Publications
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Garone C, Taylor RW, Nascimento-Osorio A, Poulton J, Fratter C, Dominguez-Gonzalez C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Camara Y, Madruga-Garrido M, Dominguez-Carral J, Ortez-Gonzalez CI, Emperador S, Montoya C, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S and Hirano M.
Retrospective natural history of thymidine kinase 2 deficiency
JOURNAL OF MEDICAL GENETICS . 55(8): 515-521. Number of citations: 58
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Deyà-Martinez A, Esteve-Solé A, Vélez-Tirado N, Celis-Passini V, Costa-Colomer J, Cols M, Jou-Munoz C, Vlagea A, Plaza-Martín AM, Juan-Otero M and Alsina L.
Sirolimus as an alternative treatment in patients with granulomatous-lymphocytic lung disease and humoral immunodeficiency with impaired regulatory T cells
PEDIATRIC ALLERGY AND IMMUNOLOGY . 29(4): 425-432. Number of citations: 25
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Ulate-Campos A, Petanas-Argemi J, Rebollo M, Jou-Munoz C, Sierra-March C, Armstrong-Moron J and Fons-Estupina C.
X-linked adrenoleukodystrophy with an atypical radiological pattern
REVISTA DE NEUROLOGIA . 66(7): 237-240. Number of citations: 4
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Nascimento-Osorio A and Villalobos-Pinto E.
Nuevo fenotipo de la enfermedad de Pompe infantil.
REVISTA DE NEUROLOGIA . 66(4): 121-124. Number of citations: 1
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Soria Gondek A, Julià V, Jou-Munoz C, Salvador-Hernandez H, Rovira-Zurriaga C and Tarrado X.
Adolescent Hydrocele Carrying a Surprise: A Case of Papillary Cystadenoma of the Epididymis
UROLOGY . 112: 172-175. Number of citations: 2
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Natera-de Benito D, Töpf A, Vilchez JJ, González-Quereda L, Domínguez-Carral J, Díaz-Manera J, Ortez-Gonzalez CI, Bestué M, Gallano P, Dusl M, Abicht A, Müller JS, Senderek J, García-Ribes A, Muelas N, Evangelista T, Azuma Y, McMacken G, Paipa Merchan A, Rodríguez Cruz PM, Camacho Díaz JA, Jiménez E, Miranda-Herrero MC, Santana-Artiles A, García-Campos O, Dominguez-Rubio R, Olivé M, Colomer J, Beeson D, Lochmüller H and Nascimento-Osorio A.
Molecular characterization of congenital myasthenic syndromes in Spain
NEUROMUSCULAR DISORDERS . 27(12): 1087-1098. Number of citations: 43
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Casas-Alba D, Fernández de Sevilla-Estrach M, Valero-Rello A, Fortuny-Guasch C, García-García JJ, Ortez-Gonzalez CI, Muchart-Lopez J, Armangue-Salvador T, Jordán-García I, Luaces-Cubells C, Barrabeig I, González-Sanz R, Cabrerizo M, Munoz-Almagro C and Launes-Montana C.
Outbreak of brainstem encephalitis associated with enterovirus-A71 in Catalonia, Spain (2016): a clinical observational study in a children's reference centre in Catalonia
CLINICAL MICROBIOLOGY AND INFECTION . 23(11): 874-881. Number of citations: 49
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Vidal-Falcó S, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, Blasco-Perez L, Trotta JR, Derdak S, O'Callaghan-Gordo M, Garcia-Cazorla A, Pineda M and Armstrong-Moron J.
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
SCIENTIFIC REPORTS . 7(1): 12288-12288. Number of citations: 18
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McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Nascimento-Osorio A, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E, Clinical Evaluator Training Group and ACT DMD Study Group.
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Lancet . 390(10101): 1489-1498. Number of citations: 301
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Bestue-Cardiel M and Natera-de Benito D.
Current status of congenital myasthenic syndromes
REVISTA DE NEUROLOGIA . 65(4): 161-176. Number of citations: 4