Marianna Bugiani

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 · 259 citations

Down Syndrome, Primary Immunodeficiency, Developmental Anomaly +10

Clinical spectrum of 4H leukodystrophy caused by <i>POLR3A</i> and <i>POLR3B</i> mutations

Nicole I. Wolf, Adeline Vanderver, Rosalina M.L. van Spaendonk et al. · Neurology · 2014 · 203 citations · Full text

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy

Erika Fernández‐Vizarra, Marianna Bugiani, P Goffrini et al. · Human Molecular Genetics · 2007 · 180 citations · Full text

Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy

E. Malfatti, Marianna Bugiani, Federica Invernizzi et al. · Brain · 2007 · 145 citations · Full text

Genetics, Molecular Biology, Pathology +18

X‐linked creatine deficiency syndrome: A novel mutation in creatine transporter gene <i>SLC6A8</i>

Alberto Bizzi, Marianna Bugiani, Gajja S. Salomons et al. · Annals of Neurology · 2002 · 90 citations