title: Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK.
authors.affiliation: Department of Neurology, Hospital de la Santa Creu i Sant Pau, and Universitat Autónoma de Barcelona, Barcelona, Spain.
authors.forename: S
authors.initials: S
authors.lastname: Figueroa-Bonaparte
authors.affiliation: The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: J
authors.initials: J
authors.lastname: Hudson
authors.affiliation: The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK Rare Diseases Advisory Group Service for Neuromuscular Diseases, Muscle Immunoanalysis Unit, Dental Hospital, Newcastle upon Tyne, UK.
authors.forename: R
authors.initials: R
authors.lastname: Barresi
authors.affiliation: Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: T
authors.initials: T
authors.lastname: Polvikoski
authors.affiliation: Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.
authors.forename: T
authors.initials: T
authors.lastname: Williams
authors.affiliation: The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: A
authors.initials: A
authors.lastname: Töpf
authors.affiliation: The John Walton Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: E
authors.initials: E
authors.lastname: Harris
authors.affiliation: Department of Neurology, John Radcliffe Hospital, Oxford, UK.
authors.forename: D
authors.initials: D
authors.lastname: Hilton-Jones
authors.affiliation: Department of Neurology, Southern General Hospital, Glasgow, UK.
authors.forename: R
authors.initials: R
authors.lastname: Petty
authors.affiliation: The Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, UK.
authors.forename: T A
authors.initials: TA
authors.lastname: Willis
authors.affiliation: West of Scotland Regional Genetics Service, Southern General Hospital, Glasgow, UK.
authors.forename: C
authors.initials: C
authors.lastname: Longman
authors.affiliation: The Walton Centre for Neurology and Neurosurgery, Liverpool, UK.
authors.forename: C F
authors.initials: CF
authors.lastname: Dougan
authors.affiliation: UCL MRC Centre for Neuromuscular Disease, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen- Square, London, UK.
authors.forename: M J
authors.initials: MJ
authors.lastname: Parton
authors.affiliation: MRC Centre for Neuromuscular Disease and National Hospital for Neurology and Neurosurgery, London, UK.
authors.forename: M G
authors.initials: MG
authors.lastname: Hanna
authors.affiliation: UCL MRC Centre for Neuromuscular Disease, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen- Square, London, UK.
authors.forename: R
authors.initials: R
authors.lastname: Quinlivan
authors.affiliation: Department of Neurology, Southern General Hospital, Glasgow, UK.
authors.forename: M E
authors.initials: ME
authors.lastname: Farrugia
authors.affiliation: The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: M
authors.initials: M
authors.lastname: Guglieri
authors.affiliation: The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: K
authors.initials: K
authors.lastname: Bushby
authors.affiliation: The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: V
authors.initials: V
authors.lastname: Straub
authors.affiliation: The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: H
authors.initials: H
authors.lastname: Lochmüller
authors.affiliation: The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: T
authors.initials: T
authors.lastname: Evangelista
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D000073537:Biological Variation, Population / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D049310:Distal Myopathies / Q000453:epidemiology*; D005260:Female; D057180:Frontotemporal Dementia / Q000453:epidemiology*; D006801:Humans; D008297:Male; D010641:Phenotype; D006113:United Kingdom; D000074405:Valosin Containing Protein
chemical_list: D018797:Cell Cycle Proteins; D000251:Adenosine Triphosphatases; D000074405:Valosin Containing Protein
keywords: CLINICAL NEUROLOGY; DEMENTIA; MOLECULAR BIOLOGY; MOTOR NEURON DISEASE; NEUROMUSCULAR