GNAL mutations and dystonia

JAMA Neurology

Volumn 71, Issue 8, 2014, Pages 1052-1053

  Erro, Roberto ^a,b   Bhatia, Kailash P ^a   Hardy, John ^c  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF VERONA   (Italy)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; DYSTONIA; EXON; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GERMANY; GNAL GENE; HUMAN; JAPAN; LETTER; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; SEGREGATION ANALYSIS; SERBIA; FEMALE; GENETICS; MALE; MUTATION; TORTICOLLIS;

GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT;

FEMALE; GTP-BINDING PROTEIN ALPHA SUBUNITS; HUMANS; MALE; MUTATION; TORTICOLLIS;

EID: 84905978568     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2014.1506     Document Type: Letter

References (5)

1. Kumar KR, Lohmann K, Masuho I, et al. Mutations in GNAL: a novel cause of craniocervical dystonia. JAMA Neurol. 2014;71(4):490-494.
2. Fuchs T, Saunders-Pullman R, Masuho I, et al. Mutations in GNAL cause primary torsion dystonia. Nat Genet. 2013;45(1):88-92.
3. Vemula SR, Puschmann A, Xiao J, et al. Role of Gα(olf) in familial and sporadic adult-onset primary dystonia. Hum Mol Genet. 2013;22(12):2510-2519.
4. Saunders-Pullman R, Fuchs T, San Luciano M, et al. Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites. Mov Disord. 2014;29(6):812-818.
5. Charlesworth G, Bhatia KP, Wood NW. No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia. Mov Disord. 2014;29(1):154-155.