Francesco Papadia

Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

Jeroen Roelfsema, Stefan J. White, Yavuz Ariyürek et al. · The American Journal of Human Genetics · 2005 · 467 citations · Full text

Rubinstein-taybi Syndrome, Mendelian Disorder, Genetic Disorder +10

Living with phenylketonuria in adulthood: The PKU ATTITUDE study

Chiara Cazzorla, Giulia Bensi, Giacomo Biasucci et al. · Molecular Genetics and Metabolism Reports · 2018 · 105 citations · Full text

High Rate of Spontaneous Normalization of Celiac Serology in a Cohort of 446 Children With Type 1 Diabetes: A Prospective Study

Stefania Castellaneta, Elvira Piccinno, Marica Oliva et al. · Diabetes Care · 2015 · 84 citations

Impaired bone remodeling in children with osteogenesis imperfecta treated and untreated with bisphosphonates: the role of DKK1, RANKL, and TNF-α

Giacomina Brunetti, Francesco Papadia, Albina Tummolo et al. · Osteoporosis International · 2016 · 62 citations · Full text

Bone Disease, Orthopaedic Surgery, Impaired Bone +7

Alteration of excitation‐contraction coupling mechanism in extensor digitorum longus muscle fibres of dystrophic mdx mouse and potential efficacy of taurine

Annamaria De Luca, Sabata Pierno, Antonella Liantonio et al. · British Journal of Pharmacology · 2001 · 58 citations · Full text