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Investigació aplicada en malalties neuromusculars

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Publicacions

  • 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 . : .

    [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 . : .

    [doi:10.1111/dmcn.15914]

  • Ceballos, F, Serrano-Lorenzo, P, Bermejo-Guerrero, L, Blázquez, A, Quesada-Espinosa, JF, Amigo, J, Minguez, P, Ayuso, C, García-Arumí, E, Muelas, N, Jaijo, T, Nascimento-Osorio A, Galán-Rodriguez, B, Paradas, C, Arenas, J, Carracedo, A, Martí, R, Martín, MA and Domínguez-González, C.

    Clinical and Genetic Analysis of Patients With TK2 Deficiency

    NEUROLOGY-GENETICS . 10(2): .

    [doi:10.1212/NXG.0000000000200138]

  • Cascajo-Almenara MV, Julià-Palacios NA, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva-Mussara C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, Muchart-Lopez J, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Pineda M, Rivera N, Fortuna TR, Rajan DS, Navas P, Salviati L, Palau F, Yubero-Siles D, Garcia-Cazorla A, Bhan-Pandey U, Santos-Ocaña C and Artuch-Iriberri R.

    Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

    EUROPEAN JOURNAL OF HUMAN GENETICS . 32(4): 426-434. Nº de cites: 3

    [doi:10.1038/s41431-023-01526-2]

  • Martinez-Pizarro, Ainhoa, Pico, Sara, López-Marquez A, Rodriguez-Lopez, Claudia, Montalvo, Elena, Alvarez, Mar, Castro, Margarita, Ramon-Maiques, Santiago, Perez, Belen, Lucas, Jose J., Richard, Eva and Desviat, Lourdes R..

    PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice

    HUMAN MOLECULAR GENETICS . 33(12): 1074-1089.

    [doi:10.1093/hmg/ddae051]

  • 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 . : . Nº de cites: 1

    [doi:10.1111/dmcn.15898]

  • Dang UJ, Damsker JM, Guglieri M, Clemens PR, Perlman SJ, Smith EC, Horrocks I, Finkel RS, Mah JK, Deconinck N, Goemans NM, Haberlová J, Straub V, Mengle-Gaw L, Schwartz BD, Harper A, Shieh PB, De Waele L, Castro D, Yang ML, Ryan MM, McDonald CM, Tulinius M, Webster RI, Mcmillan HJ, Kuntz N, Rao VK, Baranello G, Spinty S, Childs AM, Sbrocchi AM, Selby KA, Monduy M, Nevo Y, Vilchez JJ, Nascimento-Osorio A, Niks EH, De Groot IJM, Katsalouli M, Van Den Anker JN, Ward LM, Leinonen M, D'Alessandro AL and Hoffman EP.

    Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy

    Neurology . 102(5): . Nº de cites: 8

    [doi:10.1212/WNL.0000000000208112]

  • Estévez-Arias B, Matalonga L, Martorell-Sampol L, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Yubero-Siles D, Hoenicka J, Jou-Munoz C, Palau F, Beltran S, Lochmüller H, Töpf A, Nascimento-Osorio A and Natera-de Benito D.

    Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy

    Journal of neuromuscular diseases . 11(3): 647-653. Nº de cites: 1

    [doi:10.3233/JND-230216]

  • Martinez-Marin RJ, Reyes-Leiva D, Nascimento-Osorio A, Muelas N, Dominguez-González C, Paradas C, Olivé M, García-Romero M, Pascual-Pascual SI, Grau JM, Barba-Romero MA, Gomez-Caravaca MT, de Las Heras J, Casquero P, Mendoza MD, de León JC, Gutierrez A, Morís G, Blanco-Lago R, Ramos-Fransi A, Pintós G, García-Antelo MJ, Rabasa M, Morgado Y, Usón M, Miralles FJ, Bárcena-Llona JE, Gómez-Belda AB, Pedraza-Hueso MI, Hortelano M, Colomé A, Garcia-Martin G, Lopez de Munain A, Jericó I, Galán-Dávila L, Pardo J, Salgueiro-Origlia G, Alonso-Pérez J, Pla-Junca F, Schiava M, Segovia-Simón S and Díaz-Manera J.

    Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    NEUROMUSCULAR DISORDERS . 34: 1-8.

    [doi:10.1016/j.nmd.2023.10.001]

  • Pitarch-Castellano, I, Hervás, D, Cattinari, MG, Albert, EI, Lobato, ML, Garzón, NCN, Rojas, J, Puig-Ram C and Madruga-Garrido, M.

    Pain in Children and Adolescents with Spinal Muscular Atrophy: A Longitudinal Study from a Patient Registry

    CHILDREN-BASEL . 10(12): . Nº de cites: 2

    [doi:10.3390/children10121880]