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Page 1
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: desmet n. 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
Single-cell analysis of the nervous system at small and large scales with instant partitions.
Frazel PW, Fricano-Kugler K, May-Zhang AA, O'Dea MR, Prakash P, Desmet NM, Lee H, Meltzer RH, Fontanez KM, Hettige P, Agam Y, Lithwick-Yanai G, Lipson D, Luikart BW, Dasen JD, Liddelow SA. Frazel PW, et al. Among authors: desmet nm. bioRxiv [Preprint]. 2023 Jul 18:2023.07.14.549051. doi: 10.1101/2023.07.14.549051. bioRxiv. 2023. PMID: 37503160 Free PMC article. Preprint.
Pharmacological evidence for the concept of spare glutamate transporters.
Belo do Nascimento I, Damblon J, Ingelbrecht C, Goursaud S, Massart M, Dumont A, Desmet N, Hermans E. Belo do Nascimento I, et al. Among authors: desmet n. Neurochem Int. 2021 Oct;149:105142. doi: 10.1016/j.neuint.2021.105142. Epub 2021 Jul 24. Neurochem Int. 2021. PMID: 34314789
30 results