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 · 974 citations

Transcriptional Regulation, Developmental Biology, Genetic Disorder +7

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 · 815 citations

Wolcott-rallison Syndrome, Transcriptional Regulation, Signal Transduction +7

Recombinant human acid α-glucosidase

Priya S. Kishnani, Deya Corzo, Marc Nicolino et al. · Neurology · 2006 · 759 citations · Full text

Pompe disease diagnosis and management guideline

Priya S. Kishnani, Robert D. Steiner, Deeksha Bali et al. · Genetics in Medicine · 2006 · 612 citations · Full text

Clinical Finding, Medicine, Veterinary Science +4

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 · 578 citations

Pathogenesis, Natural History, Pediatrics +3