Lucía Morandi

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

Johannes N. Spelbrink, Fang-Yuan Li, Valeria Tiranti et al. · Nature Genetics · 2001 · 882 citations

Life Sciences, Genetics, Molecular Genetics +12

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

Life Sciences, Genetics, Molecular Genetics +11

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

Massimo Zeviani, Cinzia Gellera, Carlo Antozzi et al. · The Lancet · 1991 · 383 citations

Medicine, Genetics, Molecular Genetics +12

Expression of transforming growth factor-beta 1 in dystrophic patient muscles correlates with fibrosis. Pathogenetic role of a fibrogenic cytokine.

Pia Bernasconi, E Torchiana, Paolo Confalonieri et al. · Journal of Clinical Investigation · 1995 · 298 citations · Full text

Medicine, Neurology, Pathobiology +12

Reliability of the North Star Ambulatory Assessment in a multicentric setting

Elena Mazzone, Sonia Messina, Gessica Vasco et al. · Neuromuscular Disorders · 2009 · 229 citations

Social Sciences, Physical Medicine, Functional Assessment +7