Publicacións nas que colabora con Miguel Angel Martín Casanueva (6)

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

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

1998

  1. Clinical heterogeneity associated with mitochondrial DNA depletion in muscle

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