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Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.
Lyu H, Boßelmann CM, Johannesen KM, Koko M, Ortigoza-Escobar JD, Aguilera-Albesa S, Garcia-Navas Núñez D, Linnankivi T, Gaily E, van Ruiten HJA, Richardson R, Betzler C, Horvath G, Brilstra E, Geerdink N, Orsucci D, Tessa A, Gardella E, Fleszar Z, Schöls L, Lerche H, Møller RS, Liu Y. Lyu H, et al. Among authors: van ruiten hja. EBioMedicine. 2023 Dec;98:104855. doi: 10.1016/j.ebiom.2023.104855. Epub 2023 Oct 28. EBioMedicine. 2023. PMID: 38251463 Free PMC article.
The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.
Ng YS, van Ruiten H, Lai HM, Scott R, Ramesh V, Horridge K, Taylor RW, Turnbull DM, Gorman GS, McFarland R, Baker MR. Ng YS, et al. Epilepsia Open. 2018 Jan 11;3(1):103-108. doi: 10.1002/epi4.12094. eCollection 2018 Mar. Epilepsia Open. 2018. PMID: 29588995 Free PMC article.
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial.
Mercuri E, Muntoni F, Baranello G, Masson R, Boespflug-Tanguy O, Bruno C, Corti S, Daron A, Deconinck N, Servais L, Straub V, Ouyang H, Chand D, Tauscher-Wisniewski S, Mendonca N, Lavrov A; STR1VE-EU study group. Mercuri E, et al. Lancet Neurol. 2021 Oct;20(10):832-841. doi: 10.1016/S1474-4422(21)00251-9. Lancet Neurol. 2021. PMID: 34536405 Clinical Trial.
Alveolar PCO2 oscillations and ventilation at sea level and at high altitude.
Collier DJ, Nickol AH, Milledge JS, van Ruiten HJ, Collier CJ, Swenson ER, Datta A, Wolff CB. Collier DJ, et al. J Appl Physiol (1985). 2008 Feb;104(2):404-15. doi: 10.1152/japplphysiol.00166.2007. Epub 2007 Oct 25. J Appl Physiol (1985). 2008. PMID: 17962582 Free article. Clinical Trial.