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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. 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.
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. PMID: 38586005 Free PMC article. Preprint.
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.
Xu Y, Song R, Perszyk RE, Chen W, Kim S, Park KL, Allen JP, Nocilla KA, Zhang J, XiangWei W, Tankovic A, McDaniels ED, Sheikh R, Mizu RK, Karamchandani MM, Hu C, Kusumoto H, Pecha J, Cappuccio G, Gaitanis J, Sullivan J, Shashi V, Petrovski S, Jauss RT, Lee HK, Bozarth X, Lynch DR, Helbig I, Pierson TM, Boerkoel CF, Myers SJ, Lemke JR, Benke TA, Yuan H, Traynelis SF. Xu Y, et al. Among authors: benke ta. Cell Mol Life Sci. 2024 Mar 28;81(1):153. doi: 10.1007/s00018-023-05069-z. Cell Mol Life Sci. 2024. PMID: 38538865 Free PMC article.
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: benke ta. 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
Clinical and functional consequences of GRIA variants in patients with neurological diseases.
XiangWei W, Perszyk RE, Liu N, Xu Y, Bhattacharya S, Shaulsky GH, Smith-Hicks C, Fatemi A, Fry AE, Chandler K, Wang T, Vogt J, Cohen JS, Paciorkowski AR, Poduri A, Zhang Y, Wang S, Wang Y, Zhai Q, Fang F, Leng J, Garber K, Myers SJ, Jauss RT, Park KL, Benke TA, Lemke JR, Yuan H, Jiang Y, Traynelis SF. XiangWei W, et al. Among authors: benke ta. Cell Mol Life Sci. 2023 Nov 3;80(11):345. doi: 10.1007/s00018-023-04991-6. Cell Mol Life Sci. 2023. PMID: 37921875 Free PMC article.
99 results