Clinical spectrum of valosin containing protein (VCP)-opathy (scientific article)

Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia

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Hereditary inclusion body myopathy-linked p97/VCP mutations in the NH2 domain and the D1 ring modulate p97/VCP ATPase activity and D2 ring conformation

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Emerging functions of the VCP/p97 AAA-ATPase in the ubiquitin system

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Altered cofactor regulation with disease-associated p97/VCP mutations

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Valosin-containing protein and the pathogenesis of frontotemporal dementia associated with inclusion body myopathy

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Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

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VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder

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Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia

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Phenotypic variability in three families with valosin-containing protein mutation.

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AAEM minimonograph #11: Needle examination in clinical electromyography

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Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia

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The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis.

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Characterization of the Asian myopathy patients with VCP mutations

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In vitro studies in VCP-associated multisystem proteinopathy suggest altered mitochondrial bioenergetics

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Hereditary spastic paraplegia caused by a mutation in the VCP gene

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Pathological consequences of VCP mutations on human striated muscle

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Valosin-containing protein gene mutations: clinical and neuropathologic features

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Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.

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A novel VCP mutation underlies scapuloperoneal muscular dystrophy and dropped head syndrome featuring lobulated fibers.

Q53050086

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia.

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An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene.

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Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene

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P433

issue

P304

page(s)

94-99

P577

publication date

2015-11-17

P1433

published in

Muscle and Nerve

Q15764281

P1476

title

Clinical spectrum of valosin containing protein (VCP)-opathy

P478

volume

Reverse relations

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