Publicacions
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Bobadilla-Quesada EJ, Natera-de Benito D, Carrera-García L, Ortez-Gonzalez CI, Exposito-Escudero J, Jimenez-Mallebrera C, Jou-Munoz C, Codina-Bergadà A, Joan R. Corbera Torredeflò, Moya O, Saez V, Gonzalez-Quereda L, Gallano P, Colomer J, Cuadras-Palleja D, Medina J, Yoldi ME and Nascimento-Osorio A.
Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome
NEUROMUSCULAR DISORDERS . 30(9): 719-726. Nº de cites: 3
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Andermatten JA, Candela-Cantó SA, Jou-Munoz C, Aparicio J, Muchart-Lopez J, Martinez OC, Rumià J and Hinojosa J.
Gliomatosis cerebri and Rasmussen's encephalitis: Two different entities causing refractory epilepsy. Comparison through two clinical cases
Neurochirurgie . 66(4): 266-269.
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Nunes Dias L, Candela-Cantó SA, Jou-Munoz C, Aparicio J, García-García S and Mena-Bernal JH.
Multinodular and vacuolating neuronal tumor associated with focal cortical dysplasia in a child with refractory epilepsy: a case report and brief review of literature
CHILDS NERVOUS SYSTEM . 36(7): 1557-1561. Nº de cites: 13
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Dominguez-Gonzalez C, Badosa C, Madruga-Garrido M, Martí I, Paradas C, Ortez-Gonzalez CI, Diaz-Manera J, Berardo A, Alonso-Pérez J, Trifunov S, Cuadras-Palleja D, Kalko-Witruk SG, Blázquez-Bermejo C, Cámara Y, Martí R, Mavillard F, Martin MA, Montoya C, Ruiz-Pesini E, Villarroya-Terrade J, Montero-Sanchez R, Villarroya-Gombau F, Artuch-Iriberri R, Hirano M, Nascimento-Osorio A and Jimenez-Mallebrera C.
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy
SCIENTIFIC REPORTS . 10(1): 10111-10111. Nº de cites: 25
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Garrido-Pérez N, Vela-Sebastián A, López-Gallardo E, Emperador S, Iglesias-Jimenez E, Meade P, Jimenez-Mallebrera C, Montoya C, Bayona-Bafaluy MP and Ruiz-Pesini E.
Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 21(9): . Nº de cites: 12
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Gonzalez-Quereda L, Rodriguez MJ, Diaz-Manera J, Alonso-Perez J, Gallardo E, Nascimento-Osorio A, Ortez-Gonzalez CI, Benito DN, Olive-Valls M, Gonzalez-Mera L, Munain AL, Zulaica M, Poza JJ, Jerico I, Torne L, Riera P, Milisenda J, Sanchez A, Garrabou G, Llano I, Madruga-Garrido M and Gallano P.
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain
GENES . 11(5): . Nº de cites: 40
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Natera-de Benito D, Muchart-Lopez J, Debora Coritza Itzep Perez, Ortez-Gonzalez CI, González-Quereda L, Gallano P, Ramírez-Camacho A, Aparicio J, Domínguez-Carral J, Carrera-García L, Exposito-Escudero JM, Pardo Cardozo N, Cuadras-Palleja D, Codina-Bergadà A, Jou-Munoz C, Jimenez-Mallebrera C, Palau F, Colomer J, Arzimanoglou A, Nascimento-Osorio A and San Antonio-Arce MV.
Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization
Epilepsia . 61(5): 971-983. Nº de cites: 19
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Trifunov S, Natera-de Benito D, Exposito Escudero JM, Ortez-Gonzalez CI, Medina J, Cuadras-Palleja D, Badosa C, Carrera L, Nascimento-Osorio A and Jimenez-Mallebrera C.
Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy
FRONTIERS IN NEUROLOGY . 11: 304-304. Nº de cites: 15
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Mercuri E, Muntoni F, Nascimento-Osorio A, Tulinius M, Buccella F, Morgenroth LP, Gordish-Dressman H, Jiang J, Trifillis P, Zhu J, Kristensen A, Santos CL, Henricson EK, McDonald CM, Desguerre I, STRIDE and CINRG Duchenne Natural History Investigators.
Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study
JOURNAL OF COMPARATIVE EFFECTIVENESS RESEARCH . 9(5): 341-360. Nº de cites: 76
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Casas-Alba D, Clotet J, Inarejos E, Jou-Munoz C, Fons-Estupina C and Molera C.
Broadening the spectrum of neonatal hemochromatosis
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE . 33(6): 1024-1026. Nº de cites: 6