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Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing.
Abbott M, Angione K, Forbes E, Stoecker M, Saenz M, Neul JL, Marsh ED, Skinner SA, Percy AK, Benke TA. Abbott M, et al. Among authors: marsh ed. Am J Med Genet A. 2024 May 22:e63725. doi: 10.1002/ajmg.a.63725. Online ahead of print. Am J Med Genet A. 2024. PMID: 38775384
CDKL5 Deficiency Disorder.
Benke TA, Demarest S, Angione K, Downs J, Leonard H, Saldaris J, Marsh ED, Olson H, Haviland I. Benke TA, et al. Among authors: marsh ed. 2024 Apr 11. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2024 Apr 11. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 38603524 Free Books & Documents. Review.
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: marsh ed. 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
Long-term treatment with ganaxolone for seizures associated with cyclin-dependent kinase-like 5 deficiency disorder: Two-year open-label extension follow-up.
Olson HE, Amin S, Bahi-Buisson N, Devinsky O, Marsh ED, Pestana-Knight E, Rajaraman RR, Aimetti AA, Rybak E, Kong F, Miller I, Hulihan J, Demarest S. Olson HE, et al. Among authors: marsh ed. Epilepsia. 2024 Jan;65(1):37-45. doi: 10.1111/epi.17826. Epub 2023 Nov 29. Epilepsia. 2024. PMID: 37950390 Clinical Trial.
122 results