Gleeson JG - Search Results

1

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.

Iruzubieta P, Alves CAPF, Al Shamsi AM, ElGhazali G, Zaki MS, Pinelli L, Lopergolo D, Cho BPH, Jolly AA, Al Futaisi A, Al-Amrani F, Galli J, Fazzi E, Vulin K, Barajas-Olmos F, Hengel H, Aljamal BM, Nasr V, Assarzadegan F, Ragno M, Trojano L, Ojeda NM, Çakar A, Bianchi S, Pescini F, Poggesi A, Al Tenalji A, Aziz M, Mohammad R, Chedrawi A, De Stefano N, Zifarelli G, Schöls L, Haack TB, Rebelo A, Zuchner S, Koc F, Griffiths LR, Orozco L, Helmes KG, Babaei M, Bauer P, Chan Jeong W, Karimiani EG, Schmidts M, Gleeson JG, Chung WK, Alkuraya FS, Shalbafan B, Markus HS, Houlden H, Maroofian R. Iruzubieta P, et al. Among authors: gleeson jg. EBioMedicine. 2024 Sep;107:105297. doi: 10.1016/j.ebiom.2024.105297. Epub 2024 Aug 26. EBioMedicine. 2024. PMID: 39191170 Free PMC article.

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

3

Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder.

Zaki MS, Afifi HH, Barkovich AJ, Gleeson JG. Zaki MS, et al. Among authors: gleeson jg. Am J Med Genet A. 2009 Aug;149A(8):1789-94. doi: 10.1002/ajmg.a.32983. Am J Med Genet A. 2009. PMID: 19610102 Free PMC article.

4

Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.

Zaki MS, Saleem SN, Dobyns WB, Barkovich AJ, Bartsch H, Dale AM, Ashtari M, Akizu N, Gleeson JG, Grijalvo-Perez AM. Zaki MS, et al. Among authors: gleeson jg. Brain. 2012 Aug;135(Pt 8):2416-27. doi: 10.1093/brain/aws162. Epub 2012 Jul 20. Brain. 2012. PMID: 22822038 Free PMC article.

5

A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).

Abdel-Salam GM, Schaffer AE, Zaki MS, Dixon-Salazar T, Mostafa IS, Afifi HH, Gleeson JG. Abdel-Salam GM, et al. Among authors: gleeson jg. Am J Med Genet A. 2012 Nov;158A(11):2788-96. doi: 10.1002/ajmg.a.35583. Epub 2012 Sep 18. Am J Med Genet A. 2012. PMID: 22991235 Free PMC article.

6

Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.

Ismail S, Schaffer AE, Rosti RO, Gleeson JG, Zaki MS. Ismail S, et al. Among authors: gleeson jg. Gene. 2014 Apr 15;539(2):279-82. doi: 10.1016/j.gene.2014.01.070. Epub 2014 Feb 13. Gene. 2014. PMID: 24530477 Free PMC article.

7

Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis.

Zaki MS, Selim L, Mansour L, Mahmoud IG, Fenstermaker AG, Gabriel SB, Gleeson JG. Zaki MS, et al. Among authors: gleeson jg. Clin Genet. 2015 Jul;88(1):95-7. doi: 10.1111/cge.12516. Epub 2014 Dec 11. Clin Genet. 2015. PMID: 25496456 No abstract available.

8

Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families.

Zaki MS, Masri A, Gregor A, Gleeson JG, Rosti RO. Zaki MS, et al. Among authors: gleeson jg. Am J Med Genet A. 2015 Nov;167A(11):2503-2507. doi: 10.1002/ajmg.a.37225. Epub 2015 Jun 24. Am J Med Genet A. 2015. PMID: 26109232 Free PMC article.

9

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.

Shamseldin HE, Faqeih E, Alasmari A, Zaki MS, Gleeson JG, Alkuraya FS. Shamseldin HE, et al. Among authors: gleeson jg. Am J Hum Genet. 2016 Jan 7;98(1):210-5. doi: 10.1016/j.ajhg.2015.11.013. Epub 2015 Dec 17. Am J Hum Genet. 2016. PMID: 26708753 Free PMC article.

10

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.

Rosti RO, Dikoglu E, Zaki MS, Abdel-Salam G, Makhseed N, Sese JC, Musaev D, Rosti B, Harbert MJ, Jones MC, Vaux KK, Gleeson JG. Rosti RO, et al. Among authors: gleeson jg. Am J Med Genet A. 2016 Apr;170A(4):992-8. doi: 10.1002/ajmg.a.37533. Epub 2016 Jan 5. Am J Med Genet A. 2016. PMID: 27001912 Free PMC article.

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