𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia

✍ Scribed by Angela Magariello; Maria Muglia; Alessandra Patitucci; Carmine Ungaro; Rosalucia Mazzei; Anna Lia Gabriele; Teresa Sprovieri; Luigi Citrigno; Francesca Luisa Conforti; Maria Liguori; Antonio Gambardella; Francesco Bono; Tommaso Piccoli; Francesco Patti; Mario Zappia; Michelangelo Mancuso; Franco Iemolo; Aldo Quattrone


Book ID
119303578
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
699 KB
Volume
288
Category
Article
ISSN
0022-510X

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Mutation analysis of the spastin gene (S
✍ S. Sauter; B. Miterski; S. Klimpe; D. BΓΆnsch; L. SchΓΆls; A. Visbeck; T. Papke; H πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 166 KB πŸ‘ 1 views

Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. Autosomal dominant hereditary spastic paraplegia 4 linked to chromosome 2p (SPG4) is the most co

Screening of patients with hereditary sp
✍ C. Proukakis; M. Auer-Grumbach; K. Wagner; P.A. Wilkinson; E. Reid; M.A. Patton; πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 31 KB πŸ‘ 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