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

American Journal of Medical Genetics, Part A

Volumn 146, Issue 6, 2008, Pages 745-757

  Kimonis, Virginia E ^a,h   Mehta, Sarju G ^a   Fulchiero, Erin C ^a   Thomasova, Dana ^a   Pasquali, Marzia ^b   Boycott, Kym ^c   Neilan, Edward G ^a   Kartashov, Alex ^a   Forman, Mark S ^d   Tucker, Stuart ^e   Kimonis, Katerina ^a   Mumm, Steven ^f   Whyte, Michael P ^f   Smith, Charles D ^g   Watts, Giles D J ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF CALGARY   (Canada)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

^e LEVINE CANCER INSTITUTE   (United States)

^f BARNES JEWISH HOSPITAL   (United States)

^g UNIVERSITY OF KENTUCKY   (United States)

^h UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Autosomal dominant; Chromosome 9p13.3 12; Frontotemporal dementia; Hereditary inclusion body myopathy; Limb girdle muscular dystrophy; Paget disease of bone; VCP (valosin containing protein)

Indexed keywords

ALKALINE PHOSPHATASE; PROTEIN P97; UBIQUITIN; VALOSIN CONTAINING PROTEIN;

ADULT; AGED; ALZHEIMER DISEASE; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL VACUOLE; CLINICAL ARTICLE; DIAGNOSTIC ERROR; DISTAL MYOPATHY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY SPINAL MUSCULAR ATROPHY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INCLUSION BODY MYOSITIS; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MUSCLE BIOPSY; PAGET BONE DISEASE; PRIORITY JOURNAL;

ADENOSINE TRIPHOSPHATASES; ADULT; CELL CYCLE PROTEINS; CROSS-SECTIONAL STUDIES; DEMENTIA; FAMILY; FEMALE; HUMANS; INCLUSION BODIES; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DISEASES; OSTEITIS DEFORMANS; PEDIGREE; RETROSPECTIVE STUDIES;

EID: 40449133507     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31862     Document Type: Article

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