𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Autosomal dominant torsion dystonia with onset in infancy

✍ Scribed by Stewart H. Mostofsky; Peter A. Blasco; Ian J. Butler; William B. Dobyns

Book ID
117591636
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
973 KB
Volume
15
Category
Article
ISSN
0887-8994

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Laterality of onset in idiopathic torsio
Laterality of onset in idiopathic torsion dystonia
✍ Rivka Inzelberg; Nelly Ziber; Esther Kahana; Prof. Amos D. Korczyn πŸ“‚ Article πŸ“… 1993 πŸ› John Wiley and Sons 🌐 English βš– 378 KB

## Abstract Idiopathic torsion dystonia (ITD) is a dominantly inherited disorder with incomplete penetrance. It is important to identify factors that may cause dystonia or prevent its occurrence in a genetically predisposed individual. Because dystonia may be precipitated by peripheral triggers, we

Comparing endophenotypes in adult-onset
Comparing endophenotypes in adult-onset primary torsion dystonia
✍ David Bradley; Robert Whelan; Richard Walsh; John O'Dwyer; Richard Reilly; Siobh πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 113 KB

## Abstract Adult‐onset primary torsion dystonia (AOPTD) has an autosomal dominant pattern of inheritance with markedly reduced penetrance; the genetic causes of most forms of AOPTD remain unknown. Endophenotypes, markers of sub‐clinical gene carriage, may be of use detecting non‐manifesting gene c