𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings

✍ Scribed by A Trott; LB Jardim; HT Ludwig; JAM Saute; O Artigalás; C Kieling; HYC Wanderley; CRM Rieder; TL Monte; M Socal; I Alonso; A Ferro; T Carvalho; M Do Céu Moreira; P Mendonça; F Ferreirinha; I Silveira; J Sequeiros; R Giugliani; ML Saraiva-Pereira

Book ID
110888230
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
81 KB
Volume
70
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Clinical and genetic findings in Finnish
Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion
✍ Vesa Juvonen; Marja Hietala; Markku Päivärinta; Maria Rantamäki; Lauri Hakamies; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 352 KB 👁 1 views

Spinocerebellar ataxia 8 (SCA8) is caused by a CTG repeat expansion in an untranslated region of a recently cloned gene on 13q21. The pathogenic role of this trinucleotide repeat was evaluated by examining 154 Finnish ataxia patients and 448 controls. Expansions ranging from 100 to 675 repeats were