Maria José Rodríguez

A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement

I. Illa, E. Gallardo, V. Straub, 2018, Neuromuscular Disorders.

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

C. Horlings, R. Carlier, E. Ricci, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

M. Baiget, E. Rivas, C. Paradas, 2012, Orphanet Journal of Rare Diseases.

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

C. Ortez, M. Madruga-Garrido, I. Jericó, 2020, Genes.