Visuospatial memory was studied in patients suffering from senile dementia of the Alzheimer type (SDAT). They had been allocated into one of two groups depending on the severity of their disorder (mild or moderate), and a control group of healthy elderly subjects was included. Three different microc
Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?
✍ Scribed by Amets Sáenz; Yasuko Ono; Hiroyuki Sorimachi; Maria Goicoechea; France Leturcq; Lorea Blázquez; Federico García-Bragado; Alberto Marina; Juan José Poza; Margarita Azpitarte; Naoko Doi; Miguel Urtasun; Jean-Claude Kaplan; Adolfo López De Munain
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 251 KB
- Volume
- 44
- Category
- Article
- ISSN
- 0148-639X
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Homocystinuria due to cystathionine b-synthase (CBS) deficiency is frequently caused by missense mutations. In this article, we report four novel missense mutations in the CBS gene: 172C®T (R58W) linked in cis with A114V; 376A®G (M126V); 904G®A (E302K); and 1006C®T (R336C). The CBS activity of the c
Enthalpies of formation ∆H f °(g) of ketals prepared from ketals have also been determined experimentally and compared with values obtained from molecular mechanics cyclopropanone, cyclobutanone, cyclopentanone, cyclohexanone, and 7-norbornanone with methanol, ethylene calculations (MM3). The close