Serena Pagliarani

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

Michela Guglieri, Francesca Magri, Maria Grazia D’Angelo et al. · Human Mutation · 2007 · 208 citations

Genetics, Genetic Epidemiology, Pathology +18

Mutations in DNA2 Link Progressive Myopathy to Mitochondrial DNA Instability

Dario Ronchi, Alessio Di Fonzo, Weiqiang Lin et al. · The American Journal of Human Genetics · 2013 · 129 citations · Full text

Mitochondrial Myopathy, Genome Instability, Mendelian Disorder +14

Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency.

Sabrina Lucchiari, Domenico Santoro, Serena Pagliarani et al. · PubMed · 2007 · 54 citations

Genetics, Genetic Epidemiology, Glycobiology +18

Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approaches

Monica Nizzardo, Chiara Simone, Sara Dametti et al. · Scientific Reports · 2015 · 47 citations · Full text

Hepatic and neuromuscular forms of glycogenosis type III: nine mutations inAGL

Sabrina Lucchiari, Serena Pagliarani, Sabrina Salani et al. · Human Mutation · 2006 · 38 citations · Full text