Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families

2019/07/04 by Shumaila Zulfiqar, Muhammad Tariq, Zafar Ali +14 · 1 citation
Neuroscience · Medicine · #Hereditary Neurological Disorders #Neurological diseases and metabolism #Neurogenetic and Muscular Disorders Research

paper · doi:10.1016/j.jocn.2019.06.039

Citations

• Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis

Cited by

• Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56