Publicaciones en colaboración con investigadores/as de Hospital Universitario Virgen del Rocío (5)

2023

  1. Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy

    Brain : a journal of neurology, Vol. 146, Núm. 12, pp. 5235-5248

2021

  1. Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families

    Neuropathology and Applied Neurobiology, Vol. 47, Núm. 2, pp. 283-296

2020

  1. Phase II Trial of Palbociclib in Recurrent Retinoblastoma-Positive Anaplastic Oligodendroglioma: A Study from the Spanish Group for Research in Neuro-Oncology (GEINO)

    Targeted Oncology, Vol. 15, Núm. 5, pp. 613-622

2019

  1. Late-onset thymidine kinase 2 deficiency: A review of 18 cases

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

2012

  1. Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

    Orphanet Journal of Rare Diseases, Vol. 7, Núm. 1