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 · 486 citations

Sma Type, Clinical Epidemiology, Genetic Epidemiology +5

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 · 163 citations

Somatic Variant, Mendelian Disorder, Genetic Disorder +9

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 · 100 citations

Muscle Function, Genetics, Developmental Pattern +18

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

Genetics, Muscular Atrophy Patients, Muscular Atrophy +20

NHEJ-Mediated Repair of CRISPR-Cas9-Induced DNA Breaks Efficiently Corrects Mutations in HSPCs from Patients with Fanconi Anemia

Francisco J Roman‐Rodriguez, Laura Ugalde, Lara Álvarez et al. · Cell stem cell · 2019 · 85 citations · Full text

Fanconi Anemia, Genome Instability, Genetics +8