Alghamdi, Abdulaziz

Top Publications

Top Publications Authored or Co-Authored by "Alghamdi, Abdulaziz"

• A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield

  Molecular Genetics and Metabolism, Volume 121, No. 2, Year 2017, Citations 60
• Developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep in Saudi Arabia: Electroclinical, etiologic, genetic, and outcome multicenter study

  Seizure, Volume 107, Year 2023, Citations 27
• Hereditary Hyperekplexia in Saudi Arabia

  Pediatric Neurology, Volume 134, Year 2022, Citations 21
• Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease

  European Journal of Medical Genetics, Volume 65, No. 8, Article 104537, Year 2022, Citations 18
• Nusinersen in spinal muscular atrophy: Respiratory outcomes at tertiary care centers

  Journal of Nature and Science of Medicine, Volume 3, No. 3, Year 2020, Citations 13