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Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline MalformationSOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities.Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.[Genetic risk variants in Parkinson's disease and other movement disorders].Novel SGCE mutation (p.Glu65*) in a Japanese family with myoclonus-dystonia.Isolated focal dystonia phenotypes are associated with distinct patterns of altered microstructure
P2860
Q41962739-279C74BF-E205-4E88-B817-E593C0AD1759Q46647260-FE06C1BD-E902-487D-87F6-A086B8ED65C0Q47647686-929E56B6-A14B-44DA-9962-EC5801951400Q47711036-93035AD1-1417-44A2-B1CC-FA30D1299D1BQ50240011-DE76C045-21D0-48AC-926E-D3ED0204D186Q53163274-8A7CE309-F384-4D0A-96AC-73705D75CD1EQ57040383-CBDF20E1-BE2E-4D4D-AA9F-2672670DB8A1
P2860
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
2017年论文
@zh
2017年论文
@zh-cn
name
Update on the Genetics of Dystonia.
@en
Update on the Genetics of Dystonia.
@nl
type
label
Update on the Genetics of Dystonia.
@en
Update on the Genetics of Dystonia.
@nl
prefLabel
Update on the Genetics of Dystonia.
@en
Update on the Genetics of Dystonia.
@nl
P2860
P1476
Update on the Genetics of Dystonia.
@en
P2093
Christine Klein
Katja Lohmann
P2860
P2888
P356
10.1007/S11910-017-0735-0
P577
2017-03-01T00:00:00Z