Publikationen, an denen er mitarbeitet Aurora Pujol (4)

2020

  1. A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases

    Annals of Clinical and Translational Neurology, Vol. 7, Núm. 1, pp. 105-111

  2. Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study

    European Journal of Neurology, Vol. 27, Núm. 8, pp. 1364-1373

2019

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

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

  2. Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”

    Movement Disorders