Enfermidades Raras e Medicina Pediátrica
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (7)
2020
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Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36
Neuron, Vol. 107, Núm. 2, pp. 292-305.e6
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Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo
Cell Reports, Vol. 31, Núm. 5
2018
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Care of the newborn with perinatal asphyxia candidate for therapeutic hypothermia during the first six hours of life in Spain
Anales de Pediatria, Vol. 89, Núm. 4, pp. 211-221
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
2012
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Erratum to: Knecht E, Criado-García O, Aguado C, Gayarre J, Duran-Trio L, Garcia-Cabrero AM, et al. Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease (Autophagy (2012) 8, (701-703))
Autophagy
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Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy
Human Molecular Genetics, Vol. 21, Núm. 7, pp. 1521-1533
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Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease
Autophagy