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Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder.
Haviland I, Hector RD, Swanson LC, Verran AS, Sherrill E, Frazier Z, Denny AM, Lucash J, Zhang B, Dubbs HA, Marsh ED, Weisenberg JL, Leonard H, Crippa M, Cogliati F, Russo S, Suter B, Rajaraman R, Percy AK, Schreiber JM, Demarest S, Benke TA, Chopra M, Yu TW, Olson HE. Haviland I, et al. Among authors: percy ak. Am J Med Genet A. 2025 Jan;197(1):e63843. doi: 10.1002/ajmg.a.63843. Epub 2024 Aug 28. Am J Med Genet A. 2025. PMID: 39205479
Distribution of hand function by age in individuals with Rett syndrome.
Neul JL, Benke TA, Marsh ED, Lane JB, Lieberman DN, Skinner SA, Glaze DG, Suter B, Heydemann PT, Beisang AA, Standridge SM, Ryther RCC, Haas RH, Edwards LJ, Ananth A, Percy AK. Neul JL, et al. Among authors: percy ak. Ann Child Neurol Soc. 2023 Sep;1(3):228-238. doi: 10.1002/cns3.20038. Epub 2023 Sep 12. Ann Child Neurol Soc. 2023. PMID: 38496825 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: percy ak. 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.
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: percy ak. 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.
MECP2 Variants in Males: More Common than Previously Appreciated.
Ananth A, Fu C, Neul JL, Benke T, Marsh E, Suter B, Ferdinandsen K, Skinner SA, Annese F, Percy AK. Ananth A, et al. Among authors: percy ak. Pediatr Neurol. 2024 Dec;161:263-267. doi: 10.1016/j.pediatrneurol.2024.09.022. Epub 2024 Sep 30. Pediatr Neurol. 2024. PMID: 39476560
217 results