𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish–Mennonites

✍ Scribed by Rachel Saunders-Pullman; Deborah Raymond; Geetha Senthil; Patricia Kramer; Erin Ohmann; Amanda Deligtisch; Vicki Shanker; Paul Greene; Rowena Tabamo; Neng Huang; Michele Tagliati; Patricia Kavanagh; Jeannie Soto-Valencia; Patricia de Carvalho Aguiar; Neil Risch; Laurie Ozelius; Susan Bressman

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
159 KB
Volume
143A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

DYT6 dystonia: Review of the literature
DYT6 dystonia: Review of the literature and creation of the UMD locus-specific database (LSDB) for mutations in the THAP1 gene
✍ Arnaud Blanchard; Vuthy Ea; Agathe Roubertie; Mélanie Martin; Coline Coquart; Mi 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 258 KB

By family-based screening, first Fuchs and then many other authors showed that mutations in THAP1 (THAP [thanatos-associated protein] domain-containing, apoptosis-associated protein 1) account for a substantial proportion of familial, early-onset, nonfocal, primary dystonia cases (DYT6 dystonia). TH

Analysis of the ϵ-sarcoglycan gene in fa
Analysis of the ϵ-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity
✍ Enza-Maria Valente; Anjum Misbahuddin; Francesco Brancati; Mark R. Placzek; Barb 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 315 KB

## Abstract The ϵ‐sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus–dystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with aut

Association of ADHD with genetic variant
Association of ADHD with genetic variants in the 5′-region of the dopamine transporter gene: Evidence for allelic heterogeneity
✍ K.J. Brookes; X. Xu; R. Anney; B. Franke; K. Zhou; Wai Chen; T. Banaschewski; J. 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 72 KB 👁 2 views

## Abstract Multiple studies have reported an association between attention deficit hyperactivity disorder (ADHD) and the 10‐repeat allele of a variable number tandem repeat (VNTR) polymorphism in the 3′‐untranslated region (3′UTR) of the dopamine transporter gene (__DAT1__). Yet, recent meta‐analy