- Facultat de Medicina
Centre
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Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublikationen in Zusammenarbeit mit Forschern von 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