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Page 1
Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes.
Frohlich J, Miller MT, Bird LM, Garces P, Purtell H, Hoener MC, Philpot BD, Sidorov MS, Tan WH, Hernandez MC, Rotenberg A, Jeste SS, Krishnan M, Khwaja O, Hipp JF. Frohlich J, et al. Among authors: khwaja o. Biol Psychiatry. 2019 May 1;85(9):752-759. doi: 10.1016/j.biopsych.2019.01.008. Epub 2019 Jan 19. Biol Psychiatry. 2019. PMID: 30826071 Free PMC article.
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
Ching MS, Shen Y, Tan WH, Jeste SS, Morrow EM, Chen X, Mukaddes NM, Yoo SY, Hanson E, Hundley R, Austin C, Becker RE, Berry GT, Driscoll K, Engle EC, Friedman S, Gusella JF, Hisama FM, Irons MB, Lafiosca T, LeClair E, Miller DT, Neessen M, Picker JD, Rappaport L, Rooney CM, Sarco DP, Stoler JM, Walsh CA, Wolff RR, Zhang T, Nasir RH, Wu BL; Children's Hospital Boston Genotype Phenotype Study Group. Ching MS, et al. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5;153B(4):937-47. doi: 10.1002/ajmg.b.31063. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20468056 Free PMC article.
A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAA-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome.
Goeldner C, Kishnani PS, Skotko BG, Casero JL, Hipp JF, Derks M, Hernandez MC, Khwaja O, Lennon-Chrimes S, Noeldeke J, Pellicer S, Squassante L, Visootsak J, Wandel C, Fontoura P, d'Ardhuy XL; Clematis Study Group. Goeldner C, et al. Among authors: khwaja o. J Neurodev Disord. 2022 Feb 5;14(1):10. doi: 10.1186/s11689-022-09418-0. J Neurodev Disord. 2022. PMID: 35123401 Free PMC article. Clinical Trial.
Progress in Understanding and Treating SCN2A-Mediated Disorders.
Sanders SJ, Campbell AJ, Cottrell JR, Moller RS, Wagner FF, Auldridge AL, Bernier RA, Catterall WA, Chung WK, Empfield JR, George AL Jr, Hipp JF, Khwaja O, Kiskinis E, Lal D, Malhotra D, Millichap JJ, Otis TS, Petrou S, Pitt G, Schust LF, Taylor CM, Tjernagel J, Spiro JE, Bender KJ. Sanders SJ, et al. Among authors: khwaja o. Trends Neurosci. 2018 Jul;41(7):442-456. doi: 10.1016/j.tins.2018.03.011. Epub 2018 Apr 23. Trends Neurosci. 2018. PMID: 29691040 Free PMC article. Review.
Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome.
Khwaja OS, Ho E, Barnes KV, O'Leary HM, Pereira LM, Finkelstein Y, Nelson CA 3rd, Vogel-Farley V, DeGregorio G, Holm IA, Khatwa U, Kapur K, Alexander ME, Finnegan DM, Cantwell NG, Walco AC, Rappaport L, Gregas M, Fichorova RN, Shannon MW, Sur M, Kaufmann WE. Khwaja OS, et al. Among authors: o leary hm. Proc Natl Acad Sci U S A. 2014 Mar 25;111(12):4596-601. doi: 10.1073/pnas.1311141111. Epub 2014 Mar 12. Proc Natl Acad Sci U S A. 2014. PMID: 24623853 Free PMC article.
Detecting autonomic response to pain in Rett syndrome.
O'Leary HM, Marschik PB, Khwaja OS, Ho E, Barnes KV, Clarkson TW, Bruck NM, Kaufmann WE. O'Leary HM, et al. Among authors: khwaja os. Dev Neurorehabil. 2017 Feb;20(2):108-114. doi: 10.3109/17518423.2015.1087437. Epub 2015 Oct 12. Dev Neurorehabil. 2017. PMID: 26457613
76 results