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European Journal of Human Genetics : EJHG|July 11, 2013
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutationsSolaf M Elsayed, Raoul Heller, Michaela Thoenes, et al.American Journal of Medical Genetics. Part A|June 25, 2013
Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type IGhada M H Abdel-Salam, Mohamed S Abdel-Hamid, Nihal A Hassan, et al.Journal of the Neurological Sciences|December 17, 2017
Extracellular miR-145, miR-223 and miR-326 expression signature allow for differential diagnosis of immune-mediated neuroinflammatory diseasesWessam E Sharaf-Eldin, Nirmeen A Kishk, Yehia Z Gad, et al.Cytogenetic and Genome Research|November 13, 2019
Bilateral Calcification of Basal Ganglia in a Patient with Duplication of Both 11q13.1q22.1 and 4q35.2 with New Phenotypic FeaturesMaha S Zaki, Ola M Eid, Maha M Eid, et al.Molecular Syndromology|February 6, 2025
A Unique Derivative Chromosome 4 with a Predominant 4p16.3 Microduplication Phenotype and a Literature ReviewMona K Mekkawy, Alaa K Kamel, Khaled M Refaat, et al.Movement Disorders : Official Journal of the Movement Disorder Society|August 29, 2025
Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar AtaxiaReza Maroofian, Giulia Spoto, Dalila Moualek, et al.Metabolic Brain Disease|July 9, 2016
Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effectGhada M H Abdel-Salam, Mohamed S Abdel-Hamid, Samira I Ismail, et al.The Journal of Biological Chemistry|November 27, 2025
Neurodevelopmental disease-causing variants in choline kinase CHKA gene couple phosphatidylcholine synthesis to oxidative stress damage and disease etiologyMahtab Tavasoli, Mariam Alkandari, Gabriel Dorighello, et al.Journal of Human Genetics|July 6, 2019
Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effectsMohamed S Abdel-Hamid, Mahmoud Y Issa, Hasnaa M Elbendary, et al.Metabolic Brain Disease|March 24, 2017
Aicardi-Goutières syndrome: unusual neuro-radiological manifestationsGhada M H Abdel-Salam, Mohamed S Abdel-Hamid, Shaimaa A Mohammad, et al.Pageof 25