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113 results

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Page 1
Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia.
Swanson MA, Jiang H, Busquet N, Carlsen J, Brindley C, Benke TA, Van Hove RA, Friederich MW, MacLean KN, Mesches MH, Van Hove JLK. Swanson MA, et al. Among authors: benke ta. bioRxiv [Preprint]. 2024 Mar 29:2024.03.26.586818. doi: 10.1101/2024.03.26.586818. bioRxiv. 2024. Update in: J Inherit Metab Dis. 2024 Sep;47(5):971-990. doi: 10.1002/jimd.12755 PMID: 38586005 Free PMC article. Updated. Preprint.
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: benke ta. Trials. 2024 Dec 21;25(1):845. doi: 10.1186/s13063-024-08678-6. Trials. 2024. PMID: 39709426 Free PMC article.
Early life seizures and olfactory communication in rats.
Bigelow LJ, Pope EK, Jarvis JHM, Fiset C, Le Maistre-Matthys C, Benke TA, Bernard PB. Bigelow LJ, et al. Among authors: benke ta. Epilepsia. 2024 Oct;65(10):3091-3099. doi: 10.1111/epi.18099. Epub 2024 Sep 2. Epilepsia. 2024. PMID: 39221936
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: benke ta. 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: benke ta. 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: benke ta. 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: benke ta. 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.
113 results