S. Kapetanovic García

FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum

G. Ravenscroft, C. Bönnemann, Z. Valivullah, 2022, Journal of Medical Genetics.

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.

M. Gómez Gallego, I. Jericó, J. Díaz-Manera, 2020, Neurologia.

Nusinersen in adult patients with 5q spinal muscular atrophy: A multicenter observational cohorts' study

D. Hervás, J. Vázquez-Costa, M. Povedano, 2021, medRxiv.

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease

M. Gómez Gallego, I. Jericó, J. Díaz-Manera, 2019, Neurología (English Edition).

FSHD type 2 and Bosma arhinia microphthalmia syndrome

S. Tapscott, J. Graham, H. Brand, 2018, Neurology.

Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus).

D. Gómez-Andrés, F. Munell, J. Vázquez-Costa, 2022, Neurologia.

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.

Rafael A. Peinado, M. Gómez Gallego, J. Urtizberea, 2019, Medicina clinica.