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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: kishnani ps. 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.
National down syndrome patient database: Insights from the development of a multi-center registry study.
Lavigne J, Sharr C, Ozonoff A, Prock LA, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McCannon JB, McDonough ME, Schwartz A, Berrier KL, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG. Lavigne J, et al. Am J Med Genet A. 2015 Nov;167A(11):2520-6. doi: 10.1002/ajmg.a.37267. Epub 2015 Aug 6. Am J Med Genet A. 2015. PMID: 26249752
Assessment of Cognitive Scales to Examine Memory, Executive Function and Language in Individuals with Down Syndrome: Implications of a 6-month Observational Study.
Liogier d'Ardhuy X, Edgin JO, Bouis C, de Sola S, Goeldner C, Kishnani P, Nöldeke J, Rice S, Sacco S, Squassante L, Spiridigliozzi G, Visootsak J, Heller J, Khwaja O. Liogier d'Ardhuy X, et al. Front Behav Neurosci. 2015 Nov 18;9:300. doi: 10.3389/fnbeh.2015.00300. eCollection 2015. Front Behav Neurosci. 2015. PMID: 26635554 Free PMC article.
Detecting celiac disease in patients with Down syndrome.
Sharr C, Lavigne J, Elsharkawi IM, Ozonoff A, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McDonough ME, Schwartz A, Berrier KL, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG. Sharr C, et al. Am J Med Genet A. 2016 Dec;170(12):3098-3105. doi: 10.1002/ajmg.a.37879. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27605215
Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study.
Lavigne J, Sharr C, Elsharkawi I, Ozonoff A, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McDonough ME, Schwartz A, Berrier K, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG. Lavigne J, et al. Am J Med Genet A. 2017 Jun;173(6):1539-1545. doi: 10.1002/ajmg.a.38219. Epub 2017 Mar 23. Am J Med Genet A. 2017. PMID: 28332275
397 results