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  • Nascimento-Osorio A, Bruels CC, Donkervoort S, Foley AR, Codina-Bergadà A, Milisenda JC, Estrella EA, Li C, Pijuan-Marquilles J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Exposito-Escudero JM, Yubero-Siles D, Martorell-Sampol L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez-Gonzalez CI, Palau F, Ghosh PS, Darras BT, Jou-Munoz C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB and Natera-de Benito D.

    Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

    ACTA NEUROPATHOLOGICA . 145(4): 479-496. Number of citations: 3

    [doi:10.1007/s00401-023-02551-7]

  • Natera-de Benito D, Olival J, Garcia-Cabau C, Jou-Munoz C, Roldan-Molina M, Codina-Bergadà A, Exposito-Escudero JM, Batlle C, Carrera-García L, Ortez-Gonzalez CI, Salvatella X, Palau F, Nascimento-Osorio A and Hoenicka J.

    Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants

    Annals of Clinical and Translational Neurology . 10(3): 408-425. Number of citations: 4

    [doi:10.1002/acn3.51731]

  • García-García AP, Fortuny-Guasch C, Fumadó V, Jordán-García I, Ruiz-López L, González-Navarro EA, Egri N, Esteve-Solé A, Luo Y, Vlagea A, Manuel Monsonis Cabedo, Launes-Montana C, Soler-García a, Codina-Bergadà A, Juan-Otero M, Pascal-Capdevila R, Deyà-Martinez A and Alsina L.

    Acute and long-term immune responses to SARS-CoV-2 infection in unvaccinated children and young adults with inborn errors of immunity

    FRONTIERS IN IMMUNOLOGY . 14: 1084630-1084630. Number of citations: 3

    [doi:10.3389/fimmu.2023.1084630]

  • Trifunov S, Natera-de Benito D, Carrera-García L, Codina-Bergadà A, Exposito-Escudero JM, Ortez-Gonzalez CI, Medina J, Torres Alcala S, Bernal S, Alias L, Badosa-Gallego MC, Balsells S, Alcolea D, Nascimento-Osorio A and Jimenez-Mallebrera C.

    Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen

    Journal of neuromuscular diseases . 10(4): 653-665. Number of citations: 6

    [doi:10.3233/JND-230012]

  • Jou-Munoz C, Nascimento-Osorio A, Codina-Bergadà A, Montoya J, López-Gallardo E, Emperador S, Ruiz-Pesini E, Montero-Sanchez R, Natera-de Benito D, Ortez-Gonzalez CI, Márquez-Pereira JM, Zelaya MV, Gutierrez-Mata A, Badosa-Gallego MC, Carrera-García L, Exposito-Escudero JM, Roldan-Molina M, Camara Y, Marti R, Ferrer I, Jimenez-Mallebrera C and Artuch-Iriberri R.

    Pathological Features in Paediatric Patients with TK2 Deficiency

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(19): 11002. Number of citations: 3

    [doi:10.3390/ijms231911002]

  • Casas-Alba D, Oliva C, Salgado MDC, Codina-Bergadà A, Agut-Quijano T, García-Alix A, Garcia-Puig M, Garcia-Cazorla A, Taglialatela M, Jou-Munoz C, Artuch-Iriberri R and Fons-Estupina C.

    Cerebrospinal Fluid Ion Analysis in Neonatal Seizures

    PEDIATRIC NEUROLOGY . 128: 16-19. Number of citations: 2

    [doi:10.1016/j.pediatrneurol.2021.11.013]

  • Dobaño C, Alonso S, Vidal M, Jiménez A, Rubio R, Santano R, Barrios D, Pons Tomas G, Melé Casas M, Hernández García M, Girona M, Puyol L, Baro B, Millat-Martínez P, Ajanovic S, Balanza N, Arias S, Rodrigo Melero N, Carolis C, García-Miquel A, Bonet-Carné E, Claverol J, Cubells M, Fortuny-Guasch C, Fumadó V, Codina-Bergadà A, Bassat Q, Munoz-Almagro C, Fernández de Sevilla-Estrach M, Gratacós E, Izquierdo L, García-García JJ, Aguilar R, Jordán-García I and Moncunill G.

    Multiplex Antibody Analysis of IgM, IgA and IgG to SARS-CoV-2 in Saliva and Serum From Infected Children and Their Close Contacts

    FRONTIERS IN IMMUNOLOGY . 13: 751705-751705. Number of citations: 19

    [doi:10.3389/fimmu.2022.751705]

  • Girona M, Argüello G, Esteve-Solé A, Bobillo-Perez S, Paolo-Burgos X, Bonet E, Mensa-Vilaró A, Codina-Bergadà A, Hernández-Garcia M, Jou-Munoz C, Alsina L and Jordán-García I.

    Low levels of CIITA and high levels of SOCS1 predict COVID-19 disease severity in children and adults

    iScience . 25(1): 103595-103595. Number of citations: 3

    [doi:10.1016/j.isci.2021.103595]

  • 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. Number of citations: 19

    [doi:10.1093/cid/ciab227]

  • 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]