Publicaciones en colaboración con investigadores/as de Hospital Clinic Barcelona (4)

2024

  1. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

2023

  1. Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain

    Amyloid, Vol. 30, Núm. 2, pp. 199-207

2018

  1. Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 89, Núm. 2, pp. 162-168

2011

  1. Analysis of relapses in anti-NMDAR encephalitis

    Neurology, Vol. 77, Núm. 10, pp. 996-999