Publicaciones en las que colabora con ANA CAMACHO SALAS (7)

2023

  1. Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973

  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

2020

  1. Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis

    Journal of Neuromuscular Diseases, Vol. 7, Núm. 3, pp. 309-313

2019

  1. Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1

    Neuromuscular Disorders, Vol. 29, Núm. 3, pp. 247-250

2015

  1. LAMA2-related congenital muscular dystrophy complicated by West syndrome

    European Journal of Paediatric Neurology, Vol. 19, Núm. 2, pp. 243-247

2014

  1. Clinical features and molecular characterization of a patient with muscle-eye-brain disease: A novel mutation in the POMGNT1 gene

    Journal of Child Neurology, Vol. 29, Núm. 2, pp. 289-294

  2. Trastornos del neurodesarrollo como forma de presentación de la distrofia muscular de Duchenne

    Revista de Neurologia