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Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.
EBioMedicine. 2023 Dec;98:104855. doi: 10.1016/j.ebiom.2023.104855. Epub 2023 Oct 28.
EBioMedicine. 2023.
PMID: 38251463
Free PMC article.
Clinical and Genetic Characteristics in Young, Glucocorticoid-Naive Boys With Duchenne Muscular Dystrophy.
Schiava M, Amos R, VanRuiten H, McDermott MP, Martens WB, Gregory S, Mayhew A, McColl E, Tawil R, Willis T, Bushby K, Griggs RC, Guglieri M; FOR-DMD Investigators of the Muscle Study Group.
Schiava M, et al.
Neurology. 2022 Jan 24;98(4):e390-e401. doi: 10.1212/WNL.0000000000013122.
Neurology. 2022.
PMID: 34857536
Free PMC article.
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Improving recognition of Duchenne muscular dystrophy: a retrospective case note review.
van Ruiten HJ, Straub V, Bushby K, Guglieri M.
van Ruiten HJ, et al.
Arch Dis Child. 2014 Dec;99(12):1074-7. doi: 10.1136/archdischild-2014-306366. Epub 2014 Sep 3.
Arch Dis Child. 2014.
PMID: 25187493
Free PMC article.
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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.
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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.
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Why are some patients with Duchenne muscular dystrophy dying young: An analysis of causes of death in North East England.
Van Ruiten HJ, Marini Bettolo C, Cheetham T, Eagle M, Lochmuller H, Straub V, Bushby K, Guglieri M.
Van Ruiten HJ, et al.
Eur J Paediatr Neurol. 2016 Nov;20(6):904-909. doi: 10.1016/j.ejpn.2016.07.020. Epub 2016 Jul 30.
Eur J Paediatr Neurol. 2016.
PMID: 27524390
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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.
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