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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: barnes kv. 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.
Developmental delay in Rett syndrome: data from the natural history study.
Neul JL, Lane JB, Lee HS, Geerts S, Barrish JO, Annese F, Baggett LM, Barnes K, Skinner SA, Motil KJ, Glaze DG, Kaufmann WE, Percy AK. Neul JL, et al. J Neurodev Disord. 2014;6(1):20. doi: 10.1186/1866-1955-6-20. Epub 2014 Jul 22. J Neurodev Disord. 2014. PMID: 25071871 Free PMC article.
Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis.
Tarquinio DC, Hou W, Neul JL, Lane JB, Barnes KV, O'Leary HM, Bruck NM, Kaufmann WE, Motil KJ, Glaze DG, Skinner SA, Annese F, Baggett L, Barrish JO, Geerts SP, Percy AK. Tarquinio DC, et al. Among authors: barnes kv. Pediatr Neurol. 2015 Jun;52(6):585-91.e2. doi: 10.1016/j.pediatrneurol.2015.02.007. Epub 2015 Feb 16. Pediatr Neurol. 2015. PMID: 25801175 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: barnes kv. Dev Neurorehabil. 2017 Feb;20(2):108-114. doi: 10.3109/17518423.2015.1087437. Epub 2015 Oct 12. Dev Neurorehabil. 2017. PMID: 26457613
Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome.
O'Leary HM, Kaufmann WE, Barnes KV, Rakesh K, Kapur K, Tarquinio DC, Cantwell NG, Roche KJ, Rose SA, Walco AC, Bruck NM, Bazin GA, Holm IA, Alexander ME, Swanson LC, Baczewski LM, Poon C, Mayor Torres JM, Nelson CA 3rd, Sahin M. O'Leary HM, et al. Among authors: barnes kv. Ann Clin Transl Neurol. 2018 Jan 31;5(3):323-332. doi: 10.1002/acn3.533. eCollection 2018 Mar. Ann Clin Transl Neurol. 2018. PMID: 29560377 Free PMC article.
Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey.
Kaufmann WE, Percy AK, Neul JL, Downs J, Leonard H, Nues P, Sharma GD, Bartolotta TE, Townend GS, Curfs LMG, Mariotti O, Buda C, O'Leary HM, Oberman LM, Vogel-Farley V, Barnes KV, Missling CU. Kaufmann WE, et al. Among authors: barnes kv. Orphanet J Rare Dis. 2024 Aug 13;19(1):296. doi: 10.1186/s13023-024-03313-8. Orphanet J Rare Dis. 2024. PMID: 39138481 Free PMC article.
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