Buscador de publicaciones

Publicaciones

  • Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch-Iriberri R, Gallano P, Garrabou G, González JR, Grinberg-Vaisman DR, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA and Beltran S.

    Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.

    JOURNAL OF MOLECULAR DIAGNOSTICS . 24(5): 529-542.

    [doi:10.1016/j.jmoldx.2022.02.003]

  • Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P.

    CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.

    CLINICAL GENETICS . 101(5-6): 481-493.

    [doi:10.1111/cge.14113]

  • Almici E, Chiappini V, López-Márquez A, Badosa-Gallego MC, Blázquez B, Caballero D, Montero J, Natera-de Benito D, Nascimento-Osorio A, Roldán M, Lagunas A, Jimenez-Mallebrera C and Samitier J.

    Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies.

    Frontiers in Bioengineering and Biotechnology . 10: 851825-851825.

    [doi:10.3389/fbioe.2022.851825]

  • López-Márquez A, Morín M, Fernández-Peñalver S, Badosa-Gallego MC, Hernández-Delgado A, Natera-de Benito D, Ortez-Gonzalez CI, Nascimento-Osorio A, Grinberg-Vaisman DR, Balcells S, Roldán M, Moreno-Pelayo MÁ and Jimenez-Mallebrera C.

    CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(8): .

    [doi:10.3390/ijms23084410]

  • 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.

    [doi:10.1002/humu.24333]

  • 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 . 8(2): 148-159.

    [doi:10.1159/000521148]

  • Casas-Alba D, Oliva C, Salgado MDC, Codina-Bergadà A, Agut-Quiijano 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.

    [doi:10.1016/j.pediatrneurol.2021.11.013]

  • López-Márquez 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.

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

  • Pijuan J, Cantarero-Abad L, Natera-de Benito D, Altimir A, Altisent-Huguet A, Díaz-Osorio Y, Carrera-García L, Expósito-Escudero J, 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.

    [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 Victoria, 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.

    [doi:10.3389/fimmu.2022.751705]