Sara Bernal

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

Maite Calucho, Sara Bernal, Laura Alías et al. · Neuromuscular Disorders · 2018 · 506 citations

Life Sciences, Genetics, Human Genetics +13

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

Laura Alías, Sara Bernal, Pablo Fuentes‐Prior et al. · Human Genetics · 2008 · 169 citations

Life Sciences, Genetics, Molecular Genetics +13

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Irene Perea‐Romero, Gema Gordo, Ionut-Florin Iancu et al. · Scientific Reports · 2021 · 160 citations · Full text

Life Sciences, Genetics, Ophthalmology +16

The Developmental Pattern of Myotubes in Spinal Muscular Atrophy Indicates Prenatal Delay of Muscle Maturation

Rebeca Martínez‐Hernández, Carolina Soler‐Botija, E. Also et al. · Journal of Neuropathology & Experimental Neurology · 2009 · 102 citations

Medicine, Neurobiology, Neuroscience +17

Synaptic defects in type I spinal muscular atrophy in human development

Rebeca Martínez‐Hernández, Sara Bernal, Eva Also‐Rallo et al. · The Journal of Pathology · 2012 · 89 citations

Medicine, Neurology, Neuroscience +17