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Year Number of Results
1982 1
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1998 3
1999 5
2000 6
2001 8
2002 11
2003 3
2004 5
2005 4
2006 5
2007 5
2008 6
2009 9
2010 8
2011 13
2012 11
2013 11
2014 13
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215 results

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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.
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.
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.
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.
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.
Neuroimaging studies in Rett syndrome.
Naidu S, Kaufmann WE, Abrams MT, Pearlson GD, Lanham DC, Fredericksen KA, Barker PB, Horska A, Golay X, Mori S, Wong DF, Yablonski M, Moser HW, Johnston MV. Naidu S, et al. Among authors: kaufmann we. Brain Dev. 2001 Dec;23 Suppl 1:S62-71. doi: 10.1016/s0387-7604(01)00381-3. Brain Dev. 2001. PMID: 11738844 Review.
215 results