Publications (62)

¹ Publicaciones consideradas como producción del grupo

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2025

  1. A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps

    European Journal of Neurology, Vol. 32, Núm. 1

  2. Antisense RNA therapies for muscular dystrophies

    Journal of Neuromuscular Diseases

  3. Characterization of DMPK and MBNL1 expression in cell models of myotonic dystrophy: a platform for drug screening

    NAR Molecular Medicine, Vol. 2, Núm. 3

  4. Collablots: Quantification of Collagen VI Levels and Its Structural Disorganisation in Cell Cultures From Patients With Collagen VI‐Related Dystrophies

    Neuropathology and Applied Neurobiology, Vol. 51, Núm. 3

  5. Deep Brain Stimulation for Status Dyskineticus in ADCY5-Related Dyskinesia in a 60-Year-Old Woman

    Movement Disorders Clinical Practice, Vol. 12, Núm. 11, pp. 1987-1991

  6. Development of a Broadly Applicable Enzymatic Ligation Process for the Production of Single Guide RNAs

    Organic Process Research and Development, Vol. 29, Núm. 5, pp. 1228-1236

  7. Ending publication bias: A values-based approach to surface null and negative results

    PLOS Biology, Vol. 23, Núm. 9, pp. e3003368

  8. Impact of placental and peripheral blood DNA methylation on celiac disease susceptibility

    Journal of Pediatric Gastroenterology and Nutrition, Vol. 81, Núm. 3, pp. 587-595

  9. Modulation of NEAT1 and MALAT1 expression in WJ-MSCs by Covid-19 serum: a foundation for EVs-mediated therapy

    Respiratory Research, Vol. 26, Núm. 1

  10. Pearls & Oy-sters: ADCY5-Related Dyskinesia: From a Longstanding Misdiagnosis of Drug-Resistant Epilepsy

    Neurology, Vol. 104, Núm. 10, pp. e213661

  11. Sensory neuronopathy in a patient with anti-FGFR3 antibodies and lung adenocarcinoma, coincidence or causality?

    Neurologia

  12. The current and future landscape of RNA-based therapies and diagnostics

    Communications Medicine

  13. Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

    Annals of Clinical and Translational Neurology, Vol. 12, Núm. 7, pp. 1465-1479

2024

  1. Absence of Pathogenic Mutations and Strong Association With HLA-DRB1∗11:01 in Statin-Naïve Early-Onset Anti-HMGCR Necrotizing Myopathy

    Neurology: Neuroimmunology and NeuroInflammation, Vol. 11, Núm. 5

  2. Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model

    Skeletal muscle, Vol. 14, Núm. 1, pp. 21

  3. Mutations of Key Functional Residues in CRM1/XPO1 Differently Alter Its Intranuclear Localization and the Nuclear Export of Endogenous Cargos

    Biomolecules, Vol. 14, Núm. 12

2023

  1. Considerations in the Preclinical Assessment of the Safety of Antisense Oligonucleotides

    Nucleic acid therapeutics, Vol. 33, Núm. 1, pp. 1-16

  2. Experimental Model Systems Used in the Preclinical Development of Nucleic Acid Therapeutics

    Nucleic Acid Therapeutics, Vol. 33, Núm. 4, pp. 238-247

  3. Follow-up regimens for carriers of hereditary transthyretin variants

    Medicina Clinica

  4. High Throughput Fluorescence-Based In Vitro Experimental Platform for the Identification of Effective Therapies to Overcome Tumour Microenvironment-Mediated Drug Resistance in AML

    Cancers, Vol. 15, Núm. 7