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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: weisenberg jl. Am J Med Genet A. 2024 Aug 28:e63843. doi: 10.1002/ajmg.a.63843. Online ahead of print. Am J Med Genet A. 2024. PMID: 39205479
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: weisenberg j. Epilepsia. 2024 Oct;65(10):3064-3075. doi: 10.1111/epi.18094. Epub 2024 Aug 27. Epilepsia. 2024. PMID: 39190322
The Heart of Rett Syndrome: A Quantitative Analysis of Cardiac Repolarization.
Collins MP, Johnson MC, Ryther RC, Weisenberg JL, Heydemann PT, Buhrfiend CM, Scott WA, Armstrong DMM, Kern HM, Nguyen HH. Collins MP, et al. Among authors: weisenberg jl. Cardiol Res. 2023 Dec;14(6):446-452. doi: 10.14740/cr1580. Epub 2023 Nov 3. Cardiol Res. 2023. PMID: 38187509 Free PMC article.
The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder.
Ziniel SI, Mackie A, Saldaris J, Leonard H, Jacoby P, Marsh ED, Suter B, Pestana-Knight E, Olson HE, Price D, Weisenberg J, Rajaraman R, VanderVeen G, Benke TA, Downs J, Demarest S. Ziniel SI, et al. Among authors: weisenberg j. Epilepsy Res. 2023 Nov;197:107231. doi: 10.1016/j.eplepsyres.2023.107231. Epub 2023 Sep 20. Epilepsy Res. 2023. PMID: 37751639 Free PMC article.
52 results