Publications by the researcher in collaboration with Manuel Castro Gago (24)

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

2011

  1. Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant

    Journal of Child Neurology, Vol. 26, Núm. 6, pp. 734-737

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. Pontocerebellar hypoplasia type 1: A case report

    Revista de Neurologia, Vol. 44, Núm. 5, pp. 281-284

2006

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

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

2005

  1. Aspectos actuales de las miopatías congénitas estructurales

    Revista española de pediatría: clínica e investigación, Vol. 61, Núm. 2, pp. 114-125

  2. Aspectos actuales de las miopatías congénitas estructurales

    Revista Espanola de Pediatria, Vol. 61, Núm. 2, pp. 114-125

2004

  1. Aspectos actuales de las distrofias musculares congénitas

    Revista Espanola de Pediatria, Vol. 60, Núm. 6, pp. 451-467

  2. 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

  2. Mixed hypotonia, neurological regression and atrophy of the cerebellum: Manifestations that suggest infantile neuroaxonal dystrophy

    Revista de Neurologia, Vol. 37, Núm. 1, pp. 25-28

2002

  1. A new congenital myopathy [5]

    Acta Paediatrica, International Journal of Paediatrics

  2. Muscular dystrophy due to a deficit of γ-sarcoglycan. A report of three patients with the Δ-521T mutation

    Revista de Neurologia

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

2000

  1. Mitochondrial encephalomyopathies

    Revista de Neurologia

  2. Neuropatia hereditaria con paralisis sensible a la presion (neuropatia tomacular). Estudio clinico, electrofisiologico y molecular de dos familias afectadas

    Revista de Neurologia, Vol. 31, Núm. 6, pp. 506-510

1999

  1. Congenital hydranencephalic-hydrocephalic syndrome associated with mitochondrial dysfunction

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