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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
CDKL5 deficiency disorder and other infantile-onset genetic epilepsies.
Daniels C, Greene C, Smith L, Pestana-Knight E, Demarest S, Zhang B, Benke TA, Poduri A, Olson HE; CDKL5 Study Group. Daniels C, et al. Dev Med Child Neurol. 2024 Apr;66(4):456-468. doi: 10.1111/dmcn.15747. Epub 2023 Sep 28. Dev Med Child Neurol. 2024. PMID: 37771170
Concentration-QTc Relationship from a Single Ascending Dose Study of ANAVEX3-71, a Novel Sigma-1 Receptor and Allosteric M1 Muscarinic Receptor Agonist in Development for the Treatment of Frontotemporal Dementia, Schizophrenia, and Alzheimer's Disease.
Fadiran EO, Hammond E, Tran J, Xue H, Chen J, Kaufmann WE, Missling CU, Darpo B. Fadiran EO, et al. Among authors: kaufmann we. Clin Pharmacol Drug Dev. 2023 Sep;12(9):888-901. doi: 10.1002/cpdd.1303. Epub 2023 Jul 28. Clin Pharmacol Drug Dev. 2023. PMID: 37515316
Descriptive analysis of seizures and comorbidities associated with fragile X syndrome.
Albizua I, Charen K, Shubeck L, Talboy A, Berry-Kravis E, Kaufmann WE, Stallworth JL, Drazba KT, Erickson CA, Sweeney JA, Tartaglia N, Warren SF, Hagerman R, Sherman SL, Warren ST, Jin P, Allen EG. Albizua I, et al. Among authors: kaufmann we. Mol Genet Genomic Med. 2022 Aug;10(8):e2001. doi: 10.1002/mgg3.2001. Epub 2022 Jul 18. Mol Genet Genomic Med. 2022. PMID: 35852003 Free PMC article.
213 results