Enzo Ricci

MELAS: Clinical features, biochemistry, and molecular genetics

Emma Ciafaloni, Enzo Ricci, Sara Shanske et al. · Annals of Neurology · 1992 · 506 citations

Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

Marina Raffaele di Barletta, Enzo Ricci, Giuliana Galluzzi et al. · The American Journal of Human Genetics · 2000 · 411 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +7

Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number ofKpnI repeats at the 4q35 locus and clinical phenotype

Enzo Ricci, Giuliana Galluzzi, Giancarlo Deidda et al. · Annals of Neurology · 1999 · 296 citations

Ecori Fragment Size, Rare Diseases, Facioscapulohumeral Muscular Dystrophy +15

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

J. Sarparanta, Per Harald Jonson, Christelle Golzio et al. · Nature Genetics · 2012 · 272 citations

Genome Instability, Skeletal Muscle, Genetics +7

The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.

Carlos T. Moraes, Enzo Ricci, E. Bonilla et al. · PubMed · 1992 · 245 citations