Investigación

Investigación aplicada en enfermedades neuromusculares

Buscador de publicaciones

Publicaciones

  • 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.

    Times and conditions of storage of samples in anatomic pathology. Recommendations of the Spanish Society of Anatomic Pathology (SEAP) part 1: samples for diagnosis

    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.

    SEAP-IAP recommendations for the collection, storage and use of biological materials of human origin and related data intended for research. Generic biobank consideration and ethical-legal review (Part II)

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

    [doi:10.1016/j.patol.2024.04.005]

  • Nematollahi, Shahrzad, Dieterich, Klaus, Filges, Isabel, De Vries, Johanna I. P., Van Bosse, Harold, Natera-de Benito D, Hall, Judith G., Sawatzky, Bonita, Bedard, Tanya, Sanchez, Victoria Castillo, Navalon-Martinez, Carolina, Pan, Tony, Hilton, Coleman and Dahan-Oliel, Noemi.

    Éléments de données communs pour l'arthrogrypose multiple congénitale: Un cadre international

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 66(10): 200-207.

    [doi:10.1111/dmcn.15915]

  • Nematollahi S, Dieterich K, Filges I, De Vries JIP, Van Bosse H, Natera-de Benito D, Hall JG, Sawatzky B, Bedard T, Sanchez VC, Navalon-Martinez C, Pan T, Hilton C and Dahan-Oliel N.

    Elementos de datos comunes para la artrogriposis múltiple congénita: Un marco internacional

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 66(10): 192-199.

    [doi:10.1111/dmcn.15914]

  • Nematollahi S, Dieterich K, Filges I, De Vries JIP, Van Bosse H, Natera-de Benito D, Hall JG, Sawatzky B, Bedard T, Sanchez VC, Navalon-Martinez C, Pan T, Hilton C and Dahan-Oliel N.

    Common data elements for arthrogryposis multiplex congenita: An international framework

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 66(10): 1340-1347. Nº de citas: 7

    [doi:10.1111/dmcn.15898]

  • 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 . 70(12): 1443-1451. Nº de citas: 1

    [doi:10.1093/clinchem/hvae139]

  • Pons-Tomas, Gemma, Hernandez-Garcia, Maria, Mele-Casas, Maria, Fernández de Sevilla-Estrach M, Launes-Montana C, Girona M, Rios-Barnés M, Bassat Q, Ajanovic, Sara, Cubells M, Claverol J, Penela-Sanchez, Daniel, Jou-Munoz C, Manuel Monsonis Cabedo, Esteva-Afonso C, Fassanella, Assumpta, Cuadras-Palleja D, Munoz-Almagro C, Jordán-García I, Fortuny-Guasch C, García-García JJ and Fumadó V.

    Clinical Characterization, Transmissibility, and Seroconversion of SARS-CoV-2 Infection in Children (before the Start of Vaccination) in the Barcelona Metropolitan Region (Spain)

    Journal of Pediatric Infectious Diseases . 19(05): 251-259.

    [doi:10.1055/s-0044-1787676]

  • 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]

  • Fabra MA, Paredes-Fuentes AJ, Torralba Carnerero M, Moreno Férnandez de Ayala DJ, Arroyo Luque A, Sánchez Cuesta A, Staiano C, Sanchez-Pintos P, Luz Couce M, Tomás M, Marco-Hernández AV, Orellana C, Martínez F, Roselló M, Caro A, Oltra Soler JS, Monfort S, Sánchez A, Rausell D, Vitoria I, Del Toro M, Garcia-Cazorla A, Julià-Palacios NA, Jou-Munoz C, Yubero-Siles D, López LC, Hernández Camacho JD, López Lluch G, Ballesteros Simarro M, Rodríguez Aguilera JC, Calvo GB, Cascajo Almenara MV, Artuch-Iriberri R and Santos-Ocaña C.

    New variants expand the neurological phenotype of COQ7 deficiency

    JOURNAL OF INHERITED METABOLIC DISEASE . 47(5): 1047-1068. Nº de citas: 2

    [doi:10.1002/jimd.12776]

  • 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. Nº de citas: 13

    [doi:10.1080/02640414.2024.2386209]