Three VCP Mutations in Patients with Frontotemporal Dementia

Population-specific genetic variation in large sequencing data sets: why more data is still better

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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

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(2016) Monkol Lek et al.   NATURE

A general framework for estimating the relative pathogenicity of human genetic variants

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Whole-genome sequence variation, population structure and demographic history of the Dutch population

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Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant

(2014) Takashi Ayaki et al.   Acta Neuropathologica Communications

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

(2012) SG Mehta et al.   CLINICAL GENETICS

Phenotypic variability in three families withvalosin-containing proteinmutation

(2012) S. Spina et al.   EUROPEAN JOURNAL OF NEUROLOGY

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

(2012) Hemmo Meyer et al.   NATURE CELL BIOLOGY

A harmonized classification system for FTLD-TDP pathology

(2011) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

National Institute on Aging–Alzheimer’s Association guidelines for the neuropathologic assessment of Alzheimer’s disease: a practical approach

(2011) Thomas J. Montine et al.   ACTA NEUROPATHOLOGICA

Recent advances in p97/VCP/Cdc48 cellular functions

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Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

(2011) Katya Rascovsky et al.   BRAIN

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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The Sequence Alignment/Map format and SAMtools

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Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His

(2009) J. van der Zee et al.   NEUROLOGY

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

(2008) Virginia. E. Kimonis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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