Publicacions
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Fernández-Marmiesse A, Sánchez-Iglesias S, Darling A, O'Callaghan-Gordo M, Tonda R, Jou-Munoz C and Araújo-Vilar D.
A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY . 71: 161-165. Nº de cites: 10
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Muntoni F, Desguerre I, Guglieri M, Nascimento-Osorio A, Kirschner J, Tulinius M, Buccella F, Elfring G, Werner C, Schilling T, Trifillis P, Zhang O, Delage A, Santos CL and Mercuri E.
Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry
JOURNAL OF COMPARATIVE EFFECTIVENESS RESEARCH . 8(14): 1187-1200. Nº de cites: 22
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Vázquez-Fonseca L, Schaefer J, Navas-Enamorado I, Santos-Ocaña C, Hernández-Camacho JD, Guerra I, Cascajo MV, Sánchez-Cuesta A, Horvath Z, Siendones E, Jou-Munoz C, Casado-Rio M, Gutiérrez P, Brea-Calvo G, López-Lluch G, Fernández-Ayala DJM, Cortés-Rodríguez AB, Rodríguez-Aguilera JC, Matté C, Ribes A, Prieto-Soler SY, Dominguez-Del-Toro E, Francesco AD, Aon MA, Bernier M, Salviati L, Artuch-Iriberri R, Cabo R, Jackson S and Navas P.
ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency
Journal of Clinical Medicine . 8(9): . Nº de cites: 25
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Fernández-Simón E, Carrasco-Rozas A, Gallardo E, González-Quereda L, Alonso-Pérez J, Belmonte I, Pedrosa-Hernández I, Montiel E, Segovia S, Suárez-Calvet X, Llauger J, Mayos M, Illa I, Barba-Romero MA, Barcena J, Paradas C, Carzorla MR, Creus C, Coll-Cantí J, Díaz M, Domínguez C, Fernández-Torrón R, García-Antelo MJ, Grau JM, López de Munáin A, Martínez-García FA, Morgado Y, Moreno A, Morís G, Muñoz-Blanco MA, Nascimento-Osorio A, Parajuá-Pozo JL, Querol L, Rojas R, Robledo-Strauss A, Rojas-Marcos Í, Salazar JA, Usón M and Díaz-Manera J.
Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT
MOLECULAR GENETICS AND METABOLISM . 128(1-2): 129-136. Nº de cites: 7
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Nascimento-Osorio A, Medina Cantillo J, Camacho Salas A, Madruga Garrido M and Vilchez-Padilla JJ.
Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy
NEUROLOGIA . 34(7): 469-481. Nº de cites: 13
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Carrera-García L, Natera-de Benito D, Lleixà C, Ortez-Gonzalez CI, Colomer J, Nascimento-Osorio A, Saiz A, Dalmau J, Querol L and Armangue-Salvador T.
Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION . 6(5): . Nº de cites: 9
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Xiol-Viñas C, Vidal-Falcó S, Pascual-Alonso A, Blasco-Perez L, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, O'Callaghan-Gordo M, Pineda M and Armstrong-Moron J.
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.
SCIENTIFIC REPORTS . 9(1): 11983-11983. Nº de cites: 15
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Domínguez-González C, Madruga-Garrido M, Mavillard F, Garone C, Aguirre-Rodríguez FJ, Donati MA, Kleinsteuber K, Martí I, Martín-Hernández E, Morealejo-Aycinena JP, Munell F, Nascimento-Osorio A, Kalko SG, Sardina MD, Del Vayo CÁ, Serrano O, Long Y, Tu Y, Levin B, Thompson JLP, Engelstad K, Uddin J, Torres-Torronteras J, Jimenez-Mallebrera C, Martí R, Paradas C and Hirano M.
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy
ANNALS OF NEUROLOGY . 86(2): 293-303. Nº de cites: 72
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Frongia AL, Natera-de Benito D, Ortez-Gonzalez CI, Alarcón M, Borrás A, Medina J, Vigo-Morancho M, Padrós N, Moya O, Armas J, Carrera-García L, Exposito-Escudero JM, Cuadras-Palleja D, Bernal S, Martorell-Sampol L, Colomer J and Nascimento-Osorio A.
Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II
NEUROMUSCULAR DISORDERS . 29(7): 517-524. Nº de cites: 13
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Jumah MA, Muhaizea MA, Rumayyan AA, Saman AA, Shehri AA, Cupler E, Jan M, Madani AA, Fathalla W, Kashyape P, Kodavooru G, Thihli KA, Bastaki L, Megarbane A, Skrypnyk C, Zamani G, Tuffery-Giraud S, Urtizberea A and Ortez-Gonzalez CI.
Current management of Duchenne muscular dystrophy in the Middle East: expert report.
Neurodegenerative disease management . 9(3): 123-133. Nº de cites: 14