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Publicacions

  • 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. Nº de cites: 21

    [doi:10.3233/JND-210712]

  • Jordán-García I, Fernández de Sevilla-Estrach M, Fumadó V, Bassat Q, Bonet E, Fortuny-Guasch C, Garcia-Miquel A, Jou-Munoz C, Adroher C, Casas MM, Girona M, Garcia MH, Tomas GP, Ajanovic S, Arias S, Balanza N, Baro B, Millat-Martinez P, Varo R, Alonso S, Álvarez-Lacalle E, López D, Claverol J, Cubells M, Brotons-de los Reyes P, Codina-Bergadà A, Cuadras-Palleja D, Bruijning-Verhagen P, Faust S, Munro A, Munoz-Almagro C, Català M, Prats C, García-García JJ and Gratacós E.

    Transmission of Severe Acute Respiratory Syndrome Coronavirus 2 Infection Among Children in Summer Schools Applying Stringent Control Measures in Barcelona, Spain

    CLINICAL INFECTIOUS DISEASES . 74(1): 66-73. Nº de cites: 16

    [doi:10.1093/cid/ciab227]

  • 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. Nº de cites: 11

    [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. Nº de cites: 72

    [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. Nº de cites: 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. Nº de cites: 10

    [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. Nº de cites: 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. Nº de cites: 9

    [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. Nº de cites: 21

    [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. Nº de cites: 5

    [doi:10.3389/fneur.2021.659922]