Research

Applied research in neuromuscular diseases

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Publications

  • Domínguez-González C, Madruga-Garrido M, Hirano M, Martí I, Martín MA, Munell F, Nascimento-Osorio A, Olivé M, Quan J, Sardina MD, Martí R and Paradas C.

    Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

    ORPHANET JOURNAL OF RARE DISEASES . 16(1): 407-407. Number of citations: 4

    [doi:10.1186/s13023-021-02030-w]

  • Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B, Martín MA, Montoya J and Artuch-Iriberri R.

    The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call

    GENES . 12(10): 1590. Number of citations: 11

    [doi:10.3390/genes12101590]

  • Natera-de Benito D, Aguilera-Albesa S, Costa-Comellas L, García-Romero M, Miranda-Herrero MC, Rúbies Olives J, García-Campos Ó, Martínez Del Val E, Martinez Garcia MJ, Medina Martínez I, Cancho-Candela R, Fernandez-Garcia MA, Pascual-Pascual SI, Gómez-Andrés D, Nascimento-Osorio A and Neuromuscular Working Group of Spanish Pediatric Neurology Society.

    COVID-19 in children with neuromuscular disorders

    JOURNAL OF NEUROLOGY . 268(9): 3081-3085. Number of citations: 17

    [doi:10.1007/s00415-020-10339-y]

  • Trifunov S, Paredes-Fuentes AJ, Badosa-Gallego MC, Codina-Bergadà A, Montoya C, Ruiz-Pesini E, Jou-Munoz C, Garrabou G, Grau-Junyent JM, Yubero-Siles D, Montero-Sanchez R, Muchart-Lopez J, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Català-Temprano A, Garcia-Cazorla A, Jimenez-Mallebrera C and Artuch-Iriberri R.

    Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases

    CLINICAL CHEMISTRY . 67(8): 1113-1121. Number of citations: 12

    [doi:10.1093/clinchem/hvab091]

  • Brotons-de los Reyes P, Launes-Montana C, Buetas E, Fumadó V, Henares-Bonilla D, Fernández de Sevilla-Estrach M, Redin-Alonso A, Fuente-Soro L, Cuadras-Palleja D, Mele M, Jou-Munoz C, Millat P, Jordán-García I, García-García JJ, Bassat Q and Munoz-Almagro C.

    Susceptibility to Severe Acute Respiratory Syndrome Coronavirus 2 Infection Among Children and Adults: A Seroprevalence Study of Family Households in the Barcelona Metropolitan Region, Spain

    CLINICAL INFECTIOUS DISEASES . 72(12): 970-977. Number of citations: 22

    [doi:10.1093/cid/ciaa1721]

  • Alonso-Jiménez A, Fernández-Simón E, Natera-de Benito D, Ortez-Gonzalez CI, García C, Montiel E, Belmonte I, Pedrosa I, Segovia S, Piñol-Jurado P, Carrasco-Rozas A, Suárez-Calvet X, Jimenez-Mallebrera C, Nascimento-Osorio A, Llauger J, Nuñez-Peralta C, Montesinos P, Alonso-Pérez J, Gallardo E, Illa I and Díaz-Manera J.

    Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies

    FRONTIERS IN NEUROLOGY . 12: 659922-659922. Number of citations: 5

    [doi:10.3389/fneur.2021.659922]

  • Natera-de Benito D, Sola A, Sousa PR, Boronat S, Exposito-Escudero JM, Carrera-García L, Ortez-Gonzalez CI, Jou-Munoz C, Muchart-Lopez J, Rebollo M, Armstrong-Moron J, Colomer J, Garcia-Cazorla A, Hoenicka J, Palau F and Nascimento-Osorio A.

    Copper Toxicity Associated With an ATP7A-Related Complex Phenotype

    PEDIATRIC NEUROLOGY . 119: 40-44. Number of citations: 6

    [doi:10.1016/j.pediatrneurol.2021.03.005]

  • Madruga-Garrido M, Vázquez-Costa JF, Medina J, Brañas M, Cattinari MG, de Lemus M, Díaz-Abós P, Sánchez-Menéndez V, Terrancle Á, Rebollo P and Maurino J.

    Design of a Non-Interventional Study to Validate a Set of Patient- and Caregiver-Oriented Measurements to Assess Health Outcomes in Spinal Muscular Atrophy (SMA-TOOL Study)

    Neurology and Therapy . 10(1): 361-373. Number of citations: 11

    [doi:10.1007/s40120-020-00229-w]

  • Medina J, Obdulia Moya Arcos, NÚRIA PADRÓS DOMINGO, Roca-Urraca S, Vigo-Morancho M and Mas S.

    Spanish translation and linguistic validation of the North Star Ambulatory Assessment for Duchenne muscular dystrophy functional evaluation

    REVISTA DE NEUROLOGIA . 72(10): 337-342. Number of citations: 1

    [doi:10.33588/rn.7210.2020604]

  • Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desguerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Nascimento-Osorio A, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacoto MJG, Begtrup A, Houlden H, Kirschner J, Schorling D, Rudnik-Schöneborn S, Strom TM, Leiz S, Juliette K, Richardson R, Yang Y, Zhang Y, Wang M, Wang J, Wang X, Platzer K, Donkervoort S, Bönnemann CG, Wagner M, Issa MY, Elbendary HM, Stanley V, Maroofian R, Gleeson JG, Zaki MS, Senderek J and Pandey UB.

    Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

    NATURE COMMUNICATIONS . 12(1): 2558-2558. Number of citations: 34

    [doi:10.1038/s41467-021-22627-w]