Publications in collaboration with researchers from Universitat de Barcelona (7)

2022

  1. Genetic diagnosis of basal ganglia disease in childhood

    Developmental Medicine and Child Neurology, Vol. 64, Núm. 6, pp. 743-752

2019

  1. Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology

    Human Mutation, Vol. 40, Núm. 10, pp. 1700-1712

  2. X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

    Scientific Reports, Vol. 9, Núm. 1

2017

  1. The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

    Scientific Reports, Vol. 7, Núm. 1

2011

  1. Acute striatal necrosis in hemiplegic migraine with de novo CACNA1A mutation

    Headache, Vol. 51, Núm. 10, pp. 1542-1546

2008

  1. Mitochondrial diseases associated with cerebral folate deficiency

    Neurology, Vol. 70, Núm. 16, pp. 1360-1362

2006

  1. Utilidad del análisis del líquido cefalorraquídeo para el estudio de las deficiencias del metabolismo de neurotransmisores y pterinas y del transporte de glucosa y folato a través de la barrera hematoencefálica

    Medicina Clinica, Vol. 127, Núm. 3, pp. 81-85