Publicaciones en colaboración con investigadoras/es de Medical Research Council (2)

2020

  1. Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

    American Journal of Human Genetics, Vol. 106, Núm. 2, pp. 272-279

2019

  1. Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

    Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561