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132 results

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Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo-controlled clinical trial.
Sullivan J, Lagae L, Cross JH, Devinsky O, Guerrini R, Knupp KG, Laux L, Nikanorova M, Polster T, Talwar D, Ceulemans B, Nabbout R, Farfel GM, Galer BS, Gammaitoni AR, Lock M, Agarwal A, Scheffer IE; FAiRE DS Study Group. Sullivan J, et al. Epilepsia. 2023 Oct;64(10):2653-2666. doi: 10.1111/epi.17737. Epub 2023 Aug 17. Epilepsia. 2023. PMID: 37543865
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: marsh ed. Trials. 2024 Dec 21;25(1):845. doi: 10.1186/s13063-024-08678-6. Trials. 2024. PMID: 39709426 Free PMC article.
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: marsh ed. 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
Clinical Features and Disease Progression in Older Individuals with Rett Syndrome.
Neul JL, Benke TA, Marsh ED, Suter B, Fu C, Ryther RC, Skinner SA, Lieberman DN, Feyma T, Beisang A, Heydemann P, Peters SU, Ananth A, Percy AK. Neul JL, et al. Among authors: marsh ed. Genes (Basel). 2024 Aug 22;15(8):1107. doi: 10.3390/genes15081107. Genes (Basel). 2024. PMID: 39202466 Free PMC article.
Psychometric evaluation of clinician- and caregiver-reported clinical severity assessments for individuals with CDKL5 deficiency disorder.
Saldaris JM, Jacoby P, Downs J, Marsh ED, Leonard H, Pestana-Knight E, Rajaraman R, Weisenberg J, Suter B, Olson HE, Price D, Hong W, Prange E, Benke TA, Demarest S. Saldaris JM, et al. Among authors: marsh ed. Epilepsia. 2024 Oct;65(10):3064-3075. doi: 10.1111/epi.18094. Epub 2024 Aug 27. Epilepsia. 2024. PMID: 39190322
Parent-reported outcome measures evaluating communication in individuals with rare neurodevelopmental disorders: A systematic review.
Saldaris JM, Ayalde J, Kankanange S, Keeley J, Leonard H, Jacoby P, Marsh ED, Benke TA, Demarest ST, Downs J. Saldaris JM, et al. Among authors: marsh ed. Int J Lang Commun Disord. 2024 Nov-Dec;59(6):2528-2553. doi: 10.1111/1460-6984.13100. Epub 2024 Aug 14. Int J Lang Commun Disord. 2024. PMID: 39141588 Free PMC article. Review.
132 results