Publications by the researcher in collaboration with Elena Pintos Martínez (8)

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

2000

  1. 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

  2. Distribución celular e intracelular del receptor de la hormona liberadora de la hormona del crecimiento

    Distribución celular e intracelular del receptor de la hormona liberadora de la hormona del crecimiento

1996

  1. Congenital myopathy with type II muscle fiber hypoplasia

    Child's Nervous System, Vol. 12, Núm. 5, pp. 262-265

  2. Leber's congenital amaurosis associated with mitochondrial dysfunction

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