Beatriz
San Millan Tejado
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Raras (6)
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
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