Investigación

Investigación aplicada en enfermedades neuromusculares

Buscador de publicaciones

Publicaciones

  • Barbera, Anna Revert, Martorell, Loreto, Boix Lluch C, Armstrong-Moron J, Carrera, Laura, Nascimento-Osorio A and Ortigoza-Escobar JD.

    Clinical Response of Levodopa in CTNNB1 -Related Dystonia

    Journal of Pediatric Neurology . 22(06): 466-469.

    [doi:10.1055/s-0044-1787194]

  • Servais L, Strijbos P, Poleur M, Mirea A, Butoianu N, Sansone VA, Vuillerot C, Schara-Schmidt U, Scoto M, Seferian AM, Previtali SC, Tulinius M, Nascimento-Osorio A, Furlong P, Singh T, Dreghici RD, Goemans N, Mercuri E, Straub V, Ormazabal MG, Braid J, Muntoni F, Tricot A, Annoussamy M and Eggenspieler D.

    Evidentiary basis of the first regulatory qualification of a digital primary efficacy endpoint

    SCIENTIFIC REPORTS . 14(1): 29681-29681. Nº de citas: 1

    [doi:10.1038/s41598-024-80177-9]

  • Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM and Laurie S.

    Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

    npj Genomic Medicine . 9(1): 49-49.

    [doi:10.1038/s41525-024-00436-6]

  • 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, Nascimento-Osorio 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 . 11(10): 2745-2755. Nº de citas: 1

    [doi:10.1002/acn3.52189]

  • 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: 3

    [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.

    [doi:10.1093/clinchem/hvae139]