Abdel Aleem AK - Search Results

1

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

2

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. Neurology. 2008 Feb 12;70(7):556-65. doi: 10.1212/01.wnl.0000277644.12087.fd. Neurology. 2008. PMID: 18268248

3

Spinocerebellar ataxia type 2 (SCA2) in an Egyptian family presenting with polyphagia and marked CAG expansion in infancy.

Abdel-Aleem A, Zaki MS. Abdel-Aleem A, et al. J Neurol. 2008 Mar;255(3):413-9. doi: 10.1007/s00415-008-0690-4. Epub 2008 Feb 26. J Neurol. 2008. PMID: 18297329

4

Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.

Abdel Aleem A, Abu-Shahba N, Swistun D, Silhavy J, Bielas SL, Sattar S, Gleeson JG, Zaki MS. Abdel Aleem A, et al. Eur J Med Genet. 2011 Jan-Feb;54(1):82-5. doi: 10.1016/j.ejmg.2010.10.006. Epub 2010 Nov 12. Eur J Med Genet. 2011. PMID: 20971220 Free PMC article.

5

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

6

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

7

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. 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.

8

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. Clin Genet. 2016 Feb;89(2):210-6. doi: 10.1111/cge.12657. Epub 2015 Sep 29. Clin Genet. 2016. PMID: 26285796

9

Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum.

Ibrahim DMA, Ali OSM, Nasr H, Fateen E, AbdelAleem A. Ibrahim DMA, et al. Orphanet J Rare Dis. 2023 Mar 13;18(1):52. doi: 10.1186/s13023-023-02637-1. Orphanet J Rare Dis. 2023. PMID: 36907859 Free PMC article.

10

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, Krishnamoorthy KS, Lagier-Tourenne C, Magee A, Pascual-Castroviejo I, Salpietro CD, Sarco D, Dallapiccola B, Gleeson JG; International JSRD Study Group. Valente EM, et al. Ann Neurol. 2006 Mar;59(3):527-34. doi: 10.1002/ana.20749. Ann Neurol. 2006. PMID: 16453322 Free article.

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