Abdel Aleem A - Search Results

1

Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant.

Abdel Aleem A, Elsaid MF, Chalhoub N, Chakroun A, Mohamed KAS, AlShami R, Kuzu O, Mohamed RB, Ibrahim K, AlMudheki N, Osman O, Ross ME, ELalamy O. Abdel Aleem A, et al. Neuromuscul Disord. 2020 Jun;30(6):457-471. doi: 10.1016/j.nmd.2020.03.009. Epub 2020 Apr 17. Neuromuscul Disord. 2020. PMID: 32444167

2

Non-truncating LIFR mutation: causal for prominent congenital pain insensitivity phenotype with progressive vertebral destruction?

Elsaid MF, Chalhoub N, Kamel H, Ehlayel M, Ibrahim N, Elsaid A, Kumar P, Khalak H, Ilyin VA, Suhre K, Abdel Aleem A. Elsaid MF, et al. Among authors: abdel aleem a. Clin Genet. 2016 Feb;89(2):210-6. doi: 10.1111/cge.12657. Epub 2015 Sep 29. Clin Genet. 2016. PMID: 26285796

3

NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup.

Elsaid MF, Ibrahim K, Chalhoub N, Elsotouhy A, El Mudehki N, Abdel Aleem A. Elsaid MF, et al. Among authors: abdel aleem a. BMC Med Genet. 2017 Mar 21;18(1):33. doi: 10.1186/s12881-017-0395-6. BMC Med Genet. 2017. PMID: 28327087 Free PMC article.

4

Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome.

Elsaid MF, Chalhoub N, Ben-Omran T, Kamel H, Al Mureikhi M, Ibrahim K, Elizabeth Ross M, Abdel Aleem AK. Elsaid MF, et al. Among authors: abdel aleem ak. Clin Genet. 2018 Feb;93(2):387-391. doi: 10.1111/cge.13122. Epub 2017 Dec 20. Clin Genet. 2018. PMID: 28787085

5

Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida.

Wolujewicz P, Aguiar-Pulido V, AbdelAleem A, Nair V, Thareja G, Suhre K, Shaw GM, Finnell RH, Elemento O, Ross ME. Wolujewicz P, et al. Genet Med. 2021 Jul;23(7):1211-1218. doi: 10.1038/s41436-021-01126-9. Epub 2021 Mar 8. Genet Med. 2021. PMID: 33686259 Free PMC article.

6

Systems biology analysis of human genomes points to key pathways conferring spina bifida risk.

Aguiar-Pulido V, Wolujewicz P, Martinez-Fundichely A, Elhaik E, Thareja G, Abdel Aleem A, Chalhoub N, Cuykendall T, Al-Zamer J, Lei Y, El-Bashir H, Musser JM, Al-Kaabi A, Shaw GM, Khurana E, Suhre K, Mason CE, Elemento O, Finnell RH, Ross ME. Aguiar-Pulido V, et al. Among authors: abdel aleem a. Proc Natl Acad Sci U S A. 2021 Dec 21;118(51):e2106844118. doi: 10.1073/pnas.2106844118. Proc Natl Acad Sci U S A. 2021. PMID: 34916285 Free PMC article.

7

Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients.

Mahmoud IG, Mahmoud M, Refaat M, Girgis M, Waked N, El Badawy A, Selim L, Hassan S, Abdel Aleem AK. Mahmoud IG, et al. Among authors: abdel aleem ak. Pediatr Neurol. 2014 Feb;50(2):140-8. doi: 10.1016/j.pediatrneurol.2013.10.008. Epub 2013 Oct 24. Pediatr Neurol. 2014. PMID: 24315536

8

Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns.

Olthof AM, White AK, Mieruszynski S, Doggett K, Lee MF, Chakroun A, Abdel Aleem AK, Rousseau J, Magnani C, Roifman CM, Campeau PM, Heath JK, Kanadia RN. Olthof AM, et al. Among authors: abdel aleem ak. Nucleic Acids Res. 2021 Apr 6;49(6):3524-3545. doi: 10.1093/nar/gkab118. Nucleic Acids Res. 2021. PMID: 33660780 Free PMC article.

9

The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.

Zaki MS, Abdel-Aleem A, Abdel-Salam G, Marsh SE, Silhavy JL, Barkovich AJ, Ross ME, Saleem SN, Dobyns WB, Gleeson JG. Zaki MS, et al. Among authors: abdel salam g, abdel aleem a. Neurology. 2008 Feb 12;70(7):556-65. doi: 10.1212/01.wnl.0000277644.12087.fd. Neurology. 2008. PMID: 18268248

10

Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB.

AbdelAleem A, Haddad N, Al-Ettribi G, Crunk A, Elsotouhy A. AbdelAleem A, et al. Neurogenetics. 2023 Apr;24(2):103-112. doi: 10.1007/s10048-023-00710-2. Epub 2023 Feb 13. Neurogenetics. 2023. PMID: 36780047 Free PMC article.

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