ADCY5-related dyskinesia : Broader spectrum and genotype-phenotype correlations

Neurology

Volumn 85, Issue 23, 2015, Pages 2026-2035

  Chen, Dong Hui ^a   Méneret, Aurélie ^b   Friedman, Jennifer R ^a,c,d,n   Korvatska, Olena ^a   Gad, Alona ^a,e   Bonkowski, Emily S ^a   Stessman, Holly A ^a   Doummar, Diane ^f   Mignot, Cyril ^f   Anheim, Mathieu ^g   Bernes, Saunder ^h   Davis, Marie Y ^a   Damon Perrière, Nathalie ⁱ   Degos, Bertrand ^a   Grabli, David ^a,b,c   Gras, Domitille ⁱ   Hisama, Fuki M ^a   MacKenzie, Katherine M ^j   Swanson, Phillip D ^a   Tranchant, Christine ^g   Vidailhet, Marie ^b,c   Winesett, Steven ^k   Trouillard, Oriane ^b,c   Amendola, Laura M ^a   Dorschner, Michael O ^a   Weiss, Michael ^a   Eichler, Evan E ^a   Torkamani, Ali ^l   Roze, Emmanuel ^b,c   Bird, Thomas D ^m   Raskind, Wendy H ^a   more..

^a UNIVERSITY OF WASHINGTON   (United States)

^b INSERM   (France)

^c INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^f ARMAND TROUSSEAU HOSPITAL   (France)

^g UNIVERSITÉ DE STRASBOURG   (France)

^h PHOENIX CHILDREN'S HOSPITAL   (United States)

ⁱ BORDEAUX UNIVERSITY HOSPITAL   (France)

^j STANFORD UNIVERSITY   (United States)

^k JOHNS HOPKINS ALL CHILDREN S HOSPITAL   (United States)

^l SCRIPPS HEALTH   (United States)

^m GRECC   (United States)

ⁿ RADY CHILDREN'S HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLATE CYCLASE; ADENYLATE CYCLASE 5; UNCLASSIFIED DRUG; ADENYLYL CYCLASE TYPE V;

ADOLESCENT; ADULT; ADULTHOOD; AGED; ALLELE; ARTICLE; BODY MOVEMENT; CHILD; CHILDHOOD; CHOREA; CLINICAL FEATURE; CYTOPLASM; DISEASE EXACERBATION; DISEASE SEVERITY; DYSKINESIA; DYSTONIA; EXOME; FACE DISORDER; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HAND DISEASE; HUMAN; HYPERKINESIA; MAJOR CLINICAL STUDY; MALE; MOSAICISM; MOTOR DYSFUNCTION; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; MYOCLONUS; ONSET AGE; PAIN; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD; YOUNG ADULT; CASE REPORT; DYSKINESIAS; GENETICS; GENOTYPE; MIDDLE AGED; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; VERY ELDERLY;

ADENYLYL CYCLASES; ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; DYSKINESIAS; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 84949488896     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000002058     Document Type: Article

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