Publicaciones en las que colabora con Fabiola Mavillard Saborido (3)

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

2018

  1. A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

    Neurology, Vol. 91, Núm. 4, pp. e339-e348