Publications by authors named "Fatema Alqallaf"
Article Synopsis
- - Spinal muscular atrophy is a genetic condition that leads to muscle weakness and atrophy, and nusinersen is a therapy approved for its treatment in both children and adults.
- - A clinical case series involving 20 pediatric and 18 adult patients in Kuwait was conducted to evaluate the effectiveness and safety of nusinersen, using various motor function assessments.
- - Results showed that about 70% of pediatric and 72% of adult patients experienced significant improvements in motor function, with the therapy being well-tolerated over a period extending beyond four years.
Article Synopsis
- Our understanding of genetic causes behind neurological disorders is still limited, prompting researchers to conduct whole-exome sequencing on 143 families where known disease genes were ruled out.
- They discovered 69 new recessive genes linked to these disorders, with detailed descriptions of 33 of them.
- The study also noted that in some cases, the observed symptoms did not match the typical presentations of known diseases, but they successfully identified likely causal mutations in over 73% of the cases examined.