Publicacions
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Nuria Díez Escuté, Arbelo E, Martínez-Barrios E, Patricia Cerralbo Martín, César-Díaz S, Cruzalegui JC, Chipa F, Fiol JV, Zschaeck-Luzardo I, Hernández-Cera C, Campuzano O and Sarquella-Brugada G.
Sex differences in long QT syndrome.
frontiers in cardiovascular medicine . 10: 1164028-1164028. Nº de cites: 5
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Codina-Bergadà A, Roldan-Molina M, Natera-de Benito D, Ortez-Gonzalez CI, Planas R, Matalonga L, Cuadras-Palleja D, Carrera-García L, Exposito-Escudero JM, Márquez-Pereira JM, Jimenez-Mallebrera C, M Porta J, Nascimento-Osorio A and Jou-Munoz C.
Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(7): .
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Nascimento-Osorio A, Bruels CC, Donkervoort S, Foley AR, Codina-Bergadà A, Milisenda JC, Estrella EA, Li C, Pijuan-Marquilles J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Exposito-Escudero JM, Yubero-Siles D, Martorell-Sampol L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez-Gonzalez CI, Palau F, Ghosh PS, Darras BT, Jou-Munoz C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB and Natera-de Benito D.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
ACTA NEUROPATHOLOGICA . 145(4): 479-496. Nº de cites: 2
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César-Díaz S, Coll, M, Fiol JV, Fernandez-Falgueras, A, Cruzalegui JC, Iglesias, A, Moll I, Perez-Serra, A, Martínez-Barrios E, Ferrer-Costa, C, del Olmo, B, Puigmulè, M, Alcalde, M, Lopez, L, Pico, F, Berrueco R, Brugada-Terradellas J, Zschaeck-Luzardo I, Natera-de Benito D, Carrera-García L, Exposito-Escudero JM, Ortez-Gonzalez CI, Nascimento-Osorio A, Brugada, R, Sarquella-Brugada G and Campuzano, O.
LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation
Frontiers in Genetics . 14: 1135438-1135438. Nº de cites: 4
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César-Díaz S, Campuzano O, Cruzalegui JC, Fiol JV, Moll I, Martínez-Barrios E, Zschaeck-Luzardo I, Natera-de Benito D, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Berrueco R, Bautista-Rodriguez C, Dabaj I, Gómez García-de-la-Banda M, Quijano-Roy S, Brugada-Terradellas J, Nascimento-Osorio A and Sarquella-Brugada G.
Characterization of cardiac involvement in children with LMNA-related muscular dystrophy
Frontiers in Cell and Developmental Biology . 11: 1142937-1142937. Nº de cites: 3
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Natera-de Benito D, Olival J, Garcia-Cabau C, Jou-Munoz C, Roldan-Molina M, Codina-Bergadà A, Exposito-Escudero JM, Batlle C, Carrera-García L, Ortez-Gonzalez CI, Salvatella X, Palau F, Nascimento-Osorio A and Hoenicka J.
Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants
Annals of Clinical and Translational Neurology . 10(3): 408-425. Nº de cites: 2
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Rodríguez Cruz PM, Ravenscroft G, Natera-de Benito D, Carr A, Manzur A, Liu WW, Vella NR, Jericó I, Gonzalez-Quereda L, Gallano P, Montalto SA, Davis MR, Lamont PJ, Laing NG, Bourque P, Nascimento-Osorio A, Muntoni F, Polavarapu K, Lochmüller H, Palace J and Beeson D.
A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1
NEUROMUSCULAR DISORDERS . 33(2): 161-168. Nº de cites: 2
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Vázquez-Costa JF, Branas-Pampillón M, Medina J, Povedano M, Pitarch-Castellano I, López-Lobato M, Fernández-Ramos JA, Lafuente-Hidalgo M, Rojas-García R, Caballero-Caballero JM, Málaga I, Eirís-Puñal J, De Lemus M, Cattinari MG, Cabello-Moruno R, Díaz-Abós P, Sánchez-Menéndez V, Rebollo P, Maurino J and Madruga-Garrido M.
Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study
Neurology and Therapy . 12(1): 89-105. Nº de cites: 8
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García-García AP, Fortuny-Guasch C, Fumadó V, Jordán-García I, Ruiz-López L, González-Navarro EA, Egri N, Esteve-Solé A, Luo Y, Vlagea A, Manuel Monsonis Cabedo, Launes-Montana C, Soler-García a, Codina-Bergadà A, Juan-Otero M, Pascal-Capdevila R, Deyà-Martinez A and Alsina L.
Acute and long-term immune responses to SARS-CoV-2 infection in unvaccinated children and young adults with inborn errors of immunity
FRONTIERS IN IMMUNOLOGY . 14: 1084630-1084630. Nº de cites: 2
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El-Hassar, L, Amara, A, Sanson, B, Lacatus, O, Belhouchet, AA, Kroneman, M, Claeys, K, Plancon, JP, Rodolico, C, Primiano, G, Trojsi, F, Filosto, M, Mongini, TE, Bortolani, S, Monforte, M, Carraro, E, Maggi, L, Ricci, F, Silani, V, Orsucci, D, Créange, A, Péréon, Y, Stojkovic, T, van der Beek, NAME, Toscano, A, Pareyson, D, Attarian, S, Van den Bergh, PYK, Remiche, G, Hoeijmakers, JGJ, Badrising, U, Voermans, NC, Kaindl, AM, Schara-Schmidt, U, Schoser, B, Gazzerro, E, Haberlová, J, Vohánka, S, Pál, E, Molnar, MJ, Leonardis, L, Tournev, IL, Nascimento-Osorio A, Olivé, M, Muelas, N, Alonso-Perez, J, Plá, F, de Visser, M, Siciliano, G and Sacconi, S.
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey
Journal of neuromuscular diseases . 10(2): 173-184. Nº de cites: 3