A novel exon 2 I27V VCP variant is associated with dissimilar clinical syndromes

Journal of Neurology

Volumn 258, Issue 8, 2011, Pages 1494-1496

  Rohrer, Jonathan D ^a   Warren, Jason D ^a   Reiman, David ^a   Uphill, James ^a   Beck, Jonathan ^a   Collinge, John ^a   Rossor, Martin N ^a   Isaacs, Adrian M ^a   Mead, Simon ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Frontotemporal dementia; Frontotemporal lobar degeneration; IBMPFD; Motor neurone disease; Valosin containing protein

Indexed keywords

ALKALINE PHOSPHATASE; C REACTIVE PROTEIN; LEVODOPA; VALOSIN CONTAINING PROTEIN;

ADULT; AGED; AKINESIA; ALKALINE PHOSPHATASE BLOOD LEVEL; APRAXIA; ARTICLE; BEHAVIOR DISORDER; BRAIN ATROPHY; BRAIN DAMAGE; CASE REPORT; DYSARTHRIA; EPISODIC MEMORY; ERYTHROCYTE SEDIMENTATION RATE; EXON; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HUMAN; INTELLIGENCE QUOTIENT; MALE; MUSCLE DISEASE; MYOCLONUS; NUCLEAR MAGNETIC RESONANCE IMAGING; PARANOIA; PRIORITY JOURNAL; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SPEECH DISORDER; TREMOR;

ADENOSINE TRIPHOSPHATASES; AGED; CELL CYCLE PROTEINS; DYSARTHRIA; EXONS; FEMALE; FRONTOTEMPORAL DEMENTIA; HUMANS; MALE; MIDDLE AGED; PHENOTYPE;

EID: 79961027888     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-5966-4     Document Type: Article

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