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Severity Assessment in CDKL5 Deficiency Disorder.
Demarest S, Pestana-Knight EM, Olson HE, Downs J, Marsh ED, Kaufmann WE, Partridge CA, Leonard H, Gwadry-Sridhar F, Frame KE, Cross JH, Chin RFM, Parikh S, Panzer A, Weisenberg J, Utley K, Jaksha A, Amin S, Khwaja O, Devinsky O, Neul JL, Percy AK, Benke TA. Demarest S, et al. Among authors: khwaja o. Pediatr Neurol. 2019 Aug;97:38-42. doi: 10.1016/j.pediatrneurol.2019.03.017. Epub 2019 Mar 27. Pediatr Neurol. 2019. PMID: 31147226 Free PMC article. Review.
Clinical severity and quality of life in children and adolescents with Rett syndrome.
Lane JB, Lee HS, Smith LW, Cheng P, Percy AK, Glaze DG, Neul JL, Motil KJ, Barrish JO, Skinner SA, Annese F, McNair L, Graham J, Khwaja O, Barnes K, Krischer JP. Lane JB, et al. Among authors: khwaja o. Neurology. 2011 Nov 15;77(20):1812-8. doi: 10.1212/WNL.0b013e3182377dd2. Epub 2011 Oct 19. Neurology. 2011. PMID: 22013176 Free PMC article.
Rett syndrome diagnostic criteria: lessons from the Natural History Study.
Percy AK, Neul JL, Glaze DG, Motil KJ, Skinner SA, Khwaja O, Lee HS, Lane JB, Barrish JO, Annese F, McNair L, Graham J, Barnes K. Percy AK, et al. Among authors: khwaja o. Ann Neurol. 2010 Dec;68(6):951-5. doi: 10.1002/ana.22154. Ann Neurol. 2010. PMID: 21104896 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
Rett syndrome: revised diagnostic criteria and nomenclature.
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium. Neul JL, et al. Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124. Ann Neurol. 2010. PMID: 21154482 Free PMC article.
Copy number variation plays an important role in clinical epilepsy.
Olson H, Shen Y, Avallone J, Sheidley BR, Pinsky R, Bergin AM, Berry GT, Duffy FH, Eksioglu Y, Harris DJ, Hisama FM, Ho E, Irons M, Jacobsen CM, James P, Kothare S, Khwaja O, Lipton J, Loddenkemper T, Markowitz J, Maski K, Megerian JT, Neilan E, Raffalli PC, Robbins M, Roberts A, Roe E, Rollins C, Sahin M, Sarco D, Schonwald A, Smith SE, Soul J, Stoler JM, Takeoka M, Tan WH, Torres AR, Tsai P, Urion DK, Weissman L, Wolff R, Wu BL, Miller DT, Poduri A. Olson H, et al. Among authors: khwaja o. Ann Neurol. 2014 Jun;75(6):943-58. doi: 10.1002/ana.24178. Epub 2014 Jun 13. Ann Neurol. 2014. PMID: 24811917 Free PMC article.
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.
Motor, cognitive, and functional declines contribute to a single progressive factor in early HD.
Schobel SA, Palermo G, Auinger P, Long JD, Ma S, Khwaja OS, Trundell D, Cudkowicz M, Hersch S, Sampaio C, Dorsey ER, Leavitt BR, Kieburtz KD, Sevigny JJ, Langbehn DR, Tabrizi SJ; TRACK-HD, COHORT, CARE-HD, and 2CARE Huntington Study Group Investigators. Schobel SA, et al. Neurology. 2017 Dec 12;89(24):2495-2502. doi: 10.1212/WNL.0000000000004743. Epub 2017 Nov 15. Neurology. 2017. PMID: 29142089 Free PMC article.
76 results