Publications by authors named "Mustafa Salih"

Claim this Profile
P
Potential of AON therapy targeting AASS: A promising molecular therapy for pyridoxine-dependent epilepsy.
Mustafa A Salih

Mol Ther Nucleic Acids· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.
Pritha Bisarad, Yung-Chun Wang, Peter T Skidmore, Carolina I Galaz-Montoya, Sara A Lewis, Mustafa A Salih

medRxiv· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The great loss of the pyramid of child health.
Mustafa Abdalla M Salih, Satti Abdelrahim Satti

Sudan J Paediatr· September 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Sodium Oxybate-Treated Familial Myoclonus-Dystonia Syndrome Due to Novel SGCE Variant.
Malak Ali Alghamdi, Muddathir H Hamad, Isra Alghamdi, Ghiada Alghamdi, Muneera Al-Jelaify, Mustafa A Salih

Am J Med Genet A· May 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Editorial: Consanguinity and rare genetic neurological diseases.
Suzanne Lesage, Mustafa A Salih

Front Neurol· February 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.
Efil Bayam, Peggy Tilly, Stephan C Collins, José Rivera Alvarez, Meghna Kannan, Mustafa A Salih

EMBO Mol Med· January 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Case report: Clinical and genetic characterization of a novel variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings.
Mustafa A Salih, Albandary AlBakheet, Rawan Almass, Ahlam A A Hamed, Ali AlOdaib

Front Psychiatry· December 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.
Ashraf Yahia, Ahlam A A Hamed, Inaam N Mohamed, Maha A Elseed, Mustafa A Salih

Eur J Hum Genet· October 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.
Mahmoud Koko, Maha A Elseed, Inaam N Mohammed, Ahlam A Hamed, Amal S I Abd Allah, Mustafa A Salih

Eur J Hum Genet· October 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.
Kyle P Flannery, Sylvia Safwat, Eli Matsell, Namarata Battula, Ahlam A A Hamed, Mustafa A Salih

Neurogenetics· October 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Effect of Air Pollutants Particulate Matter PM, PM, Carbon Monoxide (CO), Nitrogen Dioxide (NO), Sulfur Dioxide (SO), and Ozone (O) on Fractional Exhaled Nitric Oxide (FeNO).
Sultan Ayoub Meo, Mustafa A Salih, Joud Mohammed Alkhalifah, Abdulaziz Hassan Alsomali, Abdullah Abdulrahman Almushawah

Pak J Med Sci· September 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of -related disorders caused by missense changes.
Kyle P Flannery, Sylvia Safwat, Eli Matsell, Namarata Battula, Ahlam A A Hamed, Mustafa A Salih

medRxiv· May 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The grave loss for child health.
Mustafa Abdalla M Salih

Sudan J Paediatr· January 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Another grave loss for child health.
Mustafa Abdalla M Salih

Sudan J Paediatr· January 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The Meryon Lecture at the 24th annual meeting of the Meryon Society, St. Anne's College, Oxford, UK, 15th July 2022: Neuromuscular diseases in the Arab population.
Mustafa A Salih

Neuromuscul Disord· October 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Franziska Langhammer, Reza Maroofian, Rueda Badar, Anne Gregor, Michelle Rochman, Mustafa A Salih

Genet Med· August 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
Marcello Niceta, Simone Pizzi, Francesca Inzana, Angela Peron, Somayeh Bakhtiari, Mustafa A Salih

Clin Genet· February 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P Ferla, Shahryar Alavi, Mustafa Salih

Genet Med· January 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The engraved code of professionalism and ethics: Story of Sudanese conjoined twins.
Mustafa Abdalla M Salih, Mohammed Osman Swar

Sudan J Paediatr· January 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Neurologic complications of coeliac disease: first reported from Sudan 50 years ago and dietary solution highlighted 60 years ago.
Mustafa Abdalla M Salih, Mohammed Osman Swar

Sudan J Paediatr· January 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome.
Ghada I Aboheimed, Maha M AlRasheed, Sultan Almudimeegh, Karla A Peña-Guerra, Kelly J Cardona-Londoño, Mustafa A Salih

J Biol Chem· July 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome.
Malak Ali Alghamdi, Hicham Benabdelkamel, Afshan Masood, Narjes Saheb Sharif-Askari, Mahmood Y Hachim, Mustafa A Salih

Front Genet· June 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Moving forwards amidst the griefs.
Mustafa Abdalla M Salih, Mohammed Osman Swar

Sudan J Paediatr· January 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis