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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. 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.
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.
Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder.
Olson HE, Daniels CI, Haviland I, Swanson LC, Greene CA, Denny AMM, Demarest ST, Pestana-Knight E, Zhang X, Moosa AN, Fidell A, Weisenberg JL, Suter B, Fu C, Neul JL, Percy AK, Marsh ED, Benke TA, Poduri A. Olson HE, et al. Among authors: weisenberg jl. J Neurodev Disord. 2021 Sep 16;13(1):40. doi: 10.1186/s11689-021-09384-z. J Neurodev Disord. 2021. PMID: 34530725 Free PMC article.
Gain-of-function HCN2 variants in genetic epilepsy.
Li M, Maljevic S, Phillips AM, Petrovski S, Hildebrand MS, Burgess R, Mount T, Zara F, Striano P, Schubert J, Thiele H, Nürnberg P, Wong M, Weisenberg JL, Thio LL, Lerche H, Scheffer IE, Berkovic SF, Petrou S, Reid CA. Li M, et al. Among authors: weisenberg jl. Hum Mutat. 2018 Feb;39(2):202-209. doi: 10.1002/humu.23357. Epub 2017 Nov 13. Hum Mutat. 2018. PMID: 29064616
21 results