressive autosomal dominant …
disease of the bone and frontotemporal dementia is a progressive autosomal dominant …
Motor neuron involvement in multisystem proteinopathy: implications for ALS
M Benatar, J Wuu, C Fernandez, CC Weihl, H Katzen… - Neurology, 2013 - AAN Enterprises
Objective: To explore the putative connection between inclusion body myopathy, Paget
disease, frontotemporal dementia (IBMPFD) and motor neuron disease (MND). Methods …
disease, frontotemporal dementia (IBMPFD) and motor neuron disease (MND). Methods …
Rapamycin and Chloroquine: The In Vitro and In Vivo Effects of Autophagy-Modifying Drugs Show Promising Results in Valosin Containing Protein Multisystem …
A Nalbandian, KJ Llewellyn, C Nguyen, PG Yazdi… - PLoS …, 2015 - journals.plos.org
Mutations in the valosin containing protein (VCP) gene cause hereditary Inclusion body
myopathy (hIBM) associated with Paget disease of bone (PDB), frontotemporal dementia …
myopathy (hIBM) associated with Paget disease of bone (PDB), frontotemporal dementia …
The Homozygote VCPR155H/R155H Mouse Model Exhibits Accelerated Human VCP-Associated Disease Pathology
A Nalbandian, KJ Llewellyn, M Kitazawa, HZ Yin… - 2012 - journals.plos.org
Valosin containing protein (VCP) mutations are the cause of hereditary inclusion body
myopathy, Paget's disease of bone, frontotemporal dementia (IBMPFD). VCP gene …
myopathy, Paget's disease of bone, frontotemporal dementia (IBMPFD). VCP gene …