Research

Applied research in neuromuscular diseases

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Publications

  • Mercuri E, Deconinck N, Mazzone ES, Nascimento-Osorio A, Oskoui M, Saito K, Vuillerot C, Baranello G, Boespflug-Tanguy O, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Staunton H, Yeung WY, Martin C, Fontoura P, Day JW and SUNFISH Study Group.

    Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2) : a phase 3, double-blind, randomised, placebo-controlled trial

    LANCET NEUROLOGY . 21(1): 42-52. Number of citations: 77

    [doi:10.1016/S1474-4422(21)00367-7]

  • Bertrán K, Sans-Capdevila O, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D and Iranzo de Riquer A.

    Sleep breathing disorders in pediatric patients with spinal muscular atrophy 2

    SLEEP MEDICINE . 89: 85-89. Number of citations: 2

    [doi:10.1016/j.sleep.2021.11.006]

  • Molera C, Sarishvili T, Nascimento-Osorio A, Rtskhiladze I, Muñoz Bartolo G, Fernández Cebrián S, Valverde Fernández J, Muñoz Cabello B, Graham RJ, Miller W, Sepulveda B, Kamath BM, Meng H and Lawlor MW.

    Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report

    Journal of neuromuscular diseases . 9(1): 73-82. Number of citations: 10

    [doi:10.3233/JND-210712]

  • Dobaño C, Alonso S, Fernández de Sevilla-Estrach M, Vidal M, Jiménez A, Pons Tomas G, Jairoce C, Melé Casas M, Rubio R, Hernández García M, Ruiz-Olalla G, Girona M, Barrios D, Santano R, Mitchell RA, Puyol L, Mayer L, Chi J, Rodrigo Melero N, Carolis C, Garcia-Miquel A, Bonet-Carne E, Claverol J, Cubells M, Fortuny-Guasch C, Fumadó V, Jou-Munoz C, Munoz-Almagro C, Izquierdo L, Bassat Q, Gratacós E, Aguilar R, García-García JJ, Moncunill G and Jordán-García I.

    Antibody conversion rates to SARS-CoV-2 in saliva from children attending summer schools in Barcelona, Spain

    BMC MEDICINE . 19(1): 309-309. Number of citations: 10

    [doi:10.1186/s12916-021-02184-1]

  • Crovetto F, Fàtima Crispi Brillas, Llurba E, Pascal-Capdevila R, Larroya M, Trilla C, Camacho M, Medina C, Dobaño C, Gómez-Roig MD, Figueras-Retuerta F, Gratacós E and KidsCorona Pregnancy COVID-19 group.

    Impact of Severe Acute Respiratory Syndrome Coronavirus 2 Infection on Pregnancy Outcomes: A Population-based Study.

    CLINICAL INFECTIOUS DISEASES . 73(10): 1768-1775. Number of citations: 52

    [doi:10.1093/cid/ciab104]

  • 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: 2

    [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: 8

    [doi:10.3390/genes12101590]

  • 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: 6

    [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: 20

    [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: 4

    [doi:10.3389/fneur.2021.659922]