Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis

Neuromuscular Disorders

Volumn 25, Issue 4, 2015, Pages 289-296

  Weihl, Conrad C ^a   Baloh, Robert H ^b   Lee, Youjin ^a   Chou, Tsui Fen ^c   Pittman, Sara K ^a   Lopate, Glenn ^a   Allred, Peggy ^b   Jockel Balsarotti, Jennifer ^a   Pestronk, Alan ^a   Harms, Matthew B ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CEDARS SINAI MEDICAL CENTER   (United States)

^c HARBOR UCLA MEDICAL CENTER   (United States)

Author keywords

Amyotrophic lateral sclerosis; Hereditary inclusion body myopathy; Inclusion body myositis; Myofibrillar myopathy; VCP

Indexed keywords

AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; ATPASE ACTIVITY ASSAY; AUTOPHAGY; C9ORF72 GENE; DEMENTIA; DISTAL MYOPATHY; DNA ISOLATION; EMERY DREIFUSS MUSCULAR DYSTROPHY; FAMILY HISTORY; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENE TARGETING; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC VARIABILITY; GNE GENE; HEXANUCLEOTIDE REPEAT ANALYSIS; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; IN VITRO STUDY; INCLUSION BODY MYOSITIS; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUSCLE WEAKNESS; MYOFIBRILLAR MYOPATHY; MYOPATHY; NEXT GENERATION SEQUENCING; NUCLEOTIDE REPEAT; PAGET BONE DISEASE; PRIORITY JOURNAL; SPORADIC INCLUSION BODY MYOSITIS; TARGETED NEXT GENERATION SEQUENCING; TISSUE CULTURE; VCP GENE; DNA SEQUENCE; GENETIC PREDISPOSITION; GENETICS; TUMOR CELL LINE;

ADENOSINE TRIPHOSPHATASE; C9ORF72 PROTEIN, HUMAN; CDC48 PROTEIN; CELL CYCLE PROTEIN; PROTEIN;

ADENOSINE TRIPHOSPHATASES; AGED; AMYOTROPHIC LATERAL SCLEROSIS; CELL CYCLE PROTEINS; CELL LINE, TUMOR; DEMENTIA; DISTAL MYOPATHIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; MALE; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MYOPATHIES, STRUCTURAL, CONGENITAL; MYOSITIS, INCLUSION BODY; PROTEINS; SEQUENCE ANALYSIS, DNA;

EID: 84925234233     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.12.009     Document Type: Article

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