𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia

✍ Scribed by DS McCorquodale III; U Ozomaro; J Huang; G Montenegro; A Kushman; L Citrigno; J Price; F Speziani; MA Pericak-Vance; S Züchner


Book ID
110889104
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
578 KB
Volume
79
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Screening of patients with hereditary sp
✍ C. Proukakis; M. Auer-Grumbach; K. Wagner; P.A. Wilkinson; E. Reid; M.A. Patton; 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 31 KB 👁 1 views

Hereditary spastic paraplegia (HSP) is a heterogeneous condition characterised in its pure form by progressive lower limb spasticity. Mutations in SPG4 (encoding spastin) may be responsible for up to 40% of autosomal dominant (AD) cases. A cohort of 41 mostly pure HSP patients from Britain and Austr