Publicaciones en colaboración con investigadores/as de Instituto de Investigación Sanitaria Hospital 12 de Octubre (7)

2024

  1. Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3

    Journal of Neurology, Vol. 271, Núm. 2, pp. 986-994

  2. Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals

    Journal of Human Genetics

2023

  1. Cerebral amyloid angiopathy–related inflammation: clinical features and treatment response in a case series

    Neurologia, Vol. 38, Núm. 8, pp. 550-559

  2. Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients

    Neuromuscular Disorders, Vol. 33, Núm. 12, pp. 983-987

  3. Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure

    Acta Neuropathologica, Vol. 145, Núm. 1, pp. 127-143

2022

  1. FXR1 -related congenital myopathy: expansion of the clinical and genetic spectrum

    Journal of Medical Genetics, Vol. 59, Núm. 11, pp. 1069-1074

2021

  1. Preferent diaphragmatic involvement in tk2 deficiency: An autopsy case study

    International Journal of Molecular Sciences, Vol. 22, Núm. 11