Autosomal recessive, DYT2-like primary torsion dystonia: a new family.

Autosomal recessive, DYT2-like primary torsion dystonia: a new family.

Item
http://www.wikidata.org/entity/Q30886748
Early onset torsion dystonia (Oppenheim's dystonia)Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystoniaThe role of mutations in COL6A3 in isolated dystonia.Genetic and clinical features of primary torsion dystonia.Mutations in HPCA cause autosomal-recessive primary isolated dystoniaRecessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples.Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature.The genetics of dystonias.Milestones in dystonia.Review: genetics and neuropathology of primary pure dystonia.Genetic issues in the diagnosis of dystonias.The genetics of dystonia: new twists in an old tale.DYT2 revealed: Hippocalcin mutations cause autosomal-recessive isolated dystonia.Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing.Epidemiological, clinical and genetic aspects of adult onset isolated focal dystonia in Ireland.The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27).
P2860

Autosomal recessive, DYT2-like primary torsion dystonia: a new family.

Item
http://www.wikidata.org/entity/Q30886748
description
2003 nî lūn-bûn
@nan
2003 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Autosomal recessive, DYT2-like primary torsion dystonia: a new family.
@ast
Autosomal recessive, DYT2-like primary torsion dystonia: a new family.
@en
type
label
Autosomal recessive, DYT2-like primary torsion dystonia: a new family.
@ast
Autosomal recessive, DYT2-like primary torsion dystonia: a new family.
@en
prefLabel
Autosomal recessive, DYT2-like primary torsion dystonia: a new family.
@ast
Autosomal recessive, DYT2-like primary torsion dystonia: a new family.
@en
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
Autosomal recessive, DYT2-like primary torsion dystonia: a new family.
@en
P2093
P304
P31
P356
10.1212/01.WNL.0000099076.17187.9A
P407
P433
P478
P50
P577
P698