Investigación

Neurogenética y Medicina Molecular

Buscador de publicaciones

Publicaciones

  • Trujillano L, Valenzuela I, Costa-Roger M, Cuscó I, Fernandez-Alvarez P, Cueto-González A, Lasa-Aranzasti A, Masotto B, Abulí A, Codina-Solà M, Del Campo M, Ruiz Moreno JA, Pardo Domínguez C, Palma Milla C, Pérez de la Fuente R, Quesada-Espinosa JF, Núñez-Enamorado N, Gener B, Ballesta-Martínez MJ, Brea-Fernández AJ, Fernández-Prieto M, Trujillo-Quintero JP, Ruiz A, Santos-Simarro F, Rosello M, Orellana C, Martinez F, Martinez-Monseny T, Casas-Alba D, Serrano M, Palomares-Bralo M, Rikeros-Orozco E, Gómez-Cano MÁ, Tirado-Requero P, Pié Juste J, Ramos FJ, García-Arumí E and Tizzano E.

    Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome

    CLINICAL GENETICS . 107(6): 646-662. Nº de citas: 2

    [doi:10.1111/cge.14701]

  • Carrera-García L, Exposito-Escudero JM, Ñungo Garzón NC, Pareja A, Fernández-García MA, Ortez-Gonzalez CI, Medina J, Martínez-Salcedo E, Urbano M, Grimalt MA, Munell F, García-Campos Ó, Roca S, Obdulia Moya Arcos, Estévez-Arias B, Balsells S, Frongia AL, Borràs A, Puig-Ram C, García Romero M, Calvo R, López-Lobato M, Pitarch-Castellano I, Natera-de Benito D and Nascimento-Osorio A.

    Upper limb motor function in individuals with SMA type 2: natural history and impact of therapies

    JOURNAL OF NEUROLOGY . 272(5): 331-331.

    [doi:10.1007/s00415-025-13042-y]

  • Vicente-Garces C, Fernandez-Isern G, Esperanza-Cebollada E, Richarte M, Crespo-Carrasco A, Montesdeoca S, Isola I, Sarrate E, Cuatrecasas E, Rives-Solà S, Dapena JL, Camós-Guijosa M and Vega-García N.

    RNA-sequencing: A reliable tool to unveil transcriptional landscape of paediatric B-other acute lymphoblastic leukaemia

    BRITISH JOURNAL OF HAEMATOLOGY . 206(5): 1355-1365.

    [doi:10.1111/bjh.20056]

  • Salvador, L, del Valle, J, Dorca, E, Chong, AS, Chong, AL, Valenzuela, JC, Munté, E, Rioja, C, Marti-Sanchez L, Salinas, M, Darder, E, Fabian, MR, Brunet, J, Salvador-Hernandez H, Lázaro, C and Rivera, B.

    DICER1 in pediatric and adult cancer predisposition populations: Prevalence, phenotypes, and mosaicism.

    GENETICS IN MEDICINE . 27(5): 101385-101385. Nº de citas: 1

    [doi:10.1016/j.gim.2025.101385]

  • Lange LM, Levine K, Fox SH, Marras C, Ahmed N, Kuznetsov N, Vitale D, Iwaki H, Lohmann K, Marsili L, Espay AJ, Bauer P, Beetz C, Martin J, Factor SA, Higginbotham LA, Chen H, Leonard H, Nalls MA, Mencacci NE, Morris HR, Singleton AB, Klein C, Blauwendraat C and Fang ZH.

    The LRRK2 p.L1795F variant causes Parkinson's disease in the European population.

    npj Parkinsons Disease . 11(1): 58-58. Nº de citas: 2

    [doi:10.1038/s41531-025-00896-2]

  • Estévez-Arias B, Matalonga L, Yubero-Siles D, Polavarapu K, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento-Osorio A, Hoenicka J, Palau F and Natera-de Benito D.

    Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases

    EUROPEAN JOURNAL OF HUMAN GENETICS . 33(2): 239-247. Nº de citas: 6

    [doi:10.1038/s41431-024-01699-4]

  • Hernández-Rodríguez J, Martínez-Valle F, Acebes X, Alerany C, Anton-Lopez J, Calvo G, Corral M, Cruz J, Mangues-Bafalluy MA, Mateo J, Rivera J, Salazar A, Francisco R, Mallol C, Reig-Viader R, Tigri-Santiña A, Ricart A and Palau F.

    Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project

    ORPHANET JOURNAL OF RARE DISEASES . 20(1): 42-42.

    [doi:10.1186/s13023-024-03518-x]

  • Llargués-Sistac G, Bonjoch L, Muñoz J, Domínguez-Rovira X, Ocaña T, Alvarez-Mora MI, Badenas C, Esteve-Codina A, Reyes-Silva C, Jaramillo-Koupermann G, Rodrigo MT, López-Prades S, Cuatrecasas M, Castells A, Balaguer F, Moreira L, Fernandez-Isern G and Castellví-Bel S.

    Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador

    npj Genomic Medicine . 10(1): 3-3.

    [doi:10.1038/s41525-025-00462-y]

  • Julià-Palacios NA, Muñoz-Pujol, G, Maroofian, R, Bertoli-Avella, AM, Gómez-Chiari M, Muchart-Lopez J, Paredes-Fuentes, AJ, O'Callaghan-Gordo M, Machado-Casas, IS, Cristian, I, Morrison, J, Garcia-Cazorla A, Codina-Bergadà A, Miryounesi, M, Zonic, E, Bauer, P, Cheema, H, Anjum, MN, Al-Sannaa, N, Abd Elmaksoud, M, Ababneh, F, Alijanpour, S, Tonekaboni, SH, Fayazi, A, Urbaniak, M, Barba, U, Hoenicka J, Palau F, Houlden, H, Ortigoza-Escobar JD, Ribes, A, Santos-Ocaña, C, Tyler, M, Gaffney, P, Carroll, CJ, Tort, F, Wierenga, KJ, Webb, BD, Artuch-Iriberri R, Baide HS and Urreizti R.

    Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases

    brain communications . 7(5): .

    [doi:10.1093/braincomms/fcaf348]

  • Vega-Hanna L, Casas-Alba D, Balsells S, Bolasell M, Rubio P, García-García AP, García-García O, O'Callaghan-Gordo M, Pascual-Alonso A, Armstrong-Moron J, Mds Group and Martinez-Monseny T.

    MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables

    Diagnostics . 15(1): . Nº de citas: 1

    [doi:10.3390/diagnostics15010010]