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Availability of Services and Caregiver Burden: Supporting Individuals With Neurogenetic Conditions During the COVID-19 Pandemic.
Kowanda M, Cartner L, Kentros C, Geltzeiler AR, Singer KE, Weaver WC, Lehman CD, Smith S, Smith RS, Walsh LK, Diehl K, Nagpal N, Brooks E, Mebane CM, Wilson AL, Marvin AR, White LC, Law JK, Jensen W, Daniels AM, Tjernagel J, Snyder LG, Taylor CM, Chung WK. Kowanda M, et al. Among authors: walsh lk. J Child Neurol. 2021 Aug;36(9):760-767. doi: 10.1177/08830738211001209. Epub 2021 Apr 8. J Child Neurol. 2021. PMID: 33829918 Free PMC article.
Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.
DeSpenza T Jr, Singh A, Allington G, Zhao S, Lee J, Kiziltug E, Prina ML, Desmet N, Dang HQ, Fields J, Nelson-Williams C, Zhang J, Mekbib KY, Dennis E, Mehta NH, Duy PQ, Shimelis H, Walsh LK, Marlier A, Deniz E, Lake EMR, Constable RT, Hoffman EJ, Lifton RP, Gulledge A, Fiering S, Moreno-De-Luca A, Haider S, Alper SL, Jin SC, Kahle KT, Luikart BW. DeSpenza T Jr, et al. Among authors: walsh lk. Proc Natl Acad Sci U S A. 2024 Jul 2;121(27):e2314702121. doi: 10.1073/pnas.2314702121. Epub 2024 Jun 25. Proc Natl Acad Sci U S A. 2024. PMID: 38916997
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.
Singh AK, Allington G, Viviano S, McGee S, Kiziltug E, Ma S, Zhao S, Mekbib KY, Shohfi JP, Duy PQ, DeSpenza T Jr, Furey CG, Reeves BC, Smith H, Sousa AMM, Cherskov A, Allocco A, Nelson-Williams C, Haider S, Rizvi SRA, Alper SL, Sestan N, Shimelis H, Walsh LK, Lifton RP, Moreno-De-Luca A, Jin SC, Kruszka P, Deniz E, Kahle KT. Singh AK, et al. Among authors: walsh lk. Brain. 2024 Apr 4;147(4):1553-1570. doi: 10.1093/brain/awad405. Brain. 2024. PMID: 38128548
35 results