Publicacións nas que colabora con Ángel Carracedo Álvarez (4)
2020
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Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36)
Cerebellum, Vol. 19, Núm. 4, pp. 501-509
2015
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Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11
Applied and Translational Genomics, Vol. 5, pp. 33-36
2012
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'Costa da Morte' ataxia is spinocerebellar ataxia 36: Clinical and genetic characterization
Brain, Vol. 135, Núm. 5, pp. 1423-1435
2006
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Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation
Neuromuscular Disorders, Vol. 16, Núm. 8, pp. 498-503