Publicaciones
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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 citas: 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 citas: 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 citas: 1
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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 citas: 2
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Trifunov S, Natera-de Benito D, Carrera-García L, Codina-Bergadà A, Exposito-Escudero JM, Ortez-Gonzalez CI, Medina J, Torres Alcala S, Bernal S, Alias L, Badosa-Gallego MC, Balsells S, Alcolea D, Nascimento-Osorio A and Jimenez-Mallebrera C.
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen
Journal of neuromuscular diseases . 10(4): 653-665. Nº de citas: 5
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Vázquez-Costa JF, Povedano M, Nascimento-Osorio A, Escribano AM, Garcia SK, Dominguez R, Exposito-Escudero JM, González L, Marco C, Medina J, Muelas N, Natera-de Benito D, Ñungo Garzón NC, Pitarch Castellano I, Sevilla T and Hervás D.
Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy
EUROPEAN JOURNAL OF NEUROLOGY . 29(12): 3666-3675. Nº de citas: 16
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Vázquez-Costa JF, Povedano M, Nascimento-Osorio A, Moreno Escribano A, Kapetanovic Garcia S, Dominguez R, Exposito-Escudero JM, González L, Marco C, Medina J, Muelas N, Natera-de Benito D, Ñungo Garzón NC, Pitarch Castellano I, Sevilla T and Hervás D.
Nusinersen in adult patients with 5q spinal muscular atrophy: A multicenter observational cohorts' study
EUROPEAN JOURNAL OF NEUROLOGY . 29(11): 3337-3346. Nº de citas: 17
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Jou-Munoz C, Nascimento-Osorio A, Codina-Bergadà A, Montoya J, López-Gallardo E, Emperador S, Ruiz-Pesini E, Montero-Sanchez R, Natera-de Benito D, Ortez-Gonzalez CI, Márquez-Pereira JM, Zelaya MV, Gutierrez-Mata A, Badosa-Gallego MC, Carrera-García L, Exposito-Escudero JM, Roldan-Molina M, Camara Y, Marti R, Ferrer I, Jimenez-Mallebrera C and Artuch-Iriberri R.
Pathological Features in Paediatric Patients with TK2 Deficiency
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(19): 11002. Nº de citas: 1
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Koehorst E, Odria R, Capó J, Núñez-Manchón J, Arbex A, Almendrote M, Linares-Pardo I, Natera-de Benito D, Saez V, Nascimento-Osorio A, Ortez-Gonzalez CI, Rubio MÁ, Díaz-Manera J, Alonso-Pérez J, Lucente G, Rodriguez-Palmero A, Ramos-Fransi A, Martínez-Piñeiro A, Nogales-Gadea G and Suelves M.
An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation
Biomedicines . 10(6): 1372. Nº de citas: 2
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Almici E, Chiappini V, López-Marquez A, Badosa-Gallego MC, Blázquez B, Caballero D, Montero J, Natera-de Benito D, Nascimento-Osorio A, Roldan-Molina M, Lagunas A, Jimenez-Mallebrera C and Samitier J.
Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies
Frontiers in Bioengineering and Biotechnology . 10: 851825-851825. Nº de citas: 3