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Page 1
Effects of AFQ056 on language learning in fragile X syndrome.
Berry-Kravis E, Abbeduto L, Hagerman R, Coffey CS, Cudkowicz M, Erickson CA, McDuffie A, Hessl D, Ethridge L, Tassone F, Kaufmann WE, Friedmann K, Bullard L, Hoffmann A, Veenstra-VanderWeele J, Staley K, Klements D, Moshinsky M, Harkey B, Long J, Fedler J, Klingner E, Ecklund D, Costigan M, Huff T, Pearson B; NeuroNEXT FXLEARN Investigators. Berry-Kravis E, et al. J Clin Invest. 2023 Aug 31;134(5):e171723. doi: 10.1172/JCI171723. J Clin Invest. 2023. PMID: 37651202 Free PMC article. Clinical Trial.
Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1.
Cawley NX, Giddens S, Farhat NM, Luke RA, Scott KEJ, Mohamed HO, Dang Do A, Berry-Kravis E, Cologna SM, Liu F, Porter FD. Cawley NX, et al. Among authors: berry kravis e. Mol Genet Metab. 2023 Nov;140(3):107656. doi: 10.1016/j.ymgme.2023.107656. Epub 2023 Jul 23. Mol Genet Metab. 2023. PMID: 37517328
Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS).
Tjeertes J, Bacino CA, Bichell TJ, Bird LM, Bustamante M, Crean R, Jeste S, Komorowski RW, Krishnan ML, Miller MT, Nobbs D, Ochoa-Lubinoff C, Parkerson KA, Rotenberg A, Sadhwani A, Shen MD, Squassante L, Tan WH, Vincenzi B, Wheeler AC, Hipp JF, Berry-Kravis E. Tjeertes J, et al. Among authors: berry kravis e. J Neurodev Disord. 2023 Jul 26;15(1):22. doi: 10.1186/s11689-023-09494-w. J Neurodev Disord. 2023. PMID: 37495977 Free PMC article.
Updated consensus guidelines on the management of Phelan-McDermid syndrome.
Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett WE Jr, Betancur C, Brickhouse TH, Passos Bueno MR, Chopra M, Christensen CK, Cully JL, Dies K, Friedman K, Gummere B, Holder JL Jr, Jimenez-Gomez A, Kerins CA, Khan O, Kohlenberg T, Lacro RV, Levi LA, Levy T, Linnehan D, Eva L, Moshiree B, Neumeyer A, Paul SM, Phelan K, Persico A, Rapaport R, Rogers C, Saland J, Sethuram S, Shapiro J, Tarr PI, White KM, Wickstrom J, Williams KM, Winrow D, Wishart B, Kolevzon A. Srivastava S, et al. Among authors: berry kravis e. Am J Med Genet A. 2023 Aug;191(8):2015-2044. doi: 10.1002/ajmg.a.63312. Epub 2023 Jul 1. Am J Med Genet A. 2023. PMID: 37392087 Review.
347 results