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Clinical and Genetic Characteristics in Young, Glucocorticoid-Naive Boys With Duchenne Muscular Dystrophy.
Neurology. 2022 Jan 24;98(4):e390-e401. doi: 10.1212/WNL.0000000000013122.
Neurology. 2022.
PMID: 34857536
Free PMC article.
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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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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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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Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Speed C, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Griggs RC; FOR-DMD Investigators of the Muscle Study Group; Straub V, van Ruiten H, Childs AM, Ciafaloni E, Shieh PB, Spinty S, Maggi L, Baranello G, Butterfield RJ, Horrocks IA, Roper H, Alhaswani Z, Flanigan KM, Kuntz NL, Manzur A, Darras BT, Kang PB, Morrison L, Krzesniak-Swinarska M, Mah JK, Mongini TE, Ricci F, von der Hagen M, Finkel RS, O'Reardon K, Wicklund M, Kumar A, McDonald CM, Han JJ, Joyce N, Henricson EK, Schara-Schmidt U, Gangfuss A, Wilichowski E, Barohn RJ, Statland JM, Campbell C, Vita G, Vita GL, Howard JF Jr, Hughes I, McMillan HJ, Pegoraro E, Bello L, Burnette WB, Thangarajh M, Chang T.
Guglieri M, et al.
JAMA. 2022 Apr 19;327(15):1456-1468. doi: 10.1001/jama.2022.4315.
JAMA. 2022.
PMID: 35381069
Free PMC article.
Clinical Trial.
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Duchenne muscular dystrophy.
Fox H, Millington L, Mahabeer I, van Ruiten H.
Fox H, et al.
BMJ. 2020 Jan 23;368:l7012. doi: 10.1136/bmj.l7012.
BMJ. 2020.
PMID: 31974125
No abstract available.
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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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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.
EBioMedicine. 2023 Dec;98:104855. doi: 10.1016/j.ebiom.2023.104855. Epub 2023 Oct 28.
EBioMedicine. 2023.
PMID: 38251463
Free PMC article.
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