𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3

✍ Scribed by Sylvain Hanein; Alexandra Dürr; Pascale Ribai; Sylvie Forlani; Anne-Louise Leutenegger; Isabelle Nelson; Marie-Claude Babron; Nizar Elleuch; Christel Depienne; Céline Charon; Alexis Brice; Giovanni Stevanin


Publisher
Springer
Year
2007
Tongue
English
Weight
659 KB
Volume
122
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Novel locus for autosomal dominant pure
✍ Enza Maria Valente; Francesco Brancati; Viviana Caputo; Enrico Bertini; Clarice 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 93 KB 👁 2 views

Hereditary spastic paraplegia is a clinically and genetically heterogeneous disorder characterized by progressive spasticity of the lower limbs. Seven loci for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) have already been mapped on chromosomes 14q, 2p, 15q, 8p, 12q, 19q, and 2q. W

A novel locus for pure recessive heredit
✍ Inge A. Meijer; Patrick Cossette; Julie Roussel; Melanie Benard; Sylvie Toupin; 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 218 KB 👁 1 views

## Abstract The hereditary spastic paraplegias (HSPs) are a group of clinically and genetically heterogeneous disorders characterized by progressive lower‐limb spasticity. In this study, we performed linkage analysis on an autosomal recessive pure HSP family and mapped the disease to chromosome 10q

Novel mutations in the Atlastin gene (SP
✍ S.M. Sauter; W. Engel; L.M. Neumann; J. Kunze; J. Neesen 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 102 KB 👁 1 views

Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterised by progressive spasticity and hyperreflexia of the lower limbs. Autosomal dominant hereditary spastic paraplegia linked to the SPG3A locus on chromosome 14q11-2