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Secondary NAD+ deficiency in the inherited defect of glutamine synthetase.
Hu L, Ibrahim K, Stucki M, Frapolli M, Shahbeck N, Chaudhry FA, Görg B, Häussinger D, Penberthy WT, Ben-Omran T, Häberle J. Hu L, et al. Among authors: ibrahim k. J Inherit Metab Dis. 2015 Nov;38(6):1075-83. doi: 10.1007/s10545-015-9846-4. Epub 2015 Apr 21. J Inherit Metab Dis. 2015. PMID: 25896882 Free article.
Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum.
Elsaid MF, Kamel H, Chalhoub N, Aziz NA, Ibrahim K, Ben-Omran T, George B, Al-Dous E, Mohamoud Y, Malek JA, Ross ME, Aleem AA. Elsaid MF, et al. Among authors: ibrahim k. Am J Med Genet A. 2014 Jun;164A(6):1614-7. doi: 10.1002/ajmg.a.36485. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668585 No abstract available.
A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families.
Al-Sulaiman R, Othman A, El-Akouri K, Fareed S, AlMulla H, Sukik A, Al-Mureikhi M, Shahbeck N, Ali R, Al-Mesaifri F, Musa S, Al-Mulla M, Ibrahim K, Mohamed K, Al-Nesef MA, Ehlayel M, Ben-Omran T. Al-Sulaiman R, et al. Among authors: ibrahim k. Am J Med Genet A. 2020 Nov;182(11):2570-2580. doi: 10.1002/ajmg.a.61829. Epub 2020 Aug 28. Am J Med Genet A. 2020. PMID: 32856792
Gene therapy for spinal muscular atrophy: the Qatari experience.
Ali HG, Ibrahim K, Elsaid MF, Mohamed RB, Abeidah MIA, Al Rawwas AO, Elshafey K, Almulla H, El-Akouri K, Almulla M, Othman A, Musa S, Al-Mesaifri F, Ali R, Shahbeck N, Al-Mureikhi M, Alsulaiman R, Alkaabi S, Ben-Omran T. Ali HG, et al. Among authors: ibrahim k. Gene Ther. 2021 Nov;28(10-11):676-680. doi: 10.1038/s41434-021-00273-7. Epub 2021 Jul 19. Gene Ther. 2021. PMID: 34276047 Free PMC article.
Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia.
Elsaid MF, Chalhoub N, Ben-Omran T, Kumar P, Kamel H, Ibrahim K, Mohamoud Y, Al-Dous E, Al-Azwani I, Malek JA, Suhre K, Ross ME, Aleem AA. Elsaid MF, et al. Among authors: ibrahim k. Ann Neurol. 2017 Jan;81(1):68-78. doi: 10.1002/ana.24826. Ann Neurol. 2017. PMID: 27863452
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.
Ghosh SG, Lee S, Fabunan R, Chai G, Zaki MS, Abdel-Salam G, Sultan T, Ben-Omran T, Alvi JR, McEvoy-Venneri J, Stanley V, Patel A, Ross D, Ding J, Jain M, Pan D, Lübbert P, Kammerer B, Wiedemann N, Verhoeven-Duif NM, Jans JJ, Murphy D, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Ibrahim K, Waters ER, Maroofian R, Gleeson JG. Ghosh SG, et al. Among authors: ibrahim k. Genet Med. 2021 Mar;23(3):524-533. doi: 10.1038/s41436-020-01010-y. Epub 2020 Nov 14. Genet Med. 2021. PMID: 33188300 Free article.
936 results