Publicaciones en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (9)

2016

  1. A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation

    Muscle and Nerve, Vol. 54, Núm. 4, pp. 806-808

2008

  1. Características clínicas y epidemiológicas de las encefalomiopatías mitocondriales durante la infancia y adolescencia en Galicia (noroeste de España)

    Revista Espanola de Pediatria

2006

  1. Epidemiology of pediatric mitochondrial respiratory chain disorders in northwest Spain

    Pediatric Neurology, Vol. 34, Núm. 3, pp. 204-211

2004

  1. Mitochondrial encephalomyopathies and West's syndrome: A frequently underdiagnosed association

    Revista de Neurologia, Vol. 39, Núm. 7, pp. 618-623

2003

  1. Lipomatosis simétrica múltiple asociada a polineuropatía, atrofia de cerebelo y citopatía mitocondrial

    Revista de Neurologia, Vol. 36, Núm. 11, pp. 1026-1029

2001

  1. Congenital hydranencephalic-hydrocephalic syndrome with proliferative vasculopathy: A possible relation with mitochondrial dysfunction

    Journal of Child Neurology, Vol. 16, Núm. 11, pp. 858-862

  2. Mitochondrial myopathy, cardiomyopathy and psychiatric illness in a Spanish family harbouring the mtDNA 3303C>T mutation

    Journal of Inherited Metabolic Disease, Vol. 24, Núm. 6, pp. 685-687

2000

  1. Benign congenital myopathy associated with a partial deficiency of complexes I and III of the mitochondrial respiratory chain

    Revista de neurologia, Vol. 31, Núm. 9, pp. 838-841

  2. Mitochondrial encephalomyopathies

    Revista de Neurologia