Research

Applied research in neuromuscular diseases

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Publications

  • Tresserra Casas F, Rosello Sastre E, Fernández Aceñero MJ, Zaragoza Macián L, Azúa Romeo J, Alfaro-Cervelló C, Navarro Fos S, García Fernández E, Temprana-Salvador J, Iglesias Coma M, Olivares Vegas F, Fernández Figueras M, Aso Manso S, Aguirre Anda JJ, Salas Valién JS, Álvarez Alegret R, Hernández Losa J, Jou-Munoz C, Dinarès Fernández C, Urbano Carrillo M, Béjar Valera J, Chappuis de Oliveira C, Centeno Haro M, Leiva-Cepas F and Martínez Lorente A.

    Tiempos y condiciones de almacenamiento de las muestras en anatomía patológica. Recomendaciones de la Sociedad Española de Anatomía Patológica parte 1: muestras destinadas al diagnóstico.

    Revista Espanola de Patologia . 57(4): 235-249.

    [doi:10.1016/j.patol.2024.04.004]

  • Martínez Lorente A, Rosello Sastre E, Jesús Fernández Aceñero M, Zaragoza Macián L, Azúa Romeo J, Alfaro-Cervelló C, Navarro S, García Fernández E, Temprana-Salvador J, Iglesias Coma M, Olivares Vegas F, Fernández Figueras M, Aso Manso S, Aguirre Anda JJ, Salas Valién JS, Álvarez Alegret R, Hernández Losa J, Jou-Munoz C, Dinarès Fernández C, Urbano Carrillo M, Béjar Valera J, Chappuis de Oliveira C, Centeno Haro M, Leiva Cepas F and Tresserra Casas F.

    Recomendaciones de la SEAP-IAP para la recolección, el almacenamiento y el uso de materiales biológicos de origen humano y los datos relacionados, destinados a la investigación. Consideración genérica de biobanco y revisión ético-legal (Parte II).

    Revista Espanola de Patologia . 57(4): 250-257.

    [doi:10.1016/j.patol.2024.04.005]

  • Rodriguez H, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Oliva-Mussara C, Barranco-Altirriba M, Ricard Casadevall Llandrich, Francisco García Cuyás, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Armangue-Salvador T, O'Callaghan-Gordo M, Julià-Palacios NA, Darling A, Ortigoza-Escobar JD, Fons-Estupina C, Garcia-Cazorla A, Perera A and Artuch-Iriberri R.

    Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication

    CLINICAL CHEMISTRY . : .

    [doi:10.1093/clinchem/hvae139]

  • Llansó L, Segarra-Casas A, Domínguez-González C, Malfatti E, Kapetanovic S, Rodríguez-Santiago B, de la Calle O, Blanco R, Dobrescu A, Nascimento-Osorio A, Paipa A, Hernandez-Lain A, Jou-Munoz C, Mariscal A, González-Mera L, Arteche A, Lleixà C, Caballero-Ávila M, Carbayo Á, Vesperinas A, Querol L, Gallardo E and Olivé M.

    Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naive Early-Onset Anti-HMGCR Necrotizing Myopathy

    NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION . 11(5): .

    [doi:10.1212/NXI.0000000000200285]

  • Di Feo MF, Oghabian A, Nippala E, Gautel M, Jungbluth H, Forzano F, Malfatti E, Castiglioni C, Krey I, Gomez Andres D, Brady AF, Iascone M, Cereda A, Pezzani L, Natera-de Benito D, Nascimiento A, Estévez-Arias B, Kurbatov SA, Attie-Bitach T, Nampoothiri S, Ryan E, Morrow M, Gorokhova S, Chabrol B, Sinisalo J, Tolppanen H, Tolva J, Munell F, Camacho Soriano J, Sanchez Duran MA, Johari M, Tajsharghi H, Hackman P, Udd B and Savarese M.

    Inferring disease course from differential exon usage in the wide titinopathy spectrum

    Annals of Clinical and Translational Neurology . : .

    [doi:10.1002/acn3.52189]

  • Carmona G, Moreno-Simonet L, Cosio PL, Astrella A, Fernández D, Cadefau JA, Rodas G, Jou-Munoz C, Milisenda JC, Cano MD, Arànega R, Marotta M, Grau JM, Padullés JM and Mendiguchia J.

    Hamstrings on focus: Are 72 hours sufficient for recovery after a football (soccer) match? A multidisciplinary approach based on hamstring injury risk factors and histology

    JOURNAL OF SPORTS SCIENCES . 42(12): 1130-1146.

    [doi:10.1080/02640414.2024.2386209]

  • Natera-de Benito D, Pugliese A, Polavarapu K, Guergueltcheva V, Tournev I, Todorova A, Afonso Ribeiro J, Fernández-Mayoralas DM, Ortez-Gonzalez CI, Martorell-Sampol L, Estévez-Arias B, Matalonga L, Laurie S, Jou-Munoz C, Lau J, Thompson R, Shen X, Engel AG, Nascimento-Osorio A, Lochmüller H and Selcen D.

    Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases

    PEDIATRIC NEUROLOGY . 157: 5-13.

    [doi:10.1016/j.pediatrneurol.2024.04.027]

  • de Lemus, Mencia, Cattinari, Maria G., Pascual, Samuel I., Medina J, Garcia, Mar, Magallon, Ana, Dumont, Maria and Rebollo, Pablo.

    Identification of the most relevant aspects of spinal muscular atrophy (SMA) with impact on the quality of life of SMA patients and their caregivers: the PROfuture project, a qualitative study

    Journal of Patient-Reported Outcomes . 8(1): .

    [doi:10.1186/s41687-024-00758-0]

  • Crawford TO, Day JW, De Vivo DC, Krueger JM, Mercuri E, Nascimento-Osorio A, Pasternak A, Mazzone ES, Duong T, Song G, Marantz JL, Baver S, Yu D, Liu L and Darras BT.

    Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study

    FRONTIERS IN NEUROLOGY . 15: 1419791-1419791.

    [doi:10.3389/fneur.2024.1419791]

  • Fernandez-Simon, Esther, Pinol-Jurado, Patricia, Gokul-Nath, Rasya, Unsworth, Adrienne, Alonso-Perez, Jorge, Schiava, Marianela, Nascimento-Osorio A, Tasca, Giorgio, Queen, Rachel, Cox, Dan, Suarez-Calvet, Xavier and Diaz-Manera, Jordi.

    Single cell RNA sequencing of human FAPs reveals different functional stages in Duchenne muscular dystrophy

    Frontiers in Cell and Developmental Biology . 12: .

    [doi:10.3389/fcell.2024.1399319]