Gleeson JG - Search Results

1

Implication of folate deficiency in CYP2U1 loss of function.

Pujol C, Legrand A, Parodi L, Thomas P, Mochel F, Saracino D, Coarelli G, Croon M, Popovic M, Valet M, Villain N, Elshafie S, Issa M, Zuily S, Renaud M, Marelli-Tosi C, Legendre M, Trimouille A, Kemlin I, Mathieu S, Gleeson JG, Lamari F, Galatolo D, Alkouri R, Tse C, Rodriguez D, Ewenczyk C, Fellmann F, Kuntzer T, Blond E, El Hachimi KH, Darios F, Seyer A, Gazi AD, Giavalisco P, Perin S, Boucher JL, Le Corre L, Santorelli FM, Goizet C, Zaki MS, Picaud S, Mourier A, Steculorum SM, Mignot C, Durr A, Trifunovic A, Stevanin G. Pujol C, et al. Among authors: gleeson jg. J Exp Med. 2021 Nov 1;218(11):e20210846. doi: 10.1084/jem.20210846. Epub 2021 Sep 21. J Exp Med. 2021. PMID: 34546337 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

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.

5

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG. Novarino G, et al. Among authors: gleeson jg. Science. 2014 Jan 31;343(6170):506-511. doi: 10.1126/science.1247363. Science. 2014. PMID: 24482476 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 ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

Crow YJ, Zaki MS, Abdel-Hamid MS, Abdel-Salam G, Boespflug-Tanguy O, Cordeiro NJ, Gleeson JG, Gowrinathan NR, Laugel V, Renaldo F, Rodriguez D, Livingston JH, Rice GI. Crow YJ, et al. Among authors: gleeson jg. Neuropediatrics. 2014 Dec;45(6):386-93. doi: 10.1055/s-0034-1389161. Epub 2014 Sep 22. Neuropediatrics. 2014. PMID: 25243380

8

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.

9

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.

10

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.

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