- Facultat de Medicina
Center
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Raras (35)
2024
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Variations in the treatment of acute peripheral facial paralysis. A nationwide survey
Acta Otorrinolaringologica Espanola, Vol. 75, Núm. 1, pp. 31-39
2023
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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
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Antibodies against the flotillin-1/2 complex in patients with multiple sclerosis
Brain Communications, Vol. 5, Núm. 2
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Live Cell Adhesion, Migration, and Invasion Assays
Methods in Molecular Biology (Humana Press Inc.), pp. 313-329
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Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity
The Journal of clinical investigation, Vol. 133, Núm. 10
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The reuse of genetic information in research and informed consent
European Journal of Human Genetics, Vol. 31, Núm. 12, pp. 1393-1397
2022
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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
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Ethics and Genomic Editing Using the Crispr-Cas9 Technique: Challenges and Conflicts
NanoEthics, Vol. 16, Núm. 3, pp. 313-321
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M-CSF as a therapeutic target in BRAFV600E melanoma resistant to BRAF inhibitors
British Journal of Cancer
2021
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Clinical consequences of BRCA2 hypomorphism
npj Breast Cancer, Vol. 7, Núm. 1
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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
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PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia
Neurobiology of Disease, Vol. 148
2020
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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
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Loss of glutathione redox homeostasis impairs proteostasis by inhibiting autophagy-dependent protein degradation
Cell Death and Differentiation, Vol. 26, Núm. 9, pp. 1545-1565
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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
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Aberrant regulation of the GSK-3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy
EMBO Molecular Medicine, Vol. 10, Núm. 8
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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
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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
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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
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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