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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. Among authors: kaufmann we. J Clin Invest. 2023 Aug 31;134(5):e171723. doi: 10.1172/JCI171723. J Clin Invest. 2023. PMID: 37651202 Free PMC article. Clinical Trial.
Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals.
Moffitt BA, Oberman LM, Beamer L, Srikanth S, Jain L, Cascio L, Jones K, Pauly R, May M, Skinner C, Buchanan C, DuPont BR, Kaufmann WE, Valentine K, Ward LD, Ivankovic D, Rogers RC, Phelan K, Sarasua SM, Boccuto L. Moffitt BA, et al. Among authors: kaufmann we. Clin Genet. 2023 Aug;104(2):198-209. doi: 10.1111/cge.14361. Epub 2023 May 18. Clin Genet. 2023. PMID: 37198960 Free PMC article.
Blarcamesine for the treatment of Early Alzheimer's Disease: Results from the ANAVEX2-73-AD-004 Phase IIB/III trial.
Macfarlane S, Grimmer T, Teo K, O'Brien TJ, Woodward M, Grunfeld J, Mander A, Brodtmann A, Brew BJ, Morris P, Short C, Kurrle S, Lai R, Bharadwaj S, Drysdale P, Sturm J, Lewis SJG, Barton D, Kalafatis C, Sharif S, Perry R, Mannering N, MacSweeney JE, Pearson S, Evans C, Krishna V, Thompson A, Munisamy M, Bhatt N, Asher A, Connell S, Lynch J, Rutgers SM, Dautzenberg PL, Prins N, Oschmann P, Frölich L, Tacik P, Peters O, Wiltfang J, Henri-Bhargava A, Smith E, Pasternak S, Frank A, Chertkow H, Ingram J, Hsiung GR, Brittain R, Tartaglia C, Cohen S, Villa LM, Gordon E, Jubault T, Guizard N, Tucker A, Kaufmann WE, Jin K, Chezem WR, Missling CU, Sabbagh MN. Macfarlane S, et al. Among authors: kaufmann we. J Prev Alzheimers Dis. 2025 Jan;12(1):100016. doi: 10.1016/j.tjpad.2024.100016. Epub 2025 Jan 1. J Prev Alzheimers Dis. 2025. PMID: 39800452 Free article. Clinical Trial.
International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USA.
Downs J, Pichard DC, Kaufmann WE, Horrigan JP, Raspa M, Townend G, Marsh ED, Leonard H, Motil K, Dietz AC, Garg N, Ananth A, Byiers B, Peters S, Beatty C, Symons F, Jacobs A, Youakim J, Suter B, Santosh P, Neul JL, Benke TA. Downs J, et al. Among authors: kaufmann we. Trials. 2024 Dec 21;25(1):845. doi: 10.1186/s13063-024-08678-6. Trials. 2024. PMID: 39709426 Free PMC article.
Rett syndrome.
Gold WA, Percy AK, Neul JL, Cobb SR, Pozzo-Miller L, Issar JK, Ben-Zeev B, Vignoli A, Kaufmann WE. Gold WA, et al. Among authors: kaufmann we. Nat Rev Dis Primers. 2024 Nov 7;10(1):84. doi: 10.1038/s41572-024-00568-0. Nat Rev Dis Primers. 2024. PMID: 39511247 Review.
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. 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.
218 results