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Neurogenètica i Medicina Molecular

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Publicacions

  • 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.

    [doi:10.1111/cge.14701]

  • Pérez-Vidarte F, Estévez-Arias B, Matalonga L, Yubero-Siles D, Codina-Bergadà A, Ortez-Gonzalez CI, Medina J, De Sena-De Cabo L, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Tizzano E, Nascimento-Osorio A and Natera-de Benito D.

    Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

    Annals of Clinical and Translational Neurology . : .

    [doi:10.1002/acn3.70088]

  • 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]

  • 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.

    [doi:10.1016/j.gim.2025.101385]

  • 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]

  • 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 cites: 1

    [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 cites: 4

    [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]

  • Charach, R, Pérez-Cruz M, Masoller-Casas N, Illa-Armengol M, Monterde, E, Martínez-Crespo, JM, Borrell, A, Gómez-Chiari M, Rebollo M, Borregán M, Gómez, O and Eixarch, E.

    Systematic Ultrasound Evaluation of Olfactory Sulci in Fetuses with Congenital Heart Defects: A Clue for CHARGE Syndrome Diagnosis.

    FETAL DIAGNOSIS AND THERAPY . 52(3): 280-290.

    [doi:10.1159/000543190]