Lidia González‐Quereda

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations

Jonàs Juan‐Mateu, Lidia González‐Quereda, Maria José Rodríguez et al. · PLoS ONE · 2015 · 143 citations · Full text

Dmd Mutations, Engineering, Genetics +18

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Ana Töpf, Katherine Johnson, Adam Bates et al. · Genetics in Medicine · 2020 · 105 citations · Full text

Dysferlin expression in monocytes: A source of mRNA for mutation analysis

Noemí de Luna, Alba Freixas, P. Gallano et al. · Neuromuscular Disorders · 2006 · 80 citations

Autoimmune Disease, Disease Mechanism, Dysferlin Expression +9

A new phenotype of dysferlinopathy with congenital onset

Carmen Paradas, Lidia González‐Quereda, Noemí de Luna et al. · Neuromuscular Disorders · 2008 · 77 citations

Developmental Anomaly, New Phenotype, Pediatrics +2

Molecular characterization of congenital myasthenic syndromes in Spain

Daniel Natera‐de Benito, Ana Töpf, Juan J. Vílchez et al. · Neuromuscular Disorders · 2017 · 77 citations

Developmental Anomaly, Mendelian Disorder, Congenital Myasthenic Syndromes +6