Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis

Journal of the Neurological Sciences

Volumn 284, Issue 1-2, 2009, Pages 69-71

  Kamada, Masaki ^a,b   Maruyama, Hirofumi ^a   Tanaka, Eiji ^a   Morino, Hiroyuki ^a   Wate, Reika ^c   Ito, Hidefumi ^d   Kusaka, Hirofumi ^c   Kawano, Yuji ^e   Miki, Tetsuro ^e   Nodera, Hiroyuki ^b   Izumi, Yuishin ^b   Kaji, Ryuji ^b   Kawakami, Hideshi ^a  

^a HIROSHIMA UNIVERSITY   (Japan)

^b TOKUSHIMA UNIVERSITY HOSPITAL   (Japan)

^c KANSAI MEDICAL UNIVERSITY   (Japan)

^d KYOTO UNIVERSITY HOSPITAL   (Japan)

^e EHIME UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

ALS; Amyotrophic lateral sclerosis; Familial; TARDBP mutation; TDP 43

Indexed keywords

TAR DNA BINDING PROTEIN;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CELL NUCLEUS; CHROMOSOME 1P; CONTROLLED STUDY; CYTOPLASM; FAMILIAL DISEASE; FRONTOTEMPORAL DEMENTIA; GENE; GENE MUTATION; HUMAN; JAPANESE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATION RATE; MUTATIONAL ANALYSIS; NEUROPATHOLOGY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; PROTEIN PROTEIN INTERACTION; PROTEIN TRANSPORT; TARDBP GENE;

ADULT; AGED; AGED, 80 AND OVER; AMYOTROPHIC LATERAL SCLEROSIS; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GENETIC TESTING; HUMANS; JAPAN; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHOSPHORYLATION; POINT MUTATION; PROTEIN PROCESSING, POST-TRANSLATIONAL; PROTEIN STRUCTURE, TERTIARY; PROTEIN TRANSPORT; SUPEROXIDE DISMUTASE;

EID: 67849106393     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2009.04.017     Document Type: Article

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