Martino Ruggieri

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Eric Legius, Ludwine Messiaen, P. Wolkenstein et al. · Genetics in Medicine · 2021 · 771 citations · Full text

Medicine, Dermatology, Ophthalmology +14

Clinical features and viral serologies in children with multiple sclerosis: a multinational observational study

Brenda Banwell, Lauren Krupp, Julia Kennedy et al. · The Lancet Neurology · 2007 · 346 citations

Medicine, Neurology, Pediatrics +15

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

Scott R. Plotkin, Ludwine Messiaen, Eric Legius et al. · Genetics in Medicine · 2022 · 276 citations · Full text

Medicine, Genetics, Neurology +16

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 249 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay

Meena Upadhyaya, Martino Ruggieri, Julie Maynard et al. · Human Genetics · 1998 · 179 citations

Life Sciences, Genetics, Molecular Genetics +17