Federica Ricci

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 613 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy

Michela Guglieri, Kate Bushby, Michael McDermott et al. · JAMA · 2022 · 123 citations · Full text

Pharmacy, Pharmacotherapy, Pediatric Clinical Pharmacology +16

Psychological Impact of the COVID-19 Pandemic on Adults and Their Children in Italy

Chiara Davico, Ada Ghiggia, Daniele Marcotulli et al. · Frontiers in Psychiatry · 2021 · 111 citations · Full text

Health Professions, Child Health, Health Sciences +14

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Stéphanie Bauché, S O’Regan, Yoshiteru Azuma et al. · The American Journal of Human Genetics · 2016 · 91 citations · Full text

Life Sciences, Neuroscience, Physiology +15

Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data

Marika Pane, Giorgia Coratti, Claudia Brogna et al. · PLoS ONE · 2018 · 90 citations · Full text

Medicine, Rehabilitation Medicine, Functional Movement Assessment +16