Ana Ferreiro

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

K. Claeys, A. Laquérriere, N. Romero, 2011, Neuropathology and applied neurobiology.

Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene

N. Romero, J. Chiras, L. Viollet, 2006, Neurology.

Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy.

S. Quijano-roy, R. Villar-Quiles, Marta Gómez-García de la Banda, 2019, Journal of neuromuscular diseases.