Publications by the researcher in collaboration with María del Carmen Gómez Lado (13)

2020

  1. Clinical and neurophysiological response to ephedrine in a patient affected with slow-channel congenital myasthenic syndrome

    Revista de Neurologia, Vol. 71, Núm. 6, pp. 221-224

2017

  1. Copy number variation analysis of patients with intellectual disability from North-West Spain

    Gene, Vol. 626, pp. 189-199

2013

  1. A Xq21.31 duplication without features of Prader-Willi syndrome

    Endocrine

  2. Enfermedad de alpers juvenil

    Revista de Neurologia

  3. Intrathecal baclofen for progressive neurological disease in children

    European Journal of Paediatric Neurology

  4. Microdeleción 16p11.2 asociada a convulsiones benignas de la primera infancia

    Revista de Neurologia

  5. Microdeleción 2q23.1 y hallazgos sindrómicos

    Revista de Neurologia

2012

  1. Methylenetetrahydrofolate Reductase (MTHFR) gene polymorphism and migraine

    Journal of Child Neurology

2011

  1. Growth in children and adolescents with mitochondrial diseases

    Journal of Pediatric Neurology, Vol. 9, Núm. 4, pp. 435-439

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

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

  3. The influence of valproic acid and carbamazepine treatment on serum biotin and zinc levels and on biotinidase activity

    Journal of Child Neurology

2010

  1. Abnormal growth in mitochondrial disease

    Acta Paediatrica, International Journal of Paediatrics

  2. Mutismo electivo y enfermedad mitocondrial: Descripción de una nueva asociación

    Revista de Neurologia