IGNACIO
MALAGA DIEGUEZ
Investigador/a
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (3)
2023
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Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study
Neurology and Therapy, Vol. 12, Núm. 1, pp. 89-105
2021
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Paradigmatic de novo grin1 variants recapitulate pathophysiological mechanisms underlying grin1‐related disorder clinical spectrum
International Journal of Molecular Sciences, Vol. 22, Núm. 23
2016
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Targeted next generation sequencing in patients with inborn errors of metabolism
PLoS ONE, Vol. 11, Núm. 5