Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (35)

2024

  1. Variations in the treatment of acute peripheral facial paralysis. A nationwide survey

    Acta Otorrinolaringologica Espanola, Vol. 75, Núm. 1, pp. 31-39

2023

  1. An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants

    Journal of Molecular Diagnostics, Vol. 25, Núm. 9, pp. 692-701

  2. Antibodies against the flotillin-1/2 complex in patients with multiple sclerosis

    Brain Communications, Vol. 5, Núm. 2

  3. Live Cell Adhesion, Migration, and Invasion Assays

    Methods in Molecular Biology (Humana Press Inc.), pp. 313-329

  4. Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity

    The Journal of clinical investigation, Vol. 133, Núm. 10

  5. The reuse of genetic information in research and informed consent

    European Journal of Human Genetics, Vol. 31, Núm. 12, pp. 1393-1397

2022

  1. Cardiac fibroblasts display endurance to ischemia, high ROS control and elevated respiration regulated by the JAK2/STAT pathway

    FEBS Journal, Vol. 289, Núm. 9, pp. 2540-2561

  2. Ethics and Genomic Editing Using the Crispr-Cas9 Technique: Challenges and Conflicts

    NanoEthics, Vol. 16, Núm. 3, pp. 313-321

  3. M-CSF as a therapeutic target in BRAFV600E melanoma resistant to BRAF inhibitors

    British Journal of Cancer

2021

  1. Clinical consequences of BRCA2 hypomorphism

    npj Breast Cancer, Vol. 7, Núm. 1

  2. Lipid alterations in human frontal cortex in ALS-FTLD-TDP43 proteinopathy spectrum are partly related to peroxisome impairment

    Neuropathology and Applied Neurobiology, Vol. 47, Núm. 4, pp. 544-563

  3. PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia

    Neurobiology of Disease, Vol. 148

2020

  1. Gefitinib and afatinib show potential efficacy for fanconi anemia-related head and neck cancer

    Clinical Cancer Research, Vol. 26, Núm. 12, pp. 3044-3057

2019

  1. Loss of glutathione redox homeostasis impairs proteostasis by inhibiting autophagy-dependent protein degradation

    Cell Death and Differentiation, Vol. 26, Núm. 9, pp. 1545-1565

  2. Mitochondrial m.13513G > A Point Mutation in ND5 in a 16-Year-Old Man with Leber Hereditary Optic Neuropathy Detected by Next-Generation Sequencing

    JOURNAL OF PEDIATRIC GENETICS, Vol. 8, Núm. 4, pp. 231-234

2018

  1. Aberrant regulation of the GSK-3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy

    EMBO Molecular Medicine, Vol. 10, Núm. 8

  2. Epidemiology of NMOSD in Catalonia: Influence of the new 2015 criteria in incidence and prevalence estimates

    Multiple Sclerosis Journal, Vol. 24, Núm. 14, pp. 1843-1851

  3. Impact of TSH during the first trimester of pregnancy on obstetric and foetal complications: Usefulness of 2.5 mIU/L cut-off value

    Clinical Endocrinology, Vol. 88, Núm. 5, pp. 728-734

2017

  1. Loss of SIRT2 leads to axonal degeneration and locomotor disability associated with redox and energy imbalance

    Aging Cell, Vol. 16, Núm. 6, pp. 1404-1413

  2. Multilayer OMIC Data in medullary thyroid carcinoma identifies the STAT3 pathway as a potential therapeutic target in RETM918T Tumors

    Clinical Cancer Research, Vol. 23, Núm. 5, pp. 1334-1345