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CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability.
Hommersom MP, Doorn N, Puvogel S, Lewerissa EI, Mordelt A, Ciptasari U, Kampshoff F, Dillen L, van Beusekom E, Oudakker A, Kogo N, Dolga AM, Frega M, Schubert D, van de Warrenburg BPC, Nadif Kasri N, van Bokhoven H. Hommersom MP, et al. Among authors: doorn n. Brain. 2024 Oct 26:awae330. doi: 10.1093/brain/awae330. Online ahead of print. Brain. 2024. PMID: 39460936
Inter-device reproducibility of transcutaneous bilirubin meters.
Dam-Vervloet AJ, van Erk MD, Doorn N, Lip SGJ, Timmermans NA, Vanwinsen L, de Boer FA, van Straaten HLM, Bosschaart N. Dam-Vervloet AJ, et al. Among authors: doorn n. Pediatr Res. 2021 Mar;89(4):770-775. doi: 10.1038/s41390-020-01118-6. Epub 2020 Sep 12. Pediatr Res. 2021. PMID: 32919392 Free PMC article.
Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales.
Adams L, Selvanathan A, Batten KJ, van Doorn N, Thompson S, Mitchell A, Sampaio H, Dalkeith T, Russell J, Ellaway CJ, Farrar M, Broderick C, Bhattacharya K. Adams L, et al. Among authors: van doorn n. JIMD Rep. 2023 Aug 9;64(5):327-336. doi: 10.1002/jmd2.12389. eCollection 2023 Sep. JIMD Rep. 2023. PMID: 37701325 Free PMC article.
62 results