Publications by authors named "Ahlam A A Hamed"

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Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.
Efil Bayam, Peggy Tilly, Stephan C Collins, José Rivera Alvarez, Meghna Kannan, Ahlam A A Hamed

EMBO Mol Med· January 2025

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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

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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, Mohamed Ahmed Abdullah, Mayada O E Mohamed, Eman O E Mohamed, Mohamed Nimir

Eur J Hum Genet· October 2024

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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, Inaam N Mohamed

Neurogenetics· October 2024

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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, Inaam N Mohamed

medRxiv· May 2024

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A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.
Mutaz Amin, Cedric Vignal, Esraa Eltaraifee, Inaam N Mohammed, Ahlam A A Hamed, Mohamed Mustafa

BMC Med Genomics· November 2022

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Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan.
Mutaz Amin, Cedric Vignal, Ahlam A A Hamed, Inaam N Mohammed, Maha A Elseed, Mohamed Mustafa, Mohamed Alsiddig

Front Genet· June 2022

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Novel variants causing megalencephalic leukodystrophy in Sudanese families.
Mutaz Amin, Cedric Vignal, Ahlam A A Hamed, Inaam N Mohammed, Maha A Elseed, Mohamed Alsiddig

J Hum Genet· March 2022

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Pathogenic Variants in Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia.
Ashraf Yahia, Liena E O Elsayed, Remi Valter, Ahlam A A Hamed, Inaam N Mohammed

Front Neurol· August 2021

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Novel Homozygous Missense Mutation in the Gene in a Large Sudanese Family.
Liena E O Elsayed, Inaam N Mohammed, Ahlam A A Hamed, Maha A Elseed, Mustafa A M Salih

Front Neurol· October 2020

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Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family.
Liena E O Elsayed, Inaam N Mohammed, Ahlam A A Hamed, Maha A Elseed, Mustafa A M Salih

BMC Med Genet· May 2018

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A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease.
Liena Elbaghir Omer Elsayed, Valérie Drouet, Tatiana Usenko, Inaam N Mohammed, Ahlam AbdAlrahman Ahmed Hamed, Ashraf Yahia Osman Mohamed

Ann Neurol· February 2016

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Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.
Liena E O Elsayed, Inaam N Mohammed, Ahlam A A Hamed, Maha A Elseed, Adam Johnson, Hassab Elrasoul S A Mohamed, Mohamed N Idris, Ashraf Y O Mohamed, Eman O E Mohamed

Eur J Hum Genet· January 2016

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