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Publicacions

  • Yubero-Siles D, Natera-de Benito D, Pijuan-Marquilles J, Armstrong-Moron J, Martorell-Sampol L, Fernandez-Isern G, Maynou-Fernández J, Jou-Munoz C, Roldan-Molina M, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F.

    The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(8): 4274. Nº de cites: 4

    [doi:10.3390/ijms22084274]

  • Natera-de Benito D, Foley AR, Domínguez-González C, Ortez-Gonzalez CI, Jain M, Mebrahtu A, Donkervoort S, Hu Y, Fink M, Yun P, Ogata T, Medina J, Vigo-Morancho M, Meilleur KG, Leach ME, Dastgir J, Díaz-Manera J, Carrera-García L, Exposito-Escudero JM, Macarena Maria Alejandra Alarcón Cornejo, Cuadras-Palleja D, Montiel-Morillo E, Milisenda JC, Dominguez-Rubio R, Olivé M, Colomer J, Jou-Munoz C, Jimenez-Mallebrera C, Bönnemann CG and Nascimento-Osorio A.

    Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies

    Neurology . 96(10): 1413-1424. Nº de cites: 4

    [doi:10.1212/WNL.0000000000011499]

  • Carrera-García L, Muchart-Lopez J, Lazaro JJ, Exposito-Escudero JM, Cuadras-Palleja D, Medina J, Bosch de Basea M, Colomer J, Jimenez-Mallebrera C, Ortez-Gonzalez CI, Natera-de Benito D and Nascimento-Osorio A.

    Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 31: 92-101. Nº de cites: 2

    [doi:10.1016/j.ejpn.2021.02.009]

  • Natera-de Benito D, Ortez-Gonzalez CI, Jou-Munoz C, Jimenez-Mallebrera C, Codina-Bergadà A, Carrera-García L, Exposito-Escudero JM, César-Díaz 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-Marquilles 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: 3

    [doi:10.1016/j.jmoldx.2020.10.006]

  • 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: 9

    [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: 17

    [doi:10.1002/ana.25900]

  • 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: 10

    [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: 13

    [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: 19

    [doi:10.1093/brain/awaa228]