Publications by authors named "Shahid Makhdoom"

Aim: Previous theory and research postulate that workaholism is one of the important factors that contribute to burnout. The present study aimed to analyze the role of psychological capital as a mediator between the two. Moreover, the study examined the moderating role in the stated mediated relationship.

View Article and Find Full Text PDF

Background & Objectives: Primary Microcephaly (MCPH) is a rare neurogenetic disease, manifesting congenitally reduced head circumference and non-progressive intellectual disability (ID). To date, twenty-eight genes with biallelic mutations have been reported for this disorder. The study aimed for molecular genetic characterization of Pakistani families segregating MCPH.

View Article and Find Full Text PDF
Article Synopsis
  • Hereditary Spastic Paraplegias (HSPs) are a group of disorders that cause progressive weakness and stiffness in the lower limbs, along with other neurological issues.
  • This study focused on two Pakistani families with HSP, using Whole Exome Sequencing to identify gene variants that may be causing the condition in affected family members.
  • In one family, a new variant in the CYP2U1 gene was linked to symptoms of SPG56, while a known variant in the SPG11 gene was associated with SPG11 symptoms in the other family, demonstrating the genetic complexity of HSPs and the effectiveness of WES for diagnosis.
View Article and Find Full Text PDF