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Investigació aplicada en malalties neuromusculars

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Publicacions

  • Natera-de Benito D, Jurgens JA, Yeung A, Zaharieva IT, Manzur A, DiTroia SP, Di Gioia SA, Pais L, Pini V, Barry BJ, Chan WM, Elder JE, Christodoulou J, Hay E, England EM, Munot P, Hunter DG, Feng L, Ledoux D, O'Donnell-Luria A, Phadke R, Engle EC, Sarkozy A and Muntoni F.

    Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder

    HUMAN MUTATION . 43(4): 487-498. Nº de cites: 4

    [doi:10.1002/humu.24333]

  • 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. Nº de cites: 1

    [doi:10.1016/j.pediatrneurol.2021.11.013]

  • Hernández-Ainsa C, Nascimento-Osorio A, Jou-Munoz C, Artuch-Iriberri R, Montoya C, Ruiz-Pesini E and Emperador S.

    Generation of an induced pluripotent stem cell line from a compound heterozygous patient in TK2 gene

    STEM CELL RESEARCH . 59: 102632-102632.

    [doi:10.1016/j.scr.2021.102632]

  • López-Marquez A, Carrasco-López C, Martínez-Cano A, Lemoine P, Pierreux CE and Santisteban P.

    Sox9 is involved in the thyroid differentiation program and is regulated by crosstalk between TSH, TGFß and thyroid transcription factors

    SCIENTIFIC REPORTS . 12(1): 2144-2144. Nº de cites: 5

    [doi:10.1038/s41598-022-06004-1]

  • Pijuan-Marquilles J, Cantarero-Abad L, Natera-de Benito D, Altimir A, Altisent A, Díaz-Osorio Y, Carrera-García L, Exposito-Escudero JM, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F.

    Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases

    FRONTIERS IN NEUROSCIENCE . 16: 784880-784880. Nº de cites: 8

    [doi:10.3389/fnins.2022.784880]

  • 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. Nº de cites: 14

    [doi:10.3389/fimmu.2022.751705]

  • 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. Nº de cites: 2

    [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. Nº de cites: 1

    [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. Nº de cites: 2

    [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. Nº de cites: 1

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