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Publicacions

  • Natera-de Benito D, Ortez-Gonzalez CI, Jou-Munoz C, Jimenez-Mallebrera C, Codina-Bergadà A, Carrera-García L, Expósito-Escudero J, Cesar S, Martorell-Sampol L, Gallano P, Gonzalez-Quereda L, Cuadras-Palleja D, Colomer J, Yubero-Siles D, Palau F and Nascimento-Osorio A.

    The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.

    PEDIATRIC NEUROLOGY . 115: 50-65. Nº de cites: 2

    [doi:10.1016/j.pediatrneurol.2020.11.002]

  • Pijuan J, Rodríguez-Sanz M, Natera-de Benito D, Ortez-Gonzalez CI, Altimir A, Osuna-Lopez M, Roura-Llerda M, Ugalde M, Van de Vondel L, Reina-Castillon J, Fons-Estupina C, Benítez R, Nascimento-Osorio A, Hoenicka J and Palau F.

    Translational Diagnostics: An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases.

    JOURNAL OF MOLECULAR DIAGNOSTICS . 23(1): 71-90. Nº de cites: 2

    [doi:10.1016/j.jmoldx.2020.10.006]

  • Fekete, I, Hall, S, Bohn, J, Paradis, AD, Schneller, S, Gleissner, E, Coratti, G, Bovis, F, Nascimento-Osorio A, Povedano, M, Sormani, MP, Vazquez, JF, Mercuri, E, Kirschner, J, Patel, SN and Volmer, T.

    STATISTICAL SOLUTIONS FOR ANALYTIC CHALLENGES IN REGISTRIES FOR HTA-PURPOSES

    VALUE IN HEALTH . 23: 692-692.

  • Garcia-Cazorla A, Verdura E, Julià-Palacios NA, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schlüter A, Urreizti R, Tarnowski JM, Gavrilova RH, Ruiz M, Rodríguez-Palmero A, Fourcade S, Cogné B, Besnard T, Vincent M, Bézieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch-Iriberri R, Cousin MA, Pujol A and SHMT2 Working Group.

    Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.

    ACTA NEUROPATHOLOGICA . 140(6): 971-975. Nº de cites: 5

    [doi:10.1007/s00401-020-02223-w]

  • Coratti G, Messina S, Lucibello S, Pera MC, Montes J, Pasternak A, Bovis F, Exposito Escudero J, Mazzone ES, Mayhew A, Glanzman AM, Young SD, Salazar R, Duong T, Muni Lofra R, De Sanctis R, Carnicella S, Milev E, Civitello M, Pane M, Scoto M, Bettolo CM, Antonaci L, Frongia A, Sframeli M, Vita GL, D'Amico A, Van Den Hauwe M, Albamonte E, Goemans N, Darras BT, Bertini E, Sansone V, Day J, Nascimento-Osorio A, Bruno C, Muntoni F, De Vivo DC, Finkel RS and Mercuri E.

    Clinical Variability in Spinal Muscular Atrophy Type III.

    ANNALS OF NEUROLOGY . 88(6): 1109-1117. Nº de cites: 9

    [doi:10.1002/ana.25900]

  • Milev MP, Stanga D, Schänzer A, Nascimento-Osorio A, Saint-Dic D, Ortez-Gonzalez CI, Natera-de Benito D, Barrios DG, Colomer J, Badosa-Gallego MC, Jou-Munoz C, Gallano P, Gonzalez-Quereda L, Töpf A, Johnson K, Straub V, Hahn A, Sacher M and Jimenez-Mallebrera C.

    Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein (vol 9, pg 14036, 2019)

    SCIENTIFIC REPORTS . 10(1): 19770-19770.

    [doi:10.1038/s41598-020-76436-0]

  • Coratti G, Lucibello S, Pera MC, Duong T, Muni Lofra R, Civitello M, D'Amico A, Goemans N, Darras BT, Bruno C, Sansone VA, Day J, Nascimento-Osorio A, Muntoni F, Montes J, Sframeli M, Finkel R, Mercuri E and ISMAC group.

    Gain and loss of abilities in type II SMA: A 12-month natural history study.

    NEUROMUSCULAR DISORDERS . 30(9): 765-771. Nº de cites: 4

    [doi:10.1016/j.nmd.2020.07.004]

  • Coratti G, Pera MC, Lucibello S, Montes J, Pasternak A, Mayhew A, Glanzman AM, Young SD, Pane M, Scoto M, Messina S, Goemans N, Nascimento-Osorio A, Pedemonte M, Sansone V, Bertini E, De Vivo DC, Finkel R, Muntoni F, Mercuri E and ISMAC group and collaborators..

    Age and baseline values predict 12 and 24-month functional changes in type 2 SMA.

    NEUROMUSCULAR DISORDERS . 30(9): 756-764. Nº de cites: 7

    [doi:10.1016/j.nmd.2020.07.005]

  • Alonso-Perez, Jorge, Gonzalez-Quereda, Lidia, Bello, Luca, Guglieri, Michela, Straub, Volker, Gallano, Pia, Semplicini, Claudio, Pegoraro, Elena, Zangaro, Vittoria, Nascimento-Osorio A, Ortez-Gonzalez CI, Comi, Giacomo Pietro, Ten Dam, Leroy, De Visser, Marianne, van der Kooi, A J, Garrido, Cristina, Santos, Manuela, Schara, Ulrike, GangfuSS, Andrea, Lokken, Nicoline, Storgaard, Jesper Helbo, Vissing, John, Schoser, Benedikt, Dekomien, Gabriele, Udd, Bjarne, Palmio, Johanna, D'Amico, Adele, Politano, Luisa, Nigro, Vincenzo, Bruno, Claudio, Panicucci, Chiara, Sarkozy, Anna, Abdel-Mannan, Omar, Alonso-Jimenez, Alicia, Claeys, Kristl G, Gomez-Andres, David, Munell, Francina, Costa-Comellas, Laura, Haberlova, Jana, Rohlenova, Marie, Elke, De Vos, De Bleecker, Jan L, Dominguez-Gonzalez, Cristina, Tasca, Giorgio, Weiss, Claudia, Deconinck, Nicolas, Fernandez-Torron, Roberto, Lopez de Munain, Adolfo, Camacho-Salas, Ana, Melegh, Bela, Hadzsiev, Kinga, Leonardis, Lea, Koritnik, Blaz, Garibaldi, Matteo, de Leon-Hernandez, Juan Carlos, Malfatti, Edoardo, Fraga-Bau, Arturo, Richard, Isabelle, Illa, Isabel and Diaz-Manera, Jordi.

    New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

    BRAIN . 143(9): 2696-2708. Nº de cites: 13

    [doi:10.1093/brain/awaa228]

  • 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.

    [doi:10.1016/j.nmd.2020.07.009]