Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease

Neurology

Volumn 78, Issue 11, 2012, Pages 803-810

  Miyatake, S ^a   Miyake, N ^a   Touho, H ^b   Nishimura Tadaki, A ^a   Kondo, Y ^a   Okada, I ^a   Tsurusaki, Y ^a   Doi, H ^a   Sakai, H ^a   Saitsu, H ^a   Shimojima, K ^c   Yamamoto, T ^c   Higurashi, M ^a   Kawahara, N ^a   Kawauchi, H ^d   Nagasaka, K ^d   Okamoto, N ^e   Mori, T ^f   Koyano, S ^a   Kuroiwa, Y ^a   Taguri, M ^g   Morita, S ^g   Matsubara, Y ^h   Kure, S ^h   Matsumoto, N ^a   more..

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b Touho Neurosurgical Clinic   (Japan)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^d Tone Chuo Hospital   (Japan)

^e RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^f Department of Rehabilitation Medicine   (Japan)

^g YOKOHAMA CITY UNIVERSITY MEDICAL CENTER   (Japan)

^h TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; BIOLOGICAL MARKER; RNF213 PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

ADOLESCENT; ADULT; ARTICLE; BRAIN INFARCTION; CHILD; CONTROLLED STUDY; FEMALE; GENE; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INCIDENCE; INFANT; MAJOR CLINICAL STUDY; MALE; MOYAMOYA DISEASE; POSTERIOR CEREBRAL ARTERY; PREDICTION; PRIORITY JOURNAL; PROGNOSIS; RNF213 GENE; EPILEPSY; FAMILY; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HOMOZYGOTE; INTELLECTUAL IMPAIRMENT; MIDDLE AGED; NEWBORN; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOLOGY; PHENOTYPE; PREDICTIVE VALUE; PRESCHOOL CHILD; PSYCHOLOGICAL ASPECT; SEXUAL DEVELOPMENT;

ADOLESCENT; ADULT; AGE OF ONSET; BIOLOGICAL MARKERS; CEREBRAL INFARCTION; CHILD; CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; EPILEPSY; FAMILY; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MALE; MIDDLE AGED; MOYAMOYA DISEASE; PHENOTYPE; POSTERIOR CEREBRAL ARTERY; PREDICTIVE VALUE OF TESTS; SEX CHARACTERISTICS; UBIQUITIN-PROTEIN LIGASES; YOUNG ADULT;

EID: 84859929899     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318249f71f     Document Type: Article

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