Edgard Verdura

Heterozygous<i>HTRA1</i>mutations are associated with autosomal dominant cerebral small vessel disease

Edgard Verdura, Dominique Hervé, Eva Scharrer et al. · Brain · 2015 · 186 citations · Full text

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

Disruption of a mi<scp>R</scp>‐29 binding site leading to <scp><i>COL4A1</i></scp> upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy

Edgard Verdura, Dominique Hervé, Françoise Bergametti et al. · Annals of Neurology · 2016 · 95 citations

Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

Jonàs Juan‐Mateu, Lidia González‐Quereda, Maria José Rodríguez et al. · PLoS ONE · 2013 · 55 citations · Full text

Genetics, Molecular Biology, Pathology +17

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

Irit Hochberg, Leigh Demain, Julie Richer et al. · The American Journal of Human Genetics · 2021 · 54 citations · Full text

Genetics, Molecular Biology, Pathology +18