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Page 1
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, García-Cazorla Á, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I. Xian J, et al. Among authors: geertjens l. Brain. 2022 Jun 3;145(5):1668-1683. doi: 10.1093/brain/awab327. Brain. 2022. PMID: 35190816 Free PMC article.
Corrigendum to "Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials" [Contemp. Clin. Trials Commun. 36 (2023)/ DOI: 10.1016/j.conctc.2023.101233].
Hollander BD, Rothuizen-Lindenschot M, Geertjens L, Vaz FM, Brands MM, Le HL, van Eeghen AM, van de Ven PM, Cornel MC, Jacobs BAW, Bruining H, van Karnebeek CD. Hollander BD, et al. Among authors: geertjens l. Contemp Clin Trials Commun. 2024 Feb 1;38:101264. doi: 10.1016/j.conctc.2024.101264. eCollection 2024 Apr. Contemp Clin Trials Commun. 2024. PMID: 38533474 Free PMC article.
Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials.
Müller AR, den Hollander B, van de Ven PM, Roes KCB, Geertjens L, Bruining H, van Karnebeek CDM, Jansen FE, de Wit MCY, Ten Hoopen LW, Rietman AB, Dierckx B, Wijburg FA, Boot E, Brands MMG, van Eeghen AM. Müller AR, et al. Among authors: geertjens l. BMC Psychiatry. 2024 Jan 4;24(1):23. doi: 10.1186/s12888-023-05422-3. BMC Psychiatry. 2024. PMID: 38177999 Free PMC article.
Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials.
den Hollander B, Rothuizen-Lindenschot M, Geertjens L, Vaz FM, Brands MM, Le HL, van Eeghen AM, van de Ven PM, Cornel MC, Jacobs BAW, Bruining H, van Karnebeek CD. den Hollander B, et al. Among authors: geertjens l. Contemp Clin Trials Commun. 2023 Nov 17;36:101233. doi: 10.1016/j.conctc.2023.101233. eCollection 2023 Dec. Contemp Clin Trials Commun. 2023. PMID: 38144875 Free PMC article.