Unidade de investigación
Servicio
Instituto de Investigación Sanitaria Gregorio Marañón
Madrid, EspañaPublicacións en colaboración con investigadores/as de Instituto de Investigación Sanitaria Gregorio Marañón (7)
2024
-
p63 controls metabolic activation of hepatic stellate cells and fibrosis via an HER2-ACC1 pathway
Cell Reports Medicine, Vol. 5, Núm. 2
2022
-
Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4)
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 23, Núm. 1-2, pp. 25-34
-
Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study
Journal of Neurology, Vol. 269, Núm. 6, pp. 3189-3203
2021
-
Incidence, diagnosis, and outcome of immune-mediated thrombotic thrombocytopenic purpura: A nationwide survey by the Spanish registry of thrombotic thrombocytopenic purpura
Journal of Clinical Apheresis, Vol. 36, Núm. 4, pp. 563-573
-
Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry
Revista Espanola de Cardiologia, Vol. 74, Núm. 3, pp. 216-224
-
Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4
Journal of Neurology, Vol. 268, Núm. 7, pp. 2429-2440
2017
-
Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants
Molecular Diagnosis and Therapy, Vol. 21, Núm. 3, pp. 303-313