Abdulaziz S. Alsaman-Saman

Riyadh, 12231, Saudi Arabia

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 18 publications

Genetic, Clinical, and Management Characteristics of Duchenne Muscular Dystrophy in Saudi Arabia.

Genetic, Clinical, and Management Characteristics of Duchenne Muscular Dystrophy in Saudi Arabia.

Journal: Healthcare (Basel, Switzerland)

Published: January 15, 2026

Real-world evidence of Nusinersen treatment for patients with spinal muscular atrophy in the Kingdom of Saudi Arabia: Initial insights from the Saudi national spinal muscular atrophy program.

Real-world evidence of Nusinersen treatment for patients with spinal muscular atrophy in the Kingdom of Saudi Arabia: Initial insights from the Saudi national spinal muscular atrophy program.

Journal: Saudi medical journal

Published: June 18, 2025

Parkinsonism-dystonia-2: Case-series study from Saudi Arabia.

Parkinsonism-dystonia-2: Case-series study from Saudi Arabia.

Journal: Annals of clinical and translational neurology

Published: August 15, 2023

Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia.

Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia.

Journal: Pediatric neurology

Published: October 04, 2022

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.

Journal: Acta neuropathologica

Published: September 15, 2022

Patient demographics and characteristics from an ambispective, observational study of patients with duchenne muscular dystrophy in Saudi Arabia.

Patient demographics and characteristics from an ambispective, observational study of patients with duchenne muscular dystrophy in Saudi Arabia.

Journal: Frontiers in pediatrics

Published: August 15, 2022

FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.

FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.

Journal: Molecular genetics and metabolism

Published: June 22, 2018

Correction to: Expanding the genetic heterogeneity of intellectual disability.

Correction to: Expanding the genetic heterogeneity of intellectual disability.

Journal: Human genetics

Published: December 31, 2017

Expanding the genetic heterogeneity of intellectual disability.

Expanding the genetic heterogeneity of intellectual disability.

Journal: Human genetics

Published: July 10, 2017

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Journal: Human genetics

Published: May 30, 2017

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.

Journal: Molecular psychiatry

Published: March 04, 2016

Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.

Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.

Journal: Journal of neuropathology and experimental neurology

Published: April 09, 2014

Showing 1-12 of 18

Last Updated: 09/26/2026