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
Case report: Frontotemporal dementia and amyotrophic lateral sclerosis caused by a missense variant (p.Arg89Trp) in the valosin-containing protein gene.
Miura S et al.
Frontiers in Genetics, 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
Genetics of frontotemporal dementia in China.
Jiang Y et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021
Rare Inherited forms of Paget's Disease and Related Syndromes.
Ralston SH et al.
Calcified Tissue International, 2019
The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice?
Clemen CS et al.
Biochemical and Biophysical Research Communications, 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
Time Course of Radiological Imaging and Variable Interindividual Symptoms in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Associated with p.Arg487His Mutation in the VCP Gene.
Hirano M et al.
European Neurology, 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
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 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
[Inclusion body myositis, Paget's disease of the bone and frontotemporal dementia: early involvement of the heart and respiratory muscles].
Ponfick M et al.
Fortschritte Der Neurologie-psychiatrie, 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
Axonal hyperpolarization in inclusion-body myopathy, Paget disease of the bone, and frontotemporal dementia (IBMPFD).
Kumar KR et al.
Muscle & Nerve, 2011
Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings.
Kumar KR et al.
Neuromuscular Disorders : Nmd, 2010