Publicacións en colaboración con investigadores/as de Hospital Universitario 12 de Octubre (17)

2016

  1. Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene

    Brain and Development, Vol. 38, Núm. 1, pp. 167-172

  2. Erratum: Corrigendum to “Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene” (Brain and Development (2016) 38(1) (167–172) (S0387760415001023) (10.1016/j.braindev.2015.05.008))

    Brain and Development

2014

  1. Exome sequencing identifies a CHKB mutation in Spanish patient with Megaconial Congenital Muscular Dystrophy and mtDNA depletion

    European Journal of Paediatric Neurology, Vol. 18, Núm. 6, pp. 796-800

2009

  1. Respiratory chain complex I deficiency in an infant with Ohtahara syndrome

    Brain and Development, Vol. 31, Núm. 4, pp. 322-325

2008

  1. Association between autistic spectrum and mitochondrial pathology

    Revista de Neurologia

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

    Revista Espanola de Pediatria

2007

  1. Hepatomioneuropatía secundaria a depleción del ADN mitocondrial

    Neurologia, Vol. 22, Núm. 3, pp. 191-195

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. 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. Mitochondrial encephalomyopathies

    Revista de Neurologia

1999

  1. Congenital hydranencephalic-hydrocephalic syndrome associated with mitochondrial dysfunction

    Journal of Child Neurology, Vol. 14, Núm. 2, pp. 131-135

  2. Earlymitochondrial encephalomyopathydue to complexiv deficiency consistent with alpers-huttenlocher syndrome: report of two cases

    Revista de Neurologia, Vol. 29, Núm. 10, pp. 912-917

1998

  1. Clinical heterogeneity associated with mitochondrial DNA depletion in muscle

    Neuromuscular Disorders, Vol. 8, Núm. 8, pp. 568-573

  2. Congenital ocular motor apraxia associated with myopathy, external hydrocephalus and NADH dehydrogenase deficiency

    Brain and Development, Vol. 20, Núm. 3, pp. 175-178

1996

  1. Leber's congenital amaurosis associated with mitochondrial dysfunction

    Journal of Child Neurology, Vol. 11, Núm. 2, pp. 108-111