Unidade de investigación
Servicio
Centro de Investigación Príncipe Felipe
Valencia, EspañaPublicacións en colaboración con investigadores/as de Centro de Investigación Príncipe Felipe (4)
2021
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
Autophagy, Vol. 17, Núm. 1, pp. 1-382
2020
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Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect
Annals of Clinical and Translational Neurology, Vol. 7, Núm. 8, pp. 1436-1442
2018
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Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations
Journal of Medical Genetics, Vol. 55, Núm. 12, pp. 814-823
2017
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Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease
Neuromuscular Disorders, Vol. 27, Núm. 7, pp. 667-672