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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: benke ta. Epilepsia. 2024 Oct;65(10):3064-3075. doi: 10.1111/epi.18094. Epub 2024 Aug 27. Epilepsia. 2024. PMID: 39190322
CDKL5 variants: Improving our understanding of a rare neurologic disorder.
Hector RD, Kalscheuer VM, Hennig F, Leonard H, Downs J, Clarke A, Benke TA, Armstrong J, Pineda M, Bailey MES, Cobb SR. Hector RD, et al. Among authors: benke ta. Neurol Genet. 2017 Dec 15;3(6):e200. doi: 10.1212/NXG.0000000000000200. eCollection 2017 Dec. Neurol Genet. 2017. PMID: 29264392 Free PMC article.
The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.
Neul JL, Benke TA, Marsh ED, Skinner SA, Merritt J, Lieberman DN, Standridge S, Feyma T, Heydemann P, Peters S, Ryther R, Jones M, Suter B, Kaufmann WE, Glaze DG, Percy AK. Neul JL, et al. Among authors: benke ta. Am J Med Genet B Neuropsychiatr Genet. 2019 Jan;180(1):55-67. doi: 10.1002/ajmg.b.32707. Epub 2018 Dec 7. Am J Med Genet B Neuropsychiatr Genet. 2019. PMID: 30536762 Free PMC article.
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
Peters SU, Fu C, Suter B, Marsh E, Benke TA, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Kaufmann WE, Glaze DG, Neul JL, Percy AK. Peters SU, et al. Among authors: benke ta. Clin Genet. 2019 May;95(5):575-581. doi: 10.1111/cge.13521. Epub 2019 Mar 15. Clin Genet. 2019. PMID: 30788845 Free PMC article.
Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.
Olson HE, Demarest ST, Pestana-Knight EM, Swanson LC, Iqbal S, Lal D, Leonard H, Cross JH, Devinsky O, Benke TA. Olson HE, et al. Among authors: benke ta. Pediatr Neurol. 2019 Aug;97:18-25. doi: 10.1016/j.pediatrneurol.2019.02.015. Epub 2019 Feb 23. Pediatr Neurol. 2019. PMID: 30928302 Free PMC article. Review.
Severity Assessment in CDKL5 Deficiency Disorder.
Demarest S, Pestana-Knight EM, Olson HE, Downs J, Marsh ED, Kaufmann WE, Partridge CA, Leonard H, Gwadry-Sridhar F, Frame KE, Cross JH, Chin RFM, Parikh S, Panzer A, Weisenberg J, Utley K, Jaksha A, Amin S, Khwaja O, Devinsky O, Neul JL, Percy AK, Benke TA. Demarest S, et al. Among authors: benke ta. Pediatr Neurol. 2019 Aug;97:38-42. doi: 10.1016/j.pediatrneurol.2019.03.017. Epub 2019 Mar 27. Pediatr Neurol. 2019. PMID: 31147226 Free PMC article. Review.
Consensus guidelines on managing Rett syndrome across the lifespan.
Fu C, Armstrong D, Marsh E, Lieberman D, Motil K, Witt R, Standridge S, Nues P, Lane J, Dinkel T, Coenraads M, von Hehn J, Jones M, Hale K, Suter B, Glaze D, Neul J, Percy A, Benke T. Fu C, et al. BMJ Paediatr Open. 2020 Sep 13;4(1):e000717. doi: 10.1136/bmjpo-2020-000717. eCollection 2020. BMJ Paediatr Open. 2020. PMID: 32984552 Free PMC article.
Multisystem comorbidities in classic Rett syndrome: a scoping review.
Fu C, Armstrong D, Marsh E, Lieberman D, Motil K, Witt R, Standridge S, Lane J, Dinkel T, Jones M, Hale K, Suter B, Glaze D, Neul J, Percy A, Benke T. Fu C, et al. BMJ Paediatr Open. 2020 Sep 22;4(1):e000731. doi: 10.1136/bmjpo-2020-000731. eCollection 2020. BMJ Paediatr Open. 2020. PMID: 33024833 Free PMC article. Review.
123 results