๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11)

โœ Scribed by C. Paisan-Ruiz; P. Nath; N. W. Wood; A. Singleton; H. Houlden


Book ID
111065599
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
421 KB
Volume
15
Category
Article
ISSN
1351-5101

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


A clinical, genetic, and biochemical cha
โœ Alessia Arnoldi; Alessandra Tonelli; Francesca Crippa; Gaetano Villani; Consigli ๐Ÿ“‚ Article ๐Ÿ“… 2008 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 471 KB ๐Ÿ‘ 1 views

Mutations in the SPG7 gene encoding a mitochondrial protein termed paraplegin, are responsible for a recessive form of hereditary spastic paraparesis. Only few studies have so far been performed in large groups of hereditary spastic paraplegia (HSP) patients to determine the frequency of SPG7 mutati

Different mutations in the same codon of
โœ Hodes, M.E.; Zimmerman, Andrew W.; Aydanian, Antonina; Naidu, Sakkubai; Miller, ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 37 KB ๐Ÿ‘ 2 views

## Pelizaeus -Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2) comprises a spectrum of diseases that range from severe to quite mild. The reasons for the variation in severity are not obvious, but suggested explanations include the extent of disruption of the transmembrane portion of the