Publikationen in Zusammenarbeit mit Forschern von Universitat de València (13)

2024

  1. AntimiR treatment corrects myotonic dystrophy primary cell defects across several CTG repeat expansions with a dual mechanism of action

    Science advances, Vol. 10, Núm. 41, pp. eadn6525

  2. Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis (Journal of Neurology, (2023), 270, 12, (5849-5865), 10.1007/s00415-023-11862-4)

    Journal of Neurology

  3. Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis

    Acta Neuropathologica, Vol. 148, Núm. 1

2023

  1. Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

    Journal of Neurology, Vol. 270, Núm. 12, pp. 5849-5865

  2. Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies

    Neurology: Genetics, Vol. 9, Núm. 4

2022

  1. Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome

    Annals of Clinical and Translational Neurology, Vol. 9, Núm. 2, pp. 122-131

2021

  1. Preclinical characterization of antagomiR-218 as a potential treatment for myotonic dystrophy

    Molecular Therapy - Nucleic Acids, Vol. 26, pp. 174-191

2019

  1. Increased Muscleblind levels by chloroquine treatment improve myotonic dystrophy type 1 phenotypes in in vitro and in vivo models

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 116, Núm. 50, pp. 25203-25213

2017

  1. Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

    Scientific Reports, Vol. 7, Núm. 1

2016

  1. Identification and Characterization of the Dermal Panniculus Carnosus Muscle Stem Cells

    Stem Cell Reports, Vol. 7, Núm. 3, pp. 411-424

  2. Six serum miRNAs fail to validate as myotonic dystrophy type 1 biomarkers

    PLoS ONE, Vol. 11, Núm. 2

2014

  1. Murine muscle engineered from dermal precursors: An in vitro model for skeletal muscle generation, degeneration, and fatty infiltration

    Tissue Engineering - Part C: Methods, Vol. 20, Núm. 1, pp. 28-41

2013

  1. Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients

    Human Molecular Genetics, Vol. 22, Núm. 4, pp. 704-716