Publicacións nas que colabora con Joaquín Arenas Barbero (18)

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

2010

  1. Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency

    Human Mutation, Vol. 31, Núm. 8, pp. 930-941

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. 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

1999

  1. Congenital hydranencephalic-hydrocephalic syndrome associated with mitochondrial dysfunction

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

1998

  1. Clinical heterogeneity associated with mitochondrial DNA depletion in muscle

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

1996

  1. Leber's congenital amaurosis associated with mitochondrial dysfunction

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

  2. Mioglobinuria recurrente en una niña, por déficit de carnitín palmitil transferasa

    Anales Espanoles de Pediatria, Vol. 44, Núm. 1, pp. 67-69

1993

  1. FORMA INFANTIL PRECOZ DE CITOPATIA MITOCONDRIAL POR DEFICIT DE LOS COMPLEJOS I Y IV DE LA CADENA RESPIRATORIA

    Revista Espanola de Pediatria, Vol. 49, Núm. 290, pp. 163-167