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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 1
2002 9
2003 2
2004 5
2005 4
2006 2
2007 3
2008 3
2009 9
2010 8
2011 11
2012 10
2013 9
2014 11
2015 13
2016 11
2017 15
2018 6
2019 10
2020 10
2021 8
2022 8
2023 7
2024 3

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154 results

Results by year

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Page 1
Rett syndrome: revised diagnostic criteria and nomenclature.
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium. Neul JL, et al. Among authors: kaufmann we. Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124. Ann Neurol. 2010. PMID: 21154482 Free PMC article.
Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome.
Glaze DG, Neul JL, Kaufmann WE, Berry-Kravis E, Condon S, Stoms G, Oosterholt S, Della Pasqua O, Glass L, Jones NE, Percy AK; Rett 002 Study Group. Glaze DG, et al. Among authors: kaufmann we. Neurology. 2019 Apr 16;92(16):e1912-e1925. doi: 10.1212/WNL.0000000000007316. Epub 2019 Mar 27. Neurology. 2019. PMID: 30918097 Free PMC article. Clinical Trial.
Severity Assessment in CDKL5 Deficiency Disorder.
Demarest S, Pestana-Knight EM, Olson HE, Downs J, Marsh ED, Kaufmann WE, Partridge CA, Leonard H, Gwadry-Sridhar F, Frame KE, Cross JH, Chin RFM, Parikh S, Panzer A, Weisenberg J, Utley K, Jaksha A, Amin S, Khwaja O, Devinsky O, Neul JL, Percy AK, Benke TA. Demarest S, et al. Among authors: kaufmann we. Pediatr Neurol. 2019 Aug;97:38-42. doi: 10.1016/j.pediatrneurol.2019.03.017. Epub 2019 Mar 27. Pediatr Neurol. 2019. PMID: 31147226 Free PMC article. Review.
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.
Transcriptomic Studies in Mouse Models of Rett Syndrome: A Review.
Sanfeliu A, Kaufmann WE, Gill M, Guasoni P, Tropea D. Sanfeliu A, et al. Among authors: kaufmann we. Neuroscience. 2019 Aug 10;413:183-205. doi: 10.1016/j.neuroscience.2019.06.013. Epub 2019 Jun 21. Neuroscience. 2019. PMID: 31229631 Review.
The behavioral phenotype of FMR1 mutations.
Boyle L, Kaufmann WE. Boyle L, et al. Among authors: kaufmann we. Am J Med Genet C Semin Med Genet. 2010 Nov 15;154C(4):469-76. doi: 10.1002/ajmg.c.30277. Am J Med Genet C Semin Med Genet. 2010. PMID: 20981777 Review.
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
Fragile X targeted pharmacotherapy: lessons learned and future directions.
Erickson CA, Davenport MH, Schaefer TL, Wink LK, Pedapati EV, Sweeney JA, Fitzpatrick SE, Brown WT, Budimirovic D, Hagerman RJ, Hessl D, Kaufmann WE, Berry-Kravis E. Erickson CA, et al. Among authors: kaufmann we. J Neurodev Disord. 2017 Jun 12;9:7. doi: 10.1186/s11689-017-9186-9. eCollection 2017. J Neurodev Disord. 2017. PMID: 28616096 Free PMC article. Review.
154 results