SCOPUS 정보 검색 플랫폼

Volumn 2, Issue 3, 2016, Pages

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia

(17) Masuho, Ikuo a Fang, Mingyan b,c Geng, Chunyu c Zhang, Jianguo b,c Jiang, Hui c Özgul, Riza Köksal d Yilmaz, Didem Yücel d Yalnizoǧlu, Dilek d Yüksel, Deniz e Yarrow, Anna f Myers, Angela f Burn, Sabrina C f Crotwell, Patricia L f Padilla Lopez, Sergio g,h Dursun, Ali d Martemyanov, Kirill A a Kruer, Michael C g,h,i

a SCRIPPS RESEARCH INSTITUTE (United States)

b Shenzhen Key Lab of Neurogenomics (China)

c BGI SHENZHEN (China)

d HACETTEPE UNIVERSITY (Turkey)

e MINISTRY OF HEALTH (Turkey)

f Sanford Children's Health Research Center (United States)

g UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE (United States)

h PHOENIX CHILDREN'S HOSPITAL (United States)

i ARIZONA STATE UNIVERSITY (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GNAL PROTEIN; GUANINE NUCLEOTIDE BINDING PROTEIN; UNCLASSIFIED DRUG;

CASE REPORT; CHILD; CHILDHOOD DISEASE; DISEASE EXACERBATION; FAMILY; FEMALE; GENE MUTATION; GENERALIZED DYSTONIA; GENETIC ASSOCIATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INTELLECTUAL IMPAIRMENT; MISSENSE MUTATION; MUSCLE HYPERTONIA; MUSCLE SPASM; NEUROIMAGING; NOTE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PRENATAL EXPOSURE; PRIORITY JOURNAL;

EID: 85041889772 PISSN: None EISSN: 23767839 Source Type: Journal
DOI: 10.1212/NXG.0000000000000078 Document Type: Note

Times cited : (29)

References (6)

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2
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- Recessive mutations in the a3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.