Fabiana Lubieniecki

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

Marc Bitoun, Jorge A. Bevilacqua, Bernard Prudhon et al. · Annals of Neurology · 2007 · 148 citations · Full text

Early onset collagen VI myopathies: Genetic and clinical correlations

Laura Briñas, Pascale Richard, Susana Quijano‐Roy et al. · Annals of Neurology · 2010 · 132 citations · Full text

A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression

Jing Liu, Daniela Ottaviani, Meriem Sefta et al. · Nature Communications · 2021 · 101 citations · Full text

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

Edoardo Malfatti, Vilma‐Lotta Lehtokari, Johann Böhm et al. · Acta Neuropathologica Communications · 2014 · 91 citations · Full text

Multidrug resistance proteins in tuberous sclerosis and refractory epilepsy

Alberto Lazarowski, Fabiana Lubieniecki, Sandra Camarero‐Espinosa et al. · Pediatric Neurology · 2004 · 86 citations

Refractory Epilepsy, Cytoskeleton, Neurology +5