Publicaciones en las que colabora con Juan Jesús Vílchez Padilla (3)

2020

  1. Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia

    Journal of Medical Genetics, Vol. 57, Núm. 9, pp. 643-646

  2. Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum

    Journal of Neurology, Vol. 267, Núm. 9, pp. 2546-2555

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