Publicaciones en colaboración con investigadores/as de Universitat Autònoma de Barcelona (8)

2023

  1. 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

  2. Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: New splicing events

    Journal of Medical Genetics, Vol. 60, Núm. 6, pp. 615-619

2022

  1. BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients

    American Journal of Pathology, Vol. 192, Núm. 8, pp. 1151-1166

  2. Safety and Efficacy of Crizotinib in Combination with Temozolomide and Radiotherapy in Patients with Newly Diagnosed Glioblastoma: Phase Ib GEINO 1402 Trial

    Cancers, Vol. 14, Núm. 10

2019

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

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

2018

  1. Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis

    Journal of the Neurological Sciences, Vol. 394, pp. 63-67

2017

  1. Phase II trial of dacomitinib, a pan-human EGFR tyrosine kinase inhibitor, in recurrent glioblastoma patients with EGFR amplification

    Neuro-Oncology, Vol. 19, Núm. 11, pp. 1522-1531

2015

  1. Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy

    Neurology