Research

Applied research in neuromuscular diseases

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Publications

  • Parasyri, M, Brandstroem, P, Uusimaa, J, Ostergaard, E, Hikmat, O, Isohanni, P, Naess, K, de Coo, IFM, Nascimento-Osorio A, Nuutinen, M, Lindberg, C, Bindoff, LA, Tulinius, M, Darin, N and Sofou, K.

    Renal Phenotype in Mitochondrial Diseases: A Multicenter Study

    Kidney Diseases . : 148-159. Number of citations: 8

    [doi:10.1159/000521148]

  • 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]

  • Estévez-Arias B, Carrera-García L, Nascimento-Osorio A, Cantarero-Abad L, Hoenicka J and Palau F.

    Genetic approaches and pathogenic pathways in the clinical management of Charcot-Marie-Tooth disease

    Journal of Translational Genetics and Genomics . 6(3): 333-352. Number of citations: 4

    [doi:10.20517/jtgg.2022.04]

  • López-Marquez A, Martínez-Pizarro A, Pérez B, Richard E and Desviat LR.

    Modeling Splicing Variants Amenable to Antisense Therapy by Use of CRISPR-Cas9-Based Gene Editing in HepG2 Cells.

    Methods In Molecular Biology (clifton, N.J.) . 2434: 167-184. Number of citations: 1

    [doi:10.1007/978-1-0716-2010-6_10]

  • 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: 131

    [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: 5

    [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: 25

    [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. Number of citations: 19

    [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. Number of citations: 11

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

  • Crovetto F, Crispi F, 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: 75

    [doi:10.1093/cid/ciab104]