Fabiola Mavillard

Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

Cristina Domínguez‐González, Marcos Madruga‐Garrido, Fabiola Mavillard et al. · Annals of Neurology · 2019 · 113 citations · Full text

A <i> <scp>POGLUT</scp> 1 </i> mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss

Emilia Servián‐Morilla, Hideyuki Takeuchi, Tom V. Lee et al. · EMBO Molecular Medicine · 2016 · 102 citations · Full text

PKA‐Mediated Golgi Remodeling During cAMP Signal Transmission

Fabiola Mavillard, Josefina Hidalgo, Diego Megı́as et al. · Traffic · 2009 · 40 citations · Full text

Heterozygous <i>CAPN3</i> missense variants causing autosomal‐dominant calpainopathy in seven unrelated families

Laura González, Gianina Ravenscroft, Macarena Cabrera‐Serrano et al. · Neuropathology and Applied Neurobiology · 2020 · 35 citations

Loss of postnatal quiescence of neural stem cells through mTOR activation upon genetic removal of cysteine string protein-α

José Luis Nieto-González, Leonardo Gómez‐Sánchez, Fabiola Mavillard et al. · Proceedings of the National Academy of Sciences · 2019 · 34 citations · Full text