Maria Alice Donati

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

Carlo Minetti, Federica Sotgia, Claudio Bruno et al. · Nature Genetics · 1998 · 586 citations

Life Sciences, Genetics, Molecular Genetics +7

MELAS: Clinical features, biochemistry, and molecular genetics

Emma Ciafaloni, Enzo Ricci, Sara Shanske et al. · Annals of Neurology · 1992 · 509 citations

Life Sciences, Genetics, Molecular Genetics +17

Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations

Ichizo Nishino, Antonella Spinazzola, Alexandros Papadimitriou et al. · Annals of Neurology · 2000 · 343 citations

Life Sciences, Genetics, Neurology +17

Clinical and molecular findings in children with complex I deficiency

Marianna Bugiani, Federica Invernizzi, Simona Alberio et al. · Biochimica et Biophysica Acta (BBA) - Bioenergetics · 2004 · 263 citations

Life Sciences, Genetics, Pediatrics +10

Altered Thymidine Metabolism Due to Defects of Thymidine Phosphorylase

Antonella Spinazzola, Ramón Martí, Ichizo Nishino et al. · Journal of Biological Chemistry · 2002 · 236 citations · Full text

Life Sciences, Biochemistry, Genetics +16