Marc Nicolino

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Laura Crisponi, Manila Deiana, Angela Loi et al. · Nature Genetics · 2001 · 977 citations

Life Sciences, Genetics, Molecular Genetics +5

EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome

Marc Délepine, Marc Nicolino, Timothy Barrett et al. · Nature Genetics · 2000 · 820 citations

Life Sciences, Genetics, Molecular Biology +4

Recombinant human acid α-glucosidase

Priya S. Kishnani, Deya Corzo, Marc Nicolino et al. · Neurology · 2006 · 772 citations · Full text

Life Sciences, Pharmacology, Pharmacotherapy +10

Pompe disease diagnosis and management guideline

Priya S. Kishnani, Robert D. Steiner, Deeksha Bali et al. · Genetics in Medicine · 2006 · 628 citations · Full text

Veterinary Medicine, Pathobiology, Postharvest Disease Management +2

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

Priya S. Kishnani, Wuh‐Liang Hwu, Hanna Mandel et al. · The Journal of Pediatrics · 2006 · 585 citations

Medicine, Neurology, Pediatrics +3